Variant report

Variant	esv3441371
Chromosome Location	chr7:100423841-100426389
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:100425307-100425310	K562	blood:	n/a	n/a
2	ATF2	chr7:100425290-100425740	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr7:100425249-100425737	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr7:100425330-100425881	A549	lung:	n/a	chr7:100425340-100425349
5	BCL3	chr7:100425328-100425866	A549	lung:	n/a	chr7:100425340-100425349
6	BHLHE40	chr7:100424807-100424989	K562	blood:	n/a	n/a
7	BHLHE40	chr7:100425331-100425662	K562	blood:	n/a	n/a
8	BHLHE40	chr7:100424240-100424246	K562	blood:	n/a	n/a
9	BHLHE40	chr7:100423673-100423850	K562	blood:	n/a	n/a
10	BRCA1	chr7:100423794-100423905	Hela-S3	cervix:	n/a	n/a
11	BRCA1	chr7:100423717-100423917	H1-hESC	embryonic stem cell:	n/a	n/a
12	BRCA1	chr7:100425355-100425538	H1-hESC	embryonic stem cell:	n/a	n/a
13	CBX3	chr7:100425354-100426608	K562	blood:	n/a	n/a
14	CBX3	chr7:100425403-100425915	K562	blood:	n/a	n/a
15	CCNT2	chr7:100426247-100426426	K562	blood:	n/a	n/a
16	CCNT2	chr7:100424598-100425656	K562	blood:	n/a	chr7:100425417-100425426 chr7:100425334-100425343
17	CEBPB	chr7:100425465-100425641	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPD	chr7:100424871-100425600	HepG2	liver:	n/a	n/a
19	CEBPD	chr7:100424993-100425265	HepG2	liver:	n/a	n/a
20	CHD1	chr7:100426155-100426302	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD1	chr7:100425615-100425788	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr7:100425088-100425448	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr7:100425223-100425724	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD2	chr7:100425430-100425586	HepG2	liver:	n/a	n/a
25	CHD2	chr7:100424383-100424569	Hela-S3	cervix:	n/a	n/a
26	CHD2	chr7:100425235-100425649	K562	blood:	n/a	n/a
27	CHD2	chr7:100423674-100423875	Hela-S3	cervix:	n/a	n/a
28	CREB1	chr7:100425008-100425839	H1-hESC	embryonic stem cell:	n/a	n/a
29	CREB1	chr7:100425040-100425700	A549	lung:	n/a	n/a
30	CREB1	chr7:100425043-100425723	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTBP2	chr7:100425262-100425739	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr7:100425520-100425670	HCM	heart:	n/a	chr7:100425569-100425590 chr7:100425592-100425613 chr7:100425599-100425612 chr7:100425602-100425610 chr7:100425597-100425615
33	CTCF	chr7:100425469-100425688	A549	lung:	n/a	chr7:100425569-100425590 chr7:100425592-100425613 chr7:100425599-100425612 chr7:100425602-100425610 chr7:100425597-100425615
34	CTCF	chr7:100425540-100425690	AG04450	lung:	n/a	chr7:100425569-100425590 chr7:100425592-100425613 chr7:100425599-100425612 chr7:100425602-100425610 chr7:100425597-100425615
35	CTCF	chr7:100425346-100425842	K562	blood:	n/a	chr7:100425569-100425590 chr7:100425592-100425613 chr7:100425599-100425612 chr7:100425602-100425610 chr7:100425597-100425615
36	CTCF	chr7:100425374-100425732	HepG2	liver:	n/a	chr7:100425569-100425590 chr7:100425592-100425613 chr7:100425599-100425612 chr7:100425602-100425610 chr7:100425597-100425615
37	CTCF	chr7:100423718-100423881	HUVEC	blood vessel:	n/a	n/a
38	CTCF	chr7:100425500-100425650	HepG2	liver:	n/a	chr7:100425569-100425590 chr7:100425592-100425613 chr7:100425599-100425612 chr7:100425602-100425610 chr7:100425597-100425615
39	CTCF	chr7:100425540-100425690	HRE	kidney:	n/a	chr7:100425569-100425590 chr7:100425592-100425613 chr7:100425599-100425612 chr7:100425602-100425610 chr7:100425597-100425615
40	CTCF	chr7:100425448-100425698	SK-N-SH_RA	brain:	n/a	chr7:100425569-100425590 chr7:100425592-100425613 chr7:100425599-100425612 chr7:100425602-100425610 chr7:100425597-100425615
41	CTCF	chr7:100425500-100425650	GM12864	blood:	n/a	chr7:100425569-100425590 chr7:100425592-100425613 chr7:100425599-100425612 chr7:100425602-100425610 chr7:100425597-100425615
42	CTCF	chr7:100423740-100423890	Caco-2	colon:	n/a	n/a
43	CTCF	chr7:100423700-100423850	Caco-2	colon:	n/a	n/a
44	CTCF	chr7:100423740-100423890	NHLF	lung:	n/a	n/a
45	CTCF	chr7:100423686-100423901	MCF-7	breast:	n/a	n/a
46	CTCF	chr7:100425520-100425670	K562	blood:	n/a	chr7:100425569-100425590 chr7:100425592-100425613 chr7:100425599-100425612 chr7:100425602-100425610 chr7:100425597-100425615
47	CTCF	chr7:100425520-100425670	HMF	breast:	n/a	chr7:100425569-100425590 chr7:100425592-100425613 chr7:100425599-100425612 chr7:100425602-100425610 chr7:100425597-100425615
48	CTCF	chr7:100423700-100423850	HA-sp	spinal cord:	n/a	n/a
49	CTCF	chr7:100425540-100425690	HVMF	connective:	n/a	chr7:100425569-100425590 chr7:100425592-100425613 chr7:100425599-100425612 chr7:100425602-100425610 chr7:100425597-100425615
50	CTCF	chr7:100423669-100423899	SK-N-SH_RA	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:100425456-100425506	HCF	heart:	n/a
2	chr7:100424532-100424582	A549	lung:	n/a
3	chr7:100425456-100425506	HCF	heart:	n/a
4	chr7:100424532-100424582	A549	lung:	n/a
5	chr7:100425154-100425204	MCF-7	breast:	n/a
6	chr7:100425517-100425567	AG04450	lung:	fetal
7	chr7:100425236-100425286	NH-A	brain:	n/a
8	chr7:100425456-100425506	NB4	blood:	n/a
9	chr7:100424355-100424405	HCT-116	colon:	n/a
10	chr7:100424532-100424582	BE2_C	brain:	n/a
11	chr7:100425456-100425506	HEK293	kidney:	embryo
12	chr7:100425238-100425288	HCT-116	colon:	n/a
13	chr7:100424945-100424995	SAEC	small airway:	n/a
14	chr7:100424532-100424582	H1-hESC	embryonic stem cell:	embryo
15	chr7:100425236-100425286	ovcar-3	ovarian:	n/a
16	chr7:100425827-100425877	AG04449	skin:	fetal
17	chr7:100423987-100424037	HNPCEpiC	eye:	n/a
18	chr7:100425075-100425125	NT2-D1	testis:	n/a
19	chr7:100425517-100425567	SK-N-SH	brain:	n/a
20	chr7:100424945-100424995	HCF	heart:	n/a
21	chr7:100425827-100425877	HIPEpiC	eye:	n/a
22	chr7:100425827-100425877	CMK	blood:	n/a
23	chr7:100424945-100424995	HCPEpiC	choroid plexus:	n/a
24	chr7:100423987-100424037	K562	blood:	n/a
25	chr7:100423987-100424037	MCF-7	breast:	n/a
26	chr7:100425567-100425617	GM12892	blood:	n/a
27	chr7:100425075-100425125	A549	lung:	n/a
28	chr7:100424355-100424405	HRE	kidney:	n/a
29	chr7:100425236-100425286	HUVEC	blood vessel:	n/a
30	chr7:100425238-100425288	U87	brain:	n/a
31	chr7:100424355-100424405	AG10803	skin:	n/a
32	chr7:100423987-100424037	HEEpiC	esophagus:	n/a
33	chr7:100424355-100424405	T-47D	breast:	n/a
34	chr7:100424355-100424405	AG04449	skin:	fetal
35	chr7:100425075-100425125	HL-60	blood:	n/a
36	chr7:100425236-100425286	AG10803	skin:	n/a
37	chr7:100425075-100425125	HRE	kidney:	n/a
38	chr7:100425456-100425506	CMK	blood:	n/a
39	chr7:100425567-100425617	HRPEpiC	eye:	n/a
40	chr7:100425236-100425286	AG09309	skin:	n/a
41	chr7:100425238-100425288	HRCEpiC	kidney:	n/a
42	chr7:100425236-100425286	AoSMC	blood vessel:	n/a
43	chr7:100425075-100425125	ECC-1	luminal epithelium:	n/a
44	chr7:100425567-100425617	HCF	heart:	n/a
45	chr7:100424945-100424995	HEK293	kidney:	embryo
46	chr7:100424355-100424405	CMK	blood:	n/a
47	chr7:100424532-100424582	Caco-2	colon:	n/a
48	chr7:100425827-100425877	Caco-2	colon:	n/a
49	chr7:100423987-100424037	HCT-116	colon:	n/a
50	chr7:100424355-100424405	MCF10A-Er-Src	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100223251..100225945-chr7:100423491..100425881,2	MCF-7	breast:
2	chr7:100422126..100425537-chr7:100471170..100475559,4	MCF-7	breast:
3	chr7:100421802..100424702-chr7:100482689..100484467,2	MCF-7	breast:
4	chr7:100410343..100413835-chr7:100422249..100426210,7	MCF-7	breast:
5	chr7:100425738..100428117-chr7:100484984..100487781,2	K562	blood:
6	chr7:100422507..100425208-chr7:100700393..100702455,2	MCF-7	breast:
7	chr7:100026028..100027729-chr7:100422435..100425262,2	MCF-7	breast:
8	chr7:100423752..100426266-chr7:100463292..100466439,3	MCF-7	breast:
9	chr7:100425445..100427592-chr7:100461568..100464406,2	MCF-7	breast:
10	chr7:100026299..100028984-chr7:100423719..100425446,2	MCF-7	breast:
11	chr7:100302193..100303928-chr7:100423782..100426431,2	K562	blood:
12	chr7:100425204..100426043-chr7:100449570..100450195,2	MCF-7	breast:
13	chr7:100423550..100425060-chr7:100485976..100488045,2	K562	blood:
14	chr7:100303807..100306073-chr7:100423703..100425515,2	MCF-7	breast:
15	chr7:100423424..100426106-chr7:100484562..100490364,9	MCF-7	breast:
16	chr7:100422507..100426422-chr7:100448675..100454510,8	MCF-7	breast:
17	chr7:100423433..100426983-chr7:100448013..100452140,5	K562	blood:
18	chr7:100425260..100426798-chr7:100493596..100496066,2	K562	blood:
19	chr7:100425740..100428117-chr7:100484984..100487072,2	K562	blood:
20	chr7:100317495..100321039-chr7:100423744..100425687,3	MCF-7	breast:
21	chr7:100208147..100211165-chr7:100422696..100426389,3	MCF-7	breast:
22	chr7:100397045..100397664-chr7:100423201..100424033,3	MCF-7	breast:
23	chr7:100396723..100397558-chr7:100423449..100424411,5	MCF-7	breast:
24	chr20:49345925..49349495-chr7:100424000..100426504,3	MCF-7	breast:
25	chr7:100183417..100185001-chr7:100424655..100427018,2	K562	blood:
26	chr7:100301669..100305063-chr7:100423516..100428632,6	MCF-7	breast:
27	chr6:146056240..146056988-chr7:100424823..100425448,2	HCT-116	colon:
28	chr7:100424369..100426851-chr7:100449777..100451891,3	MCF-7	breast:
29	chr7:100317734..100318502-chr7:100423320..100424248,2	MCF-7	breast:
30	chr7:100422826..100425783-chr7:100447402..100452140,5	K562	blood:
31	chr7:100424338..100424916-chr9:124132047..124132991,2	NB4	blood:
32	chr17:78120400..78121118-chr7:100424949..100425936,2	HCT-116	colon:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC12A9-1	chr7:100424442-100424669	NONHSAT122409

Variant related genes	Relation type
SLC12A9	TF binding region
RN7SL750P	TF binding region
EPHB4	TF binding region
SLC12A9	CpG island
RN7SL750P	CpG island
EPHB4	CpG island
ENSG00000077454	chromatin interactions
ENSG00000106330	chromatin interactions
ENSG00000141543	chromatin interactions
ENSG00000112425	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000087085	chromatin interactions
ENSG00000106336	chromatin interactions
ENSG00000222636	chromatin interactions
ENSG00000087077	chromatin interactions
ENSG00000130427	chromatin interactions
ENSG00000146828	chromatin interactions
ENSG00000196411	chromatin interactions
ENSG00000106327	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000148175	chromatin interactions
ENSG00000172336	chromatin interactions
ENSG00000270638	chromatin interactions
ENSG00000087087	chromatin interactions
ENSG00000236305	chromatin interactions
ENSG00000176125	chromatin interactions
ENSG00000124171	chromatin interactions

Extended variants
information (count: 102 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs314314	chr7:100423841-100423842	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs111959244	chr7:100423845-100423846	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
3	rs561930631	chr7:100423857-100423858	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
4	rs549597125	chr7:100423920-100423921	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
5	rs142075243	chr7:100423921-100423922	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
6	rs377688784	chr7:100423944-100423945	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
7	rs370003555	chr7:100423970-100423971	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
8	rs371563257	chr7:100423987-100423988	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
9	rs538295076	chr7:100424033-100424034	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
10	rs184280919	chr7:100424049-100424050	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
11	rs571277811	chr7:100424068-100424069	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
12	rs563955517	chr7:100424072-100424073	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
13	rs538674357	chr7:100424115-100424116	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
14	rs557614548	chr7:100424132-100424133	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
15	rs189432165	chr7:100424160-100424161	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
16	rs548725064	chr7:100424185-100424186	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
17	rs79654623	chr7:100424231-100424232	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
18	rs192373435	chr7:100424246-100424247	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
19	rs573764728	chr7:100424276-100424277	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
20	rs544261446	chr7:100424331-100424332	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
21	rs572306315	chr7:100424345-100424346	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
22	rs565727504	chr7:100424415-100424416	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
23	rs562596050	chr7:100424446-100424447	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
24	rs76541265	chr7:100424469-100424470	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
25	rs545058163	chr7:100424480-100424481	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
26	rs560760071	chr7:100424492-100424493	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
27	rs527937169	chr7:100424506-100424507	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
28	rs527917744	chr7:100424516-100424517	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
29	rs552830837	chr7:100424571-100424572	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
30	rs141919245	chr7:100424577-100424578	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
31	rs549419150	chr7:100424584-100424585	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
32	rs200488259	chr7:100424586-100424587	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
33	rs35907339	chr7:100424587-100424588	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
34	rs34283258	chr7:100424588-100424589	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
35	rs139513482	chr7:100424613-100424614	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
36	rs373130748	chr7:100424625-100424626	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
37	rs376314076	chr7:100424640-100424641	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
38	rs531830000	chr7:100424642-100424643	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
39	rs370335830	chr7:100424667-100424668	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
40	rs374017664	chr7:100424679-100424680	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
41	rs550225897	chr7:100424691-100424692	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
42	rs116409758	chr7:100424727-100424728	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
43	rs538636108	chr7:100424743-100424744	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
44	rs547432389	chr7:100424748-100424749	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
45	rs2571606	chr7:100424776-100424777	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs534053763	chr7:100424788-100424789	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
47	rs555390427	chr7:100424798-100424799	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
48	rs183661477	chr7:100424915-100424916	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
49	rs189006064	chr7:100424938-100424939	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
50	rs537675285	chr7:100425067-100425068	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	20409316	CNVD
aortic dissecting aneurysms	22263138	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:381 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100421800-100424000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:100421800-100425000	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr7:100422200-100424200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
4	chr7:100422200-100424600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
5	chr7:100422200-100426400	Active TSS	Right Ventricle	heart
6	chr7:100422400-100424000	Flanking Active TSS	Colonic Mucosa	Colon
7	chr7:100422400-100424400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr7:100422400-100424400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr7:100422400-100424400	Flanking Active TSS	Fetal Muscle Leg	muscle
10	chr7:100422400-100425600	Active TSS	Lung	lung
11	chr7:100422400-100425800	Active TSS	Left Ventricle	heart
12	chr7:100422400-100426400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:100422400-100426400	Active TSS	Right Atrium	heart
14	chr7:100422600-100424200	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr7:100422600-100424200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
16	chr7:100422600-100424400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:100422600-100424400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:100422600-100424400	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr7:100422600-100424800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr7:100422600-100426400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:100422800-100424000	Active TSS	Psoas Muscle	Psoas
22	chr7:100422800-100424000	Flanking Active TSS	NH-A	brain
23	chr7:100422800-100424200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:100422800-100424200	Flanking Active TSS	Colon Smooth Muscle	Colon
25	chr7:100422800-100424200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr7:100422800-100424200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr7:100422800-100424200	Transcr. at gene 5' and 3'	K562	blood
28	chr7:100422800-100424400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
29	chr7:100422800-100424400	Flanking Active TSS	Liver	Liver
30	chr7:100422800-100424600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
31	chr7:100422800-100424600	Flanking Active TSS	Fetal Muscle Trunk	muscle
32	chr7:100422800-100426400	Active TSS	Fetal Kidney	kidney
33	chr7:100422800-100427200	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr7:100423000-100424000	Bivalent/Poised TSS	Fetal Brain Male	brain
35	chr7:100423000-100424200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr7:100423000-100424200	Flanking Active TSS	A549	lung
37	chr7:100423000-100424400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:100423000-100424400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:100423000-100424400	Flanking Active TSS	Osteobl	bone
40	chr7:100423000-100424600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr7:100423000-100424600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:100423000-100425400	Active TSS	Small Intestine	intestine
43	chr7:100423000-100425400	Active TSS	HMEC	breast
44	chr7:100423000-100426200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr7:100423000-100426600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr7:100423200-100424000	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr7:100423200-100424000	Flanking Active TSS	Placenta Amnion	Placenta Amnion
48	chr7:100423200-100424200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:100423200-100424200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:100423200-100424200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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