Variant report

Variant	esv1851519
Chromosome Location	chr5:37835398-37840642
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:779)
CpG islands
(count:2014)
Chromatin interactive
region (count:16)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:779 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:37837698-37837765	K562	blood:	n/a	n/a
2	BACH1	chr5:37837404-37837991	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr5:37836746-37836914	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr5:37840444-37840796	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr5:37839864-37840661	HepG2	liver:	n/a	chr5:37839968-37839984 chr5:37839973-37839989 chr5:37839947-37839963
6	BHLHE40	chr5:37837686-37837818	K562	blood:	n/a	n/a
7	BHLHE40	chr5:37837276-37837843	GM12878	blood:	n/a	chr5:37837555-37837571
8	CBX3	chr5:37837443-37837839	K562	blood:	n/a	n/a
9	CCNT2	chr5:37837427-37837778	K562	blood:	n/a	n/a
10	CHD1	chr5:37839012-37839158	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD1	chr5:37840578-37840766	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD1	chr5:37836615-37838066	IMR90	lung:	n/a	n/a
13	CHD2	chr5:37837320-37837481	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr5:37840379-37840789	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr5:37836446-37836465	H1-hESC	embryonic stem cell:	n/a	n/a
16	CREB1	chr5:37837477-37837747	A549	lung:	n/a	n/a
17	CREB1	chr5:37836587-37837005	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTBP2	chr5:37839040-37840731	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTBP2	chr5:37834793-37835438	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTBP2	chr5:37836328-37837949	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr5:37837540-37837690	GM12875	blood:	n/a	chr5:37837658-37837679 chr5:37837659-37837672 chr5:37837656-37837674
22	CTCF	chr5:37837580-37837730	HCPEpiC	choroid plexus:	n/a	chr5:37837658-37837679 chr5:37837659-37837672 chr5:37837656-37837674
23	CTCF	chr5:37838340-37838490	GM12867	blood:	n/a	n/a
24	CTCF	chr5:37837466-37837887	K562	blood:	n/a	chr5:37837658-37837679 chr5:37837659-37837672 chr5:37837656-37837674
25	CTCF	chr5:37837565-37837730	SK-N-SH_RA	brain:	n/a	chr5:37837658-37837679 chr5:37837659-37837672 chr5:37837656-37837674
26	CTCF	chr5:37836940-37837090	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr5:37837600-37837750	GM12875	blood:	n/a	chr5:37837658-37837679 chr5:37837659-37837672 chr5:37837656-37837674
28	CTCF	chr5:37837200-37837350	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr5:37838260-37838410	A549	lung:	n/a	n/a
30	CTCF	chr5:37838260-37838410	GM12872	blood:	n/a	n/a
31	CTCF	chr5:37840460-37840610	HVMF	connective:	n/a	n/a
32	CTCF	chr5:37837641-37837679	HepG2	liver:	n/a	chr5:37837658-37837679 chr5:37837659-37837672 chr5:37837656-37837674
33	CTCF	chr5:37840520-37840670	AG09319	gingival:	n/a	n/a
34	CTCF	chr5:37839940-37840090	SAEC	small airway:	n/a	n/a
35	CTCF	chr5:37840500-37840650	HFF-Myc	foreskin:	n/a	n/a
36	CTCF	chr5:37840440-37840590	NHDF-neo	bronchial:	n/a	n/a
37	CTCF	chr5:37838640-37838790	AG09309	skin:	n/a	chr5:37838657-37838670
38	CTCF	chr5:37838300-37838450	AG10803	skin:	n/a	n/a
39	CTCF	chr5:37837200-37837350	NHEK	skin:	n/a	n/a
40	CTCF	chr5:37837553-37837772	ECC-1	luminal epithelium:	n/a	chr5:37837658-37837679 chr5:37837659-37837672 chr5:37837656-37837674
41	CTCF	chr5:37838400-37838550	HMEC	breast:	n/a	n/a
42	CTCF	chr5:37840480-37840630	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr5:37840504-37840593	GM12892	blood:	n/a	n/a
44	CTCF	chr5:37837548-37837745	SK-N-SH_RA	brain:	n/a	chr5:37837658-37837679 chr5:37837659-37837672 chr5:37837656-37837674
45	CTCF	chr5:37838420-37838570	HA-sp	spinal cord:	n/a	n/a
46	CTCF	chr5:37839960-37840110	HEEpiC	esophagus:	n/a	n/a
47	CTCF	chr5:37840400-37840551	GM13977	blood:	n/a	n/a
48	CTCF	chr5:37837425-37837872	H1-hESC	embryonic stem cell:	n/a	chr5:37837658-37837679 chr5:37837659-37837672 chr5:37837656-37837674
49	CTCF	chr5:37840260-37840410	HA-sp	spinal cord:	n/a	n/a
50	CTCF	chr5:37840420-37840570	HMEC	breast:	n/a	n/a

(count:2014 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:37839407-37839457	HRPEpiC	eye:	n/a
2	chr5:37839407-37839457	HRPEpiC	eye:	n/a
3	chr5:37838871-37838921	RPTEC	kidney:	n/a
4	chr5:37837978-37838028	PFSK-1	brain:	n/a
5	chr5:37836119-37836169	LNCaP	prostate:	n/a
6	chr5:37839769-37839819	T-47D	breast:	n/a
7	chr5:37836246-37836296	AG04450	lung:	fetal
8	chr5:37836246-37836296	PrEC	prostate:	n/a
9	chr5:37836392-37836442	SK-N-SH	brain:	n/a
10	chr5:37836392-37836442	GM06990	blood:	n/a
11	chr5:37836392-37836442	BE2_C	brain:	n/a
12	chr5:37835889-37835939	HAEpiC	amniotic membrane:	n/a
13	chr5:37839407-37839457	HPAEpiC	pulmonary alveolar:	n/a
14	chr5:37836392-37836442	Hela-S3	cervix:	n/a
15	chr5:37839769-37839819	HCT-116	colon:	n/a
16	chr5:37835958-37836008	PrEC	prostate:	n/a
17	chr5:37839829-37839879	ECC-1	luminal epithelium:	n/a
18	chr5:37835784-37835834	HEK293	kidney:	embryo
19	chr5:37838871-37838921	AG10803	skin:	n/a
20	chr5:37835701-37835751	Caco-2	colon:	n/a
21	chr5:37839407-37839457	NHDF-neo	bronchial:	n/a
22	chr5:37838290-37838340	BE2_C	brain:	n/a
23	chr5:37839918-37839968	HCT-116	colon:	n/a
24	chr5:37836748-37836798	HNPCEpiC	eye:	n/a
25	chr5:37837463-37837513	HCT-116	colon:	n/a
26	chr5:37839923-37839973	HEEpiC	esophagus:	n/a
27	chr5:37837032-37837082	HCT-116	colon:	n/a
28	chr5:37840089-37840139	HCF	heart:	n/a
29	chr5:37839769-37839819	HEK293	kidney:	embryo
30	chr5:37836119-37836169	SKMC	muscle:	n/a
31	chr5:37840075-37840125	AG09309	skin:	n/a
32	chr5:37836119-37836169	ovcar-3	ovarian:	n/a
33	chr5:37837463-37837513	HAEpiC	amniotic membrane:	n/a
34	chr5:37837463-37837513	HUVEC	blood vessel:	n/a
35	chr5:37835965-37836015	GM12878	blood:	n/a
36	chr5:37837978-37838028	HNPCEpiC	eye:	n/a
37	chr5:37838425-37838475	NHDF-neo	bronchial:	n/a
38	chr5:37835506-37835556	ECC-1	luminal epithelium:	n/a
39	chr5:37837788-37837838	BE2_C	brain:	n/a
40	chr5:37838290-37838340	NB4	blood:	n/a
41	chr5:37835958-37836008	Hela-S3	cervix:	n/a
42	chr5:37838871-37838921	HMEC	breast:	n/a
43	chr5:37839918-37839968	AG04449	skin:	fetal
44	chr5:37836748-37836798	NB4	blood:	n/a
45	chr5:37836748-37836798	SK-N-MC	brain:	n/a
46	chr5:37837463-37837513	HRE	kidney:	n/a
47	chr5:37838563-37838613	HCPEpiC	choroid plexus:	n/a
48	chr5:37839829-37839879	Jurkat	blood:	n/a
49	chr5:37839943-37839993	AoSMC	blood vessel:	n/a
50	chr5:37835784-37835834	U87	brain:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:37840566..37843558-chr5:37850227..37851845,2	K562	blood:
2	chr5:37834038..37837439-chr5:37839505..37841588,3	MCF-7	breast:
3	chr5:37412800..37413850-chr5:37837177..37838175,5	MCF-7	breast:
4	chr5:37837224..37838097-chr5:38192931..38193847,7	K562	blood:
5	chr5:37837313..37837893-chr5:37900824..37901423,2	MCF-7	breast:
6	chr5:37837402..37838162-chr5:38190498..38191179,2	K562	blood:
7	chr5:37495029..37495917-chr5:37837475..37838072,2	MCF-7	breast:
8	chr5:37837439..37838044-chr5:38189117..38189728,2	MCF-7	breast:
9	chr5:37837099..37839105-chr5:37840105..37842875,2	K562	blood:
10	chr5:37837547..37838304-chr5:38192942..38193873,4	MCF-7	breast:
11	chr5:37837245..37837890-chr5:37900875..37901398,3	MCF-7	breast:
12	chr5:37836730..37838460-chr5:38192942..38193858,10	MCF-7	breast:
13	chr5:37413098..37413750-chr5:37837537..37838115,2	MCF-7	breast:
14	chr5:37837605..37839454-chr5:37840945..37842875,2	K562	blood:
15	chr5:37834038..37837439-chr5:37839505..37841588,3	MCF-7	breast:
16	chr5:37837235..37838357-chr5:38188854..38190044,6	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDR70-1	chr5:37840540-37840675	NR_103441
2	lnc-WDR70-1	chr5:37839970-37840675	NONHSAT101070
3	lnc-WDR70-1	chr5:37840540-37840675	ENSG00000248587.2
4	lnc-WDR70-1	chr5:37840631-37840675	XLOC_004341

No data

Variant related genes	Relation type
GDNF	TF binding region
GDNF-AS1	TF binding region
GDNF	CpG island
GDNF-AS1	CpG island
ENSG00000168621	chromatin interactions
ENSG00000248587	chromatin interactions

Extended variants
information (count: 177 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3812047	chr5:37835398-37835399	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540261483	chr5:37835463-37835464	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs548035115	chr5:37835470-37835471	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs143142348	chr5:37835479-37835480	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs138709472	chr5:37835515-37835516	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs45455796	chr5:37835588-37835589	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs551873996	chr5:37835627-37835628	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs375864735	chr5:37835636-37835637	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs111865265	chr5:37835701-37835702	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs529935219	chr5:37835752-37835753	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs548654413	chr5:37835757-37835758	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs34356040	chr5:37835760-37835761	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs566967182	chr5:37835794-37835795	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs187359589	chr5:37835910-37835911	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs552588236	chr5:37835915-37835916	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs571035750	chr5:37836035-37836036	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs538183779	chr5:37836139-37836140	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs2735274	chr5:37836159-37836160	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs556456594	chr5:37836181-37836182	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs7701481	chr5:37836191-37836192	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs535660830	chr5:37836197-37836198	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs570142546	chr5:37836222-37836223	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs191077756	chr5:37836272-37836273	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs141497706	chr5:37836301-37836302	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs572328076	chr5:37836302-37836303	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs200622996	chr5:37836310-37836311	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs553073713	chr5:37836318-37836319	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs7705065	chr5:37836369-37836370	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs11748435	chr5:37836377-37836378	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs539822051	chr5:37836383-37836384	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs558557269	chr5:37836466-37836467	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs576777509	chr5:37836506-37836507	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs544489368	chr5:37836511-37836512	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs182811932	chr5:37836535-37836536	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs555621572	chr5:37836594-37836595	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs542087077	chr5:37836743-37836744	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs560380839	chr5:37836759-37836760	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs7705860	chr5:37836760-37836761	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs552275582	chr5:37836772-37836773	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs566064073	chr5:37836790-37836791	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs570793606	chr5:37836895-37836896	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs531619501	chr5:37836918-37836919	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs550016807	chr5:37836932-37836933	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs187488326	chr5:37836996-37836997	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs137954947	chr5:37837016-37837017	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs11749171	chr5:37837032-37837033	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs2973036	chr5:37837035-37837036	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs2910700	chr5:37837066-37837067	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs544161794	chr5:37837099-37837100	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs141630754	chr5:37837102-37837103	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19197363	CNVD

Chromatin state (count:715 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37833400-37836600	Weak transcription	NHEK	skin
2	chr5:37833800-37835400	Bivalent/Poised TSS	Fetal Kidney	kidney
3	chr5:37834000-37835400	Bivalent Enhancer	Fetal Heart	heart
4	chr5:37834200-37835600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:37834200-37836600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
6	chr5:37834200-37837800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
7	chr5:37834200-37838200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
8	chr5:37834200-37838400	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr5:37834200-37839000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:37834200-37841000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr5:37834400-37835400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr5:37834400-37835400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr5:37834400-37835400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr5:37834400-37835400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:37834400-37835400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:37834400-37835400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
17	chr5:37834400-37835600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr5:37834400-37836000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:37834400-37836400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
20	chr5:37834400-37836800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:37834400-37836800	Bivalent Enhancer	Placenta	Placenta
22	chr5:37834400-37838800	Active TSS	Colon Smooth Muscle	Colon
23	chr5:37834400-37840600	Bivalent Enhancer	Fetal Brain Male	brain
24	chr5:37834400-37841400	Bivalent/Poised TSS	Colonic Mucosa	Colon
25	chr5:37834600-37835400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:37834600-37835400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr5:37834600-37835400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
28	chr5:37834600-37835400	Weak transcription	NHDF-Ad	bronchial
29	chr5:37834600-37835600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr5:37834600-37836200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
31	chr5:37834600-37836400	Weak transcription	HSMMtube	muscle
32	chr5:37834600-37836600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
33	chr5:37834600-37837800	Active TSS	Rectal Smooth Muscle	rectum
34	chr5:37834800-37835400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:37834800-37835400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:37834800-37835400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:37834800-37835400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:37834800-37835400	Bivalent Enhancer	Lung	lung
39	chr5:37834800-37835600	Bivalent Enhancer	Spleen	Spleen
40	chr5:37834800-37835600	Flanking Active TSS	NH-A	brain
41	chr5:37834800-37836800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
42	chr5:37835000-37835400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:37835000-37835400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:37835000-37835400	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
45	chr5:37835000-37835400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
46	chr5:37835000-37835600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
47	chr5:37835000-37835600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
48	chr5:37835000-37835800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
49	chr5:37835000-37836000	Bivalent Enhancer	Fetal Brain Female	brain
50	chr5:37835000-37836600	Weak transcription	Right Atrium	heart

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