Variant report

Variant	esv3438921
Chromosome Location	chr10:99472487-99475335
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:538)
CpG islands
(count:673)
Chromatin interactive
region (count:13)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:538 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr10:99474237-99474492	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL3	chr10:99473590-99474380	A549	lung:	n/a	n/a
3	BCL3	chr10:99473686-99474613	A549	lung:	n/a	n/a
4	BCLAF1	chr10:99473744-99474137	GM12878	blood:	n/a	n/a
5	BHLHE40	chr10:99473517-99474088	K562	blood:	n/a	n/a
6	BHLHE40	chr10:99473649-99474237	GM12878	blood:	n/a	n/a
7	BHLHE40	chr10:99473808-99473986	A549	lung:	n/a	n/a
8	BRCA1	chr10:99473396-99473447	Hela-S3	cervix:	n/a	n/a
9	BRCA1	chr10:99474266-99474600	Hela-S3	cervix:	n/a	n/a
10	CBX3	chr10:99473626-99474139	K562	blood:	n/a	n/a
11	CCNT2	chr10:99473507-99474389	K562	blood:	n/a	n/a
12	CEBPB	chr10:99473745-99474308	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr10:99473113-99473156	K562	blood:	n/a	n/a
14	CEBPB	chr10:99473135-99473367	Hela-S3	cervix:	n/a	n/a
15	CHD1	chr10:99473425-99475908	IMR90	lung:	n/a	n/a
16	CHD1	chr10:99473845-99474064	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD1	chr10:99473173-99473461	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr10:99473788-99474154	GM12878	blood:	n/a	n/a
19	CHD2	chr10:99473785-99474114	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr10:99474357-99474603	K562	blood:	n/a	n/a
21	CHD2	chr10:99474332-99474870	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr10:99473806-99473908	K562	blood:	n/a	n/a
23	CHD2	chr10:99473111-99475410	Hela-S3	cervix:	n/a	n/a
24	CREB1	chr10:99473691-99474239	H1-hESC	embryonic stem cell:	n/a	n/a
25	CREB1	chr10:99473661-99474670	A549	lung:	n/a	n/a
26	CTBP2	chr10:99472900-99473427	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr10:99473841-99474093	Fibrobl	skin:	n/a	n/a
28	CTCF	chr10:99473680-99473830	RPTEC	kidney:	n/a	n/a
29	CTCF	chr10:99473940-99474090	SAEC	small airway:	n/a	n/a
30	CTCF	chr10:99474280-99474430	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr10:99473860-99474010	GM12867	blood:	n/a	n/a
32	CTCF	chr10:99473860-99474010	HCPEpiC	choroid plexus:	n/a	n/a
33	CTCF	chr10:99473506-99473547	GM12891	blood:	n/a	n/a
34	CTCF	chr10:99473900-99474050	A549	lung:	n/a	n/a
35	CTCF	chr10:99473850-99474081	Gliobla	brain:	n/a	n/a
36	CTCF	chr10:99473800-99473950	HCT-116	colon:	n/a	n/a
37	CTCF	chr10:99474020-99474170	GM12868	blood:	n/a	n/a
38	CTCF	chr10:99473900-99474050	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chr10:99473900-99474050	AG04450	lung:	n/a	n/a
40	CTCF	chr10:99473820-99473970	GM12872	blood:	n/a	n/a
41	CTCF	chr10:99473880-99474030	HA-sp	spinal cord:	n/a	n/a
42	CTCF	chr10:99473900-99474050	GM12871	blood:	n/a	n/a
43	CTCF	chr10:99473866-99474062	GM10248	blood:	n/a	n/a
44	CTCF	chr10:99473940-99474090	GM12865	blood:	n/a	n/a
45	CTCF	chr10:99473940-99474090	GM12864	blood:	n/a	n/a
46	CTCF	chr10:99473900-99474050	WERI-Rb-1	eye:	n/a	n/a
47	CTCF	chr10:99473860-99474010	HVMF	connective:	n/a	n/a
48	CTCF	chr10:99473868-99474115	Spleen_OC	spleen:	n/a	n/a
49	CTCF	chr10:99473220-99473370	AG04449	skin:	n/a	n/a
50	CTCF	chr10:99473793-99474128	GM12891	blood:	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	chr10:99473206-99473256	NT2-D1	testis:	n/a
2	chr10:99474813-99474863	HCT-116	colon:	n/a
3	chr10:99473206-99473256	NT2-D1	testis:	n/a
4	chr10:99474813-99474863	HCT-116	colon:	n/a
5	chr10:99473224-99473274	AG04450	lung:	fetal
6	chr10:99474151-99474201	NHBE	bronchial:	n/a
7	chr10:99474813-99474863	SKMC	muscle:	n/a
8	chr10:99474151-99474201	GM06990	blood:	n/a
9	chr10:99474151-99474201	GM19239	blood:	n/a
10	chr10:99473206-99473256	HepG2	liver:	n/a
11	chr10:99472988-99473038	HRPEpiC	eye:	n/a
12	chr10:99474521-99474571	T-47D	breast:	n/a
13	chr10:99474521-99474571	GM12878	blood:	n/a
14	chr10:99472988-99473038	AG10803	skin:	n/a
15	chr10:99472988-99473038	AG09309	skin:	n/a
16	chr10:99473759-99473809	U87	brain:	n/a
17	chr10:99474151-99474201	ECC-1	luminal epithelium:	n/a
18	chr10:99472988-99473038	LNCaP	prostate:	n/a
19	chr10:99474028-99474078	HCPEpiC	choroid plexus:	n/a
20	chr10:99473759-99473809	AG09309	skin:	n/a
21	chr10:99473085-99473135	NT2-D1	testis:	n/a
22	chr10:99473557-99473607	ProgFib	skin:	n/a
23	chr10:99474028-99474078	HL-60	blood:	n/a
24	chr10:99473032-99473082	SAEC	small airway:	n/a
25	chr10:99472988-99473038	AG04450	lung:	fetal
26	chr10:99474151-99474201	H1-hESC	embryonic stem cell:	embryo
27	chr10:99473759-99473809	GM19239	blood:	n/a
28	chr10:99473085-99473135	HCPEpiC	choroid plexus:	n/a
29	chr10:99473557-99473607	GM12878	blood:	n/a
30	chr10:99473759-99473809	HEK293	kidney:	embryo
31	chr10:99472988-99473038	GM12892	blood:	n/a
32	chr10:99474028-99474078	AG09319	gingival:	n/a
33	chr10:99474151-99474201	HIPEpiC	eye:	n/a
34	chr10:99472988-99473038	K562	blood:	n/a
35	chr10:99474521-99474571	BJ	skin:	n/a
36	chr10:99473206-99473256	ovcar-3	ovarian:	n/a
37	chr10:99473032-99473082	HIPEpiC	eye:	n/a
38	chr10:99472988-99473038	U87	brain:	n/a
39	chr10:99473085-99473135	GM19239	blood:	n/a
40	chr10:99474813-99474863	NT2-D1	testis:	n/a
41	chr10:99474813-99474863	T-47D	breast:	n/a
42	chr10:99473759-99473809	ovcar-3	ovarian:	n/a
43	chr10:99474028-99474078	HRE	kidney:	n/a
44	chr10:99473085-99473135	LNCaP	prostate:	n/a
45	chr10:99472988-99473038	ovcar-3	ovarian:	n/a
46	chr10:99474813-99474863	HCM	heart:	n/a
47	chr10:99474151-99474201	BJ	skin:	n/a
48	chr10:99472988-99473038	GM12878	blood:	n/a
49	chr10:99473224-99473274	IMR90	lung:	fetal
50	chr10:99474151-99474201	RPTEC	kidney:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:99446266..99448824-chr10:99470047..99473651,4	K562	blood:
2	chr10:99442762..99448311-chr10:99470830..99475549,8	MCF-7	breast:
3	chr10:99443080..99453237-chr10:99471420..99478243,12	MCF-7	breast:
4	chr10:99472472..99476089-chr10:99494153..99498366,9	MCF-7	breast:
5	chr10:99257277..99258845-chr10:99472952..99474913,2	MCF-7	breast:
6	chr10:99444910..99448624-chr10:99472151..99475238,4	K562	blood:
7	chr10:99472128..99477527-chr10:99495091..99498402,11	MCF-7	breast:
8	chr10:99443212..99444968-chr10:99474818..99476540,2	K562	blood:
9	chr1:40974148..40974666-chr10:99473878..99474717,2	Hela-S3	cervix:
10	chr10:99473490..99474131-chr17:41444618..41445483,3	Hela-S3	cervix:
11	chr10:99471547..99474270-chr10:99495747..99497533,2	K562	blood:
12	chr10:99473151..99473931-chr16:89557220..89557802,2	Hela-S3	cervix:
13	chr1:145382276..145382904-chr10:99474045..99474834,2	Hela-S3	cervix:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MARVELD1-1	chr10:99472930-99473042	NONHSAT015878
2	lnc-MARVELD1-1	chr10:99475078-99475162	NONHSAT015878
3	lnc-MARVELD1-1	chr10:99473274-99473318	NONHSAT015879
4	lnc-MARVELD1-1	chr10:99475078-99475162	NONHSAT015879
5	lnc-MARVELD1-1	chr10:99474451-99474827	NONHSAT015880

No data

Variant related genes	Relation type
MARVELD1	TF binding region
MARVELD1	CpG island
ENSG00000164002	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000155229	chromatin interactions
ENSG00000165886	chromatin interactions
ENSG00000119986	chromatin interactions
ENSG00000155256	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000197912	chromatin interactions
ENSG00000238287	chromatin interactions

Extended variants
information (count: 80 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368466081	chr10:99472514-99472515	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs530298286	chr10:99472523-99472524	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs60680281	chr10:99472524-99472525	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs202234623	chr10:99472526-99472527	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs12416481	chr10:99472534-99472535	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs12413809	chr10:99472542-99472543	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs564304128	chr10:99472570-99472571	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs56135194	chr10:99472630-99472631	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs150102747	chr10:99472678-99472679	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs571404590	chr10:99472689-99472690	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs568492855	chr10:99472692-99472693	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs12415272	chr10:99472710-99472711	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs80011039	chr10:99472722-99472723	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs567025046	chr10:99472731-99472732	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs566200935	chr10:99472796-99472797	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs138435644	chr10:99472808-99472809	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs142918187	chr10:99472838-99472839	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs370094852	chr10:99472848-99472849	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs569899953	chr10:99473020-99473021	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
20	rs537578315	chr10:99473027-99473028	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
21	rs555811799	chr10:99473088-99473089	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs117116014	chr10:99473091-99473092	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs541421998	chr10:99473103-99473104	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs554039546	chr10:99473114-99473115	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs572299663	chr10:99473123-99473124	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs182896046	chr10:99473361-99473362	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs11189341	chr10:99473379-99473380	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs564305005	chr10:99473405-99473406	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs544075155	chr10:99473419-99473420	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs531509055	chr10:99473438-99473439	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs543954614	chr10:99473555-99473556	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs562127950	chr10:99473598-99473599	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs11189342	chr10:99473666-99473667	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs187491162	chr10:99473695-99473696	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs71486131	chr10:99473729-99473730	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs566062139	chr10:99473739-99473740	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs193201710	chr10:99473742-99473743	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs538742443	chr10:99473846-99473847	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs533495298	chr10:99473864-99473865	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs375140972	chr10:99473967-99473968	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs552030454	chr10:99474017-99474018	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs569936888	chr10:99474065-99474066	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs537214932	chr10:99474068-99474069	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs555850463	chr10:99474112-99474113	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs567770755	chr10:99474127-99474128	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs535534198	chr10:99474164-99474165	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs553530921	chr10:99474180-99474181	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs571994772	chr10:99474215-99474216	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs112941381	chr10:99474231-99474232	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs545804643	chr10:99474303-99474304	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16912164	CNVD
Autosomal dominant partial epilepsy	18472482	CNVD
Breast cancer	16397240	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:570 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99462000-99472800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:99466000-99472600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:99466400-99472600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr10:99468400-99472800	Weak transcription	Liver	Liver
5	chr10:99469200-99472600	Weak transcription	Colonic Mucosa	Colon
6	chr10:99469400-99472600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr10:99469400-99472600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr10:99469400-99472600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr10:99469400-99472600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr10:99469400-99472600	Weak transcription	HMEC	breast
11	chr10:99469400-99472800	Weak transcription	Dnd41	blood
12	chr10:99469400-99472800	Weak transcription	K562	blood
13	chr10:99469600-99472600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr10:99469600-99472600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr10:99469600-99472800	Weak transcription	Aorta	Aorta
16	chr10:99469600-99472800	Weak transcription	Brain Substantia Nigra	brain
17	chr10:99469600-99472800	Weak transcription	Fetal Intestine Large	intestine
18	chr10:99469600-99472800	Weak transcription	Left Ventricle	heart
19	chr10:99469800-99472600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr10:99469800-99472600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr10:99469800-99472600	Weak transcription	Fetal Intestine Small	intestine
22	chr10:99469800-99472600	Weak transcription	Ovary	ovary
23	chr10:99469800-99472600	Weak transcription	A549	lung
24	chr10:99469800-99472600	Weak transcription	NH-A	brain
25	chr10:99469800-99472600	Weak transcription	NHEK	skin
26	chr10:99469800-99472800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr10:99469800-99472800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr10:99469800-99472800	Weak transcription	Right Ventricle	heart
29	chr10:99469800-99472800	Weak transcription	HSMMtube	muscle
30	chr10:99470000-99472600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr10:99470000-99472600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr10:99470000-99472600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr10:99470000-99472600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr10:99470000-99472600	Weak transcription	NHLF	lung
35	chr10:99470000-99472800	Weak transcription	HSMM	muscle
36	chr10:99471200-99472600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr10:99471400-99472800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr10:99471400-99472800	Enhancers	NHDF-Ad	bronchial
39	chr10:99471400-99473000	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr10:99471400-99473000	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr10:99471600-99472600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr10:99471600-99472600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr10:99471600-99472600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr10:99471600-99472600	Enhancers	Osteobl	bone
45	chr10:99471600-99472800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr10:99471600-99472800	Enhancers	Adipose Nuclei	Adipose
47	chr10:99471600-99472800	Enhancers	Fetal Muscle Trunk	muscle
48	chr10:99471600-99473000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr10:99471600-99473000	Enhancers	Placenta	Placenta
50	chr10:99471800-99472600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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