Variant report

Variant	esv3354852
Chromosome Location	chr7:129250541-129253089
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:939)
CpG islands
(count:673)
Chromatin interactive
region (count:19)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:939 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:129252338-129252934	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:129252529-129253200	K562	blood:	n/a	n/a
3	ARID3A	chr7:129251341-129251641	HepG2	liver:	n/a	n/a
4	ARID3A	chr7:129251097-129251448	K562	blood:	n/a	n/a
5	ATF2	chr7:129251283-129251592	GM12878	blood:	n/a	n/a
6	ATF2	chr7:129251064-129251680	GM12878	blood:	n/a	n/a
7	ATF3	chr7:129251214-129251766	A549	lung:	n/a	n/a
8	BACH1	chr7:129250795-129250817	K562	blood:	n/a	n/a
9	BACH1	chr7:129251475-129251774	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr7:129252363-129252467	H1-hESC	embryonic stem cell:	n/a	n/a
11	BCL3	chr7:129250791-129251489	A549	lung:	n/a	chr7:129251385-129251398 chr7:129251440-129251453 chr7:129251447-129251460 chr7:129251390-129251399
12	BCL3	chr7:129251287-129251706	GM12878	blood:	n/a	chr7:129251385-129251398 chr7:129251440-129251453 chr7:129251447-129251460 chr7:129251390-129251399
13	BCLAF1	chr7:129251160-129251734	GM12878	blood:	n/a	chr7:129251385-129251398 chr7:129251440-129251453 chr7:129251447-129251460 chr7:129251390-129251399
14	BCLAF1	chr7:129251142-129251699	GM12878	blood:	n/a	chr7:129251385-129251398 chr7:129251440-129251453 chr7:129251447-129251460 chr7:129251390-129251399
15	BCLAF1	chr7:129251747-129252108	GM12878	blood:	n/a	chr7:129252070-129252083 chr7:129251946-129251955
16	BHLHE40	chr7:129252572-129252972	GM12878	blood:	n/a	n/a
17	BHLHE40	chr7:129250857-129251787	K562	blood:	n/a	n/a
18	BHLHE40	chr7:129250857-129251880	GM12878	blood:	n/a	n/a
19	BHLHE40	chr7:129251328-129251658	A549	lung:	n/a	n/a
20	BHLHE40	chr7:129251017-129251785	HepG2	liver:	n/a	n/a
21	BHLHE40	chr7:129252328-129252800	K562	blood:	n/a	n/a
22	BRCA1	chr7:129250952-129251406	H1-hESC	embryonic stem cell:	n/a	n/a
23	BRCA1	chr7:129252288-129252311	HepG2	liver:	n/a	n/a
24	BRCA1	chr7:129251079-129251547	GM12878	blood:	n/a	n/a
25	BRCA1	chr7:129250972-129251653	Hela-S3	cervix:	n/a	n/a
26	CBX3	chr7:129250405-129251710	K562	blood:	n/a	n/a
27	CBX3	chr7:129252248-129253018	K562	blood:	n/a	n/a
28	CBX3	chr7:129251317-129251732	K562	blood:	n/a	n/a
29	CCNT2	chr7:129251174-129252290	K562	blood:	n/a	chr7:129251528-129251537
30	CEBPB	chr7:129251618-129251720	K562	blood:	n/a	n/a
31	CEBPB	chr7:129251562-129251734	HepG2	liver:	n/a	n/a
32	CEBPB	chr7:129251271-129251790	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr7:129251526-129251679	IMR90	lung:	n/a	n/a
34	CEBPB	chr7:129251322-129251325	K562	blood:	n/a	n/a
35	CEBPB	chr7:129251582-129251644	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPD	chr7:129251152-129251728	HepG2	liver:	n/a	n/a
37	CEBPD	chr7:129251232-129251876	K562	blood:	n/a	n/a
38	CHD1	chr7:129252211-129252345	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD1	chr7:129250910-129252389	GM12878	blood:	n/a	chr7:129252102-129252112
40	CHD1	chr7:129252594-129252835	GM12878	blood:	n/a	n/a
41	CHD1	chr7:129251856-129251996	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD1	chr7:129250526-129251642	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD1	chr7:129250339-129253090	IMR90	lung:	n/a	chr7:129252102-129252112
44	CHD2	chr7:129251067-129251737	GM12878	blood:	n/a	n/a
45	CHD2	chr7:129251078-129251722	K562	blood:	n/a	n/a
46	CHD2	chr7:129251129-129251827	Hela-S3	cervix:	n/a	n/a
47	CHD2	chr7:129251921-129251950	HepG2	liver:	n/a	n/a
48	CHD2	chr7:129250898-129251597	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD2	chr7:129251087-129251678	HepG2	liver:	n/a	n/a
50	CREB1	chr7:129251142-129252150	A549	lung:	n/a	n/a

(count:673 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:129251173-129251223	MCF-7	breast:	n/a
2	chr7:129251350-129251400	PFSK-1	brain:	n/a
3	chr7:129251173-129251223	MCF-7	breast:	n/a
4	chr7:129251350-129251400	PFSK-1	brain:	n/a
5	chr7:129251645-129251695	U87	brain:	n/a
6	chr7:129252859-129252909	HRE	kidney:	n/a
7	chr7:129252859-129252909	GM12892	blood:	n/a
8	chr7:129251834-129251884	SK-N-SH_RA	brain:	n/a
9	chr7:129251651-129251701	GM12892	blood:	n/a
10	chr7:129251173-129251223	ovcar-3	ovarian:	n/a
11	chr7:129251645-129251695	HEEpiC	esophagus:	n/a
12	chr7:129251419-129251469	BJ	skin:	n/a
13	chr7:129251373-129251423	NB4	blood:	n/a
14	chr7:129252427-129252477	HL-60	blood:	n/a
15	chr7:129251834-129251884	HL-60	blood:	n/a
16	chr7:129251645-129251695	NB4	blood:	n/a
17	chr7:129251173-129251223	AG09319	gingival:	n/a
18	chr7:129252427-129252477	HNPCEpiC	eye:	n/a
19	chr7:129251834-129251884	PFSK-1	brain:	n/a
20	chr7:129251645-129251695	ovcar-3	ovarian:	n/a
21	chr7:129252859-129252909	AG09319	gingival:	n/a
22	chr7:129251834-129251884	PrEC	prostate:	n/a
23	chr7:129251419-129251469	HRCEpiC	kidney:	n/a
24	chr7:129251419-129251469	BE2_C	brain:	n/a
25	chr7:129251173-129251223	HAEpiC	amniotic membrane:	n/a
26	chr7:129251350-129251400	Hepatocyte	liver:	n/a
27	chr7:129251350-129251400	HEK293	kidney:	embryo
28	chr7:129251373-129251423	ProgFib	skin:	n/a
29	chr7:129251373-129251423	SKMC	muscle:	n/a
30	chr7:129252427-129252477	HEEpiC	esophagus:	n/a
31	chr7:129251645-129251695	AG04449	skin:	fetal
32	chr7:129251173-129251223	HNPCEpiC	eye:	n/a
33	chr7:129252859-129252909	SAEC	small airway:	n/a
34	chr7:129251834-129251884	SK-N-SH	brain:	n/a
35	chr7:129252427-129252477	ovcar-3	ovarian:	n/a
36	chr7:129251645-129251695	AoSMC	blood vessel:	n/a
37	chr7:129251350-129251400	GM06990	blood:	n/a
38	chr7:129251651-129251701	HRE	kidney:	n/a
39	chr7:129252427-129252477	IMR90	lung:	fetal
40	chr7:129251651-129251701	NHDF-neo	bronchial:	n/a
41	chr7:129251173-129251223	AoSMC	blood vessel:	n/a
42	chr7:129252859-129252909	PrEC	prostate:	n/a
43	chr7:129252859-129252909	U87	brain:	n/a
44	chr7:129250987-129251037	K562	blood:	n/a
45	chr7:129252592-129252642	NHBE	bronchial:	n/a
46	chr7:129251651-129251701	Hepatocyte	liver:	n/a
47	chr7:129251834-129251884	HCM	heart:	n/a
48	chr7:129251645-129251695	BE2_C	brain:	n/a
49	chr7:129251645-129251695	HRE	kidney:	n/a
50	chr7:129251645-129251695	Hepatocyte	liver:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:129249547..129251363-chr7:129284071..129286365,2	K562	blood:
2	chr7:129174530..129176611-chr7:129248438..129250911,2	K562	blood:
3	chr7:129250084..129252552-chr7:129268663..129271453,3	MCF-7	breast:
4	chr17:7387423..7388055-chr7:129251401..129252191,2	NB4	blood:
5	chr7:129131493..129133001-chr7:129248481..129251293,2	K562	blood:
6	chr6:42018214..42019014-chr7:129251273..129252086,2	MCF-7	breast:
7	chr19:46497864..46498825-chr7:129250928..129251445,2	NB4	blood:
8	chr17:46125740..46126287-chr7:129251351..129251902,2	HCT-116	colon:
9	chr7:129247164..129250870-chr7:129275593..129280578,4	K562	blood:
10	chr7:129072757..129075659-chr7:129250844..129252909,2	MCF-7	breast:
11	chr7:128947155..128949553-chr7:129248473..129251078,2	K562	blood:
12	chr7:128861878..128864970-chr7:129248280..129251155,3	K562	blood:
13	chr7:129139279..129144298-chr7:129248057..129253593,12	MCF-7	breast:
14	chr7:129122920..129124600-chr7:129249511..129251392,2	MCF-7	breast:
15	chr7:129252350..129253268-chr7:129275153..129276013,5	MCF-7	breast:
16	chr7:129212889..129217763-chr7:129247804..129250930,5	K562	blood:
17	chr7:129141127..129144491-chr7:129250183..129252967,6	MCF-7	breast:
18	chr17:72744609..72745267-chr7:129251192..129252153,2	HCT-116	colon:
19	chr7:129040519..129043328-chr7:129251804..129254684,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-305M3.3.1-3	chr7:129251580-129251665	NONHSAT123302
2	lnc-NRF1-1	chr7:129250564-129250711	NONHSAT123300
3	lnc-UBE2H-2	chr7:129244389-129251471	ENSG00000273329.1
4	lnc-UBE2H-2	chr7:129242678-129251482	NONHSAT123298
5	lnc-UBE2H-2	chr7:129251159-129251436	XLOC_006604
6	lnc-NRF1-1	chr7:129251049-129251405	NONHSAT123300

No data

Variant related genes	Relation type
ENSG00000273329	TF binding region
NRF1	TF binding region
ENSG00000273329	CpG island
NRF1	CpG island
ENSG00000106459	chromatin interactions
ENSG00000104983	chromatin interactions
ENSG00000174282	chromatin interactions
ENSG00000137413	chromatin interactions
ENSG00000266036	chromatin interactions
ENSG00000264624	chromatin interactions
ENSG00000128578	chromatin interactions
ENSG00000158467	chromatin interactions
ENSG00000240204	chromatin interactions
ENSG00000082641	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000199846	chromatin interactions
ENSG00000109062	chromatin interactions

Extended variants
information (count: 74 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572087254	chr7:129250556-129250557	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
2	rs74990757	chr7:129250624-129250625	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
3	rs551413469	chr7:129250686-129250687	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
4	rs200827284	chr7:129250699-129250700	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
5	rs566550486	chr7:129250714-129250715	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
6	rs574668214	chr7:129250720-129250721	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
7	rs182139249	chr7:129250749-129250750	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
8	rs113174836	chr7:129250767-129250768	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
9	rs540169156	chr7:129250778-129250779	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
10	rs61515411	chr7:129250790-129250791	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
11	rs555714212	chr7:129250808-129250809	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
12	rs55671167	chr7:129250835-129250836	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
13	rs398086163	chr7:129250841-129250842	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
14	rs397716631	chr7:129250842-129250843	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
15	rs567599812	chr7:129250867-129250868	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
16	rs186739129	chr7:129250892-129250893	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
17	rs557438501	chr7:129250995-129250996	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
18	rs575702019	chr7:129251000-129251001	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
19	rs79682225	chr7:129251007-129251008	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
20	rs1668467	chr7:129251021-129251022	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
21	rs573381901	chr7:129251024-129251025	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
22	rs144254997	chr7:129251028-129251029	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
23	rs561922172	chr7:129251035-129251036	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
24	rs11570363	chr7:129251065-129251066	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs192439345	chr7:129251068-129251069	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
26	rs1668468	chr7:129251080-129251081	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
27	rs562152026	chr7:129251096-129251097	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
28	rs532892695	chr7:129251154-129251155	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
29	rs551208481	chr7:129251158-129251159	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
30	rs560157852	chr7:129251194-129251195	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
31	rs115465920	chr7:129251246-129251247	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
32	rs77135380	chr7:129251289-129251290	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
33	rs567466072	chr7:129251310-129251311	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
34	rs144860579	chr7:129251454-129251455	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
35	rs550061168	chr7:129251478-129251479	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
36	rs569163175	chr7:129251480-129251481	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
37	rs6951327	chr7:129251525-129251526	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs557988550	chr7:129251528-129251529	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs573323990	chr7:129251544-129251545	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs534028359	chr7:129251770-129251771	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs111875835	chr7:129251987-129251988	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs555578140	chr7:129252004-129252005	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs550550967	chr7:129252118-129252119	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs140553648	chr7:129252137-129252138	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs573853166	chr7:129252164-129252165	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs188150275	chr7:129252265-129252266	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs562812871	chr7:129252272-129252273	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs577580459	chr7:129252374-129252375	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs193030029	chr7:129252378-129252379	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs145856272	chr7:129252398-129252399	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:417 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129245200-129250600	Weak transcription	Esophagus	oesophagus
2	chr7:129245400-129250600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:129245600-129250600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:129245800-129250800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr7:129246200-129250600	Weak transcription	Aorta	Aorta
6	chr7:129246200-129250600	Weak transcription	Left Ventricle	heart
7	chr7:129247600-129250600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:129249000-129250600	Enhancers	Pancreas	Pancrea
9	chr7:129249200-129250800	Weak transcription	Gastric	stomach
10	chr7:129249400-129250800	Enhancers	Spleen	Spleen
11	chr7:129249600-129250600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:129249600-129250600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr7:129249600-129250600	Enhancers	Lung	lung
14	chr7:129249600-129250600	Enhancers	Psoas Muscle	Psoas
15	chr7:129249800-129250600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:129249800-129250600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:129249800-129250600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:129249800-129250600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr7:129250000-129250600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:129250000-129250600	Enhancers	Primary B cells from cord blood	blood
21	chr7:129250000-129250600	Enhancers	Primary B cells from peripheral blood	blood
22	chr7:129250000-129250600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr7:129250000-129250600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr7:129250000-129250600	Weak transcription	Ovary	ovary
25	chr7:129250000-129250800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:129250000-129250800	Enhancers	Small Intestine	intestine
27	chr7:129250000-129251000	Flanking Active TSS	Dnd41	blood
28	chr7:129250000-129253000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:129250000-129253400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:129250200-129250600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr7:129250200-129250600	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr7:129250200-129250600	Enhancers	Fetal Heart	heart
33	chr7:129250200-129250600	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr7:129250200-129250600	Enhancers	Right Atrium	heart
35	chr7:129250200-129250600	Flanking Active TSS	HepG2	liver
36	chr7:129250200-129250800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:129250200-129250800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:129250200-129250800	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr7:129250200-129250800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr7:129250200-129250800	Flanking Active TSS	Hela-S3	cervix
41	chr7:129250200-129250800	Flanking Active TSS	HMEC	breast
42	chr7:129250200-129251000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:129250200-129251000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:129250200-129251000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:129250200-129251000	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr7:129250200-129251000	Flanking Active TSS	Fetal Brain Male	brain
47	chr7:129250200-129251000	Flanking Active TSS	Fetal Brain Female	brain
48	chr7:129250200-129251000	Flanking Active TSS	Thymus	Thymus
49	chr7:129250200-129251200	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr7:129250200-129251200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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