Variant report

Variant	esv3403794
Chromosome Location	chr3:52000337-52003085
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:331)
CpG islands
(count:488)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:331 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr3:52002182-52002551	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr3:52001721-52001788	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr3:52002050-52002079	K562	blood:	n/a	n/a
4	CCNT2	chr3:52001242-52002310	K562	blood:	n/a	chr3:52001718-52001727
5	CEBPB	chr3:52002396-52002720	H1-hESC	embryonic stem cell:	n/a	chr3:52002533-52002544
6	CEBPB	chr3:52002382-52002704	HepG2	liver:	n/a	chr3:52002533-52002544
7	CEBPB	chr3:52002525-52002704	K562	blood:	n/a	chr3:52002533-52002544
8	CEBPB	chr3:52002494-52002714	Hela-S3	cervix:	n/a	chr3:52002533-52002544
9	CEBPB	chr3:52002052-52002167	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr3:52001396-52001409	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr3:52002418-52002602	HepG2	liver:	n/a	chr3:52002533-52002544
12	CEBPD	chr3:52001594-52002522	HepG2	liver:	n/a	n/a
13	CHD1	chr3:52000913-52001418	IMR90	lung:	n/a	n/a
14	CHD1	chr3:52002046-52002144	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr3:52001658-52001840	K562	blood:	n/a	n/a
16	CHD2	chr3:52002123-52002659	H1-hESC	embryonic stem cell:	n/a	chr3:52002329-52002339
17	CHD2	chr3:52002430-52002639	K562	blood:	n/a	n/a
18	CHD2	chr3:52002032-52002038	HepG2	liver:	n/a	n/a
19	CHD2	chr3:52002287-52002568	HepG2	liver:	n/a	chr3:52002329-52002339
20	CHD2	chr3:52002249-52002449	GM12878	blood:	n/a	chr3:52002329-52002339
21	CHD2	chr3:52000996-52002698	Hela-S3	cervix:	n/a	chr3:52002329-52002339
22	CTBP2	chr3:52001997-52002726	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr3:52001000-52001150	GM12872	blood:	n/a	n/a
24	CTCF	chr3:52001140-52001290	GM12865	blood:	n/a	n/a
25	CTCF	chr3:52001020-52001170	HRE	kidney:	n/a	n/a
26	CTCF	chr3:52001657-52001755	Lung_OC	lung:	n/a	n/a
27	CTCF	chr3:52001121-52001278	GM19240	blood:	n/a	n/a
28	CTCF	chr3:52001180-52001330	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr3:52001104-52001262	GM12891	blood:	n/a	n/a
30	CTCF	chr3:52001120-52001258	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr3:52000980-52001130	HBMEC	blood vessel:	n/a	n/a
32	CTCF	chr3:52001060-52001210	AG04449	skin:	n/a	n/a
33	CTCF	chr3:52001164-52001210	MCF-7	breast:	n/a	n/a
34	CTCF	chr3:52001040-52001190	GM12873	blood:	n/a	n/a
35	CTCF	chr3:52001100-52001250	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr3:52001146-52001214	Fibrobl	skin:	n/a	n/a
37	CTCF	chr3:52001180-52001330	HUVEC	blood vessel:	n/a	n/a
38	CTCF	chr3:52001117-52001266	GM12892	blood:	n/a	n/a
39	CTCF	chr3:52001645-52001666	GM10248	blood:	n/a	n/a
40	CTCF	chr3:52001667-52001672	GM10248	blood:	n/a	n/a
41	CTCF	chr3:52001138-52001217	GM19239	blood:	n/a	n/a
42	CTCF	chr3:52001120-52001270	GM06990	blood:	n/a	n/a
43	CTCF	chr3:52001900-52002050	GM12875	blood:	n/a	n/a
44	CTCF	chr3:52001643-52001729	Pancreas_OC	pancreas:	n/a	n/a
45	CTCF	chr3:52001100-52001250	GM12869	blood:	n/a	n/a
46	CTCF	chr3:52001620-52001770	GM12872	blood:	n/a	n/a
47	CTCF	chr3:52001138-52001251	MCF-7	breast:	n/a	n/a
48	CTCF	chr3:52002200-52002350	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr3:52001100-52001250	HCPEpiC	choroid plexus:	n/a	n/a
50	CTCF	chr3:52001040-52001190	GM12874	blood:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:52001952-52002002	RPTEC	kidney:	n/a
2	chr3:52002555-52002605	HNPCEpiC	eye:	n/a
3	chr3:52001477-52001527	U87	brain:	n/a
4	chr3:52002169-52002219	HCF	heart:	n/a
5	chr3:52001778-52001828	HepG2	liver:	n/a
6	chr3:52001426-52001476	SK-N-SH_RA	brain:	n/a
7	chr3:52001477-52001527	LNCaP	prostate:	n/a
8	chr3:52001995-52002045	HepG2	liver:	n/a
9	chr3:52001952-52002002	PANC-1	pancreas:	n/a
10	chr3:52001952-52002002	T-47D	breast:	n/a
11	chr3:52001995-52002045	AG09309	skin:	n/a
12	chr3:52001995-52002045	NHDF-neo	bronchial:	n/a
13	chr3:52002169-52002219	HEK293	kidney:	embryo
14	chr3:52001778-52001828	Jurkat	blood:	n/a
15	chr3:52001426-52001476	A549	lung:	n/a
16	chr3:52002169-52002219	HRPEpiC	eye:	n/a
17	chr3:52001995-52002045	GM12892	blood:	n/a
18	chr3:52002555-52002605	ECC-1	luminal epithelium:	n/a
19	chr3:52002555-52002605	AG10803	skin:	n/a
20	chr3:52001426-52001476	AG10803	skin:	n/a
21	chr3:52002500-52002550	HEK293	kidney:	embryo
22	chr3:52001995-52002045	PFSK-1	brain:	n/a
23	chr3:52001952-52002002	HEEpiC	esophagus:	n/a
24	chr3:52002500-52002550	HAEpiC	amniotic membrane:	n/a
25	chr3:52001778-52001828	HPAEpiC	pulmonary alveolar:	n/a
26	chr3:52001778-52001828	HRE	kidney:	n/a
27	chr3:52002169-52002219	GM06990	blood:	n/a
28	chr3:52002500-52002550	BJ	skin:	n/a
29	chr3:52001477-52001527	NB4	blood:	n/a
30	chr3:52002169-52002219	H1-hESC	embryonic stem cell:	embryo
31	chr3:52001995-52002045	HIPEpiC	eye:	n/a
32	chr3:52001477-52001527	BJ	skin:	n/a
33	chr3:52002169-52002219	HRCEpiC	kidney:	n/a
34	chr3:52001995-52002045	K562	blood:	n/a
35	chr3:52001995-52002045	GM12878	blood:	n/a
36	chr3:52001778-52001828	SK-N-SH	brain:	n/a
37	chr3:52001952-52002002	HIPEpiC	eye:	n/a
38	chr3:52002555-52002605	SK-N-SH_RA	brain:	n/a
39	chr3:52001995-52002045	BE2_C	brain:	n/a
40	chr3:52001995-52002045	MCF-7	breast:	n/a
41	chr3:52002555-52002605	GM19239	blood:	n/a
42	chr3:52001778-52001828	HAEpiC	amniotic membrane:	n/a
43	chr3:52001995-52002045	HL-60	blood:	n/a
44	chr3:52001477-52001527	SAEC	small airway:	n/a
45	chr3:52001778-52001828	HIPEpiC	eye:	n/a
46	chr3:52001426-52001476	GM12878	blood:	n/a
47	chr3:52002555-52002605	BE2_C	brain:	n/a
48	chr3:52001778-52001828	T-47D	breast:	n/a
49	chr3:52002169-52002219	PrEC	prostate:	n/a
50	chr3:52001995-52002045	BJ	skin:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:51987928..51991924-chr3:52001407..52003695,4	MCF-7	breast:
2	chr3:51421943..51424034-chr3:52001693..52003789,2	MCF-7	breast:
3	chr3:51974263..51976425-chr3:51999030..52003412,4	K562	blood:
4	chr3:51976428..51980212-chr3:52001978..52006587,6	MCF-7	breast:
5	chr3:51978894..51981977-chr3:52001614..52003382,3	MCF-7	breast:
6	chr3:51972287..51978873-chr3:51998179..52003667,9	MCF-7	breast:
7	chr3:51976807..51978359-chr3:51999918..52002472,2	K562	blood:
8	chr3:51997248..52000056-chr3:52000079..52001783,2	MCF-7	breast:
9	chr3:52001556..52005448-chr3:52028528..52032420,5	MCF-7	breast:
10	chr3:51966649..51968588-chr3:51999482..52001370,2	K562	blood:
11	chr3:51974673..51977845-chr3:51999030..52003727,6	K562	blood:
12	chr3:51996322..51998656-chr3:51999527..52001457,4	MCF-7	breast:

No data

Variant related genes	Relation type
PCBP4	TF binding region
ABHD14A	TF binding region
PCBP4	CpG island
ABHD14A	CpG island
ENSG00000090097	chromatin interactions
ENSG00000114767	chromatin interactions
ENSG00000162244	chromatin interactions
ENSG00000180929	chromatin interactions
ENSG00000145050	chromatin interactions
ENSG00000041880	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539732196	chr3:52000360-52000361	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs569279481	chr3:52000423-52000424	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs533449641	chr3:52000535-52000536	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs141073926	chr3:52000552-52000553	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs150309075	chr3:52000611-52000612	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs534083965	chr3:52000706-52000707	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs549258597	chr3:52000733-52000734	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs567486301	chr3:52000740-52000741	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs537617736	chr3:52000819-52000820	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs184942477	chr3:52000845-52000846	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs548336947	chr3:52000931-52000932	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs538720699	chr3:52000953-52000954	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs78982507	chr3:52000967-52000968	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs571665134	chr3:52000969-52000970	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs558027435	chr3:52001014-52001015	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs569359197	chr3:52001015-52001016	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs562014697	chr3:52001052-52001053	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs7426999	chr3:52001071-52001072	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs544512699	chr3:52001170-52001171	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs563087744	chr3:52001411-52001412	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs533310468	chr3:52001668-52001669	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs35073296	chr3:52001718-52001719	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs560492821	chr3:52001725-52001726	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs527653860	chr3:52001731-52001732	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs549320087	chr3:52001732-52001733	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs34384339	chr3:52001745-52001746	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs35844151	chr3:52001797-52001798	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs537791851	chr3:52001848-52001849	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs371671629	chr3:52001859-52001860	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs569727643	chr3:52001903-52001904	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs371109182	chr3:52001935-52001936	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs531683534	chr3:52001967-52001968	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs373721990	chr3:52002013-52002014	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs549753979	chr3:52002020-52002021	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs375627911	chr3:52002036-52002037	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs537182863	chr3:52002081-52002082	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs571419085	chr3:52002163-52002164	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs538362024	chr3:52002227-52002228	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs553413681	chr3:52002258-52002259	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs137977399	chr3:52002289-52002290	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs199621351	chr3:52002331-52002332	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs577138136	chr3:52002332-52002333	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs181012645	chr3:52002355-52002356	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs554126945	chr3:52002362-52002363	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs116768310	chr3:52002391-52002392	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs544886713	chr3:52002443-52002444	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs562943906	chr3:52002473-52002474	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs568189526	chr3:52002490-52002491	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs76508138	chr3:52002570-52002571	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs545533998	chr3:52002581-52002582	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:667 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51988400-52000600	Weak transcription	Hela-S3	cervix
2	chr3:51990600-52000400	Weak transcription	Small Intestine	intestine
3	chr3:51990600-52000400	Weak transcription	HUVEC	blood vessel
4	chr3:51990600-52000800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr3:51990800-52000400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr3:51991000-52000400	Weak transcription	Stomach Mucosa	stomach
7	chr3:51991000-52000600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr3:51991200-52000400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr3:51991200-52000400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr3:51992800-52000400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:51993400-52000400	Weak transcription	Osteobl	bone
12	chr3:51994600-52000800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr3:51995000-52000400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr3:51995400-52000600	Enhancers	Left Ventricle	heart
15	chr3:51995600-52000400	Enhancers	Right Atrium	heart
16	chr3:51996200-52001000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:51996400-52000600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:51996600-52001200	Enhancers	Fetal Brain Male	brain
19	chr3:51996600-52001200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr3:51996800-52000400	Enhancers	Fetal Heart	heart
21	chr3:51997200-52000600	Weak transcription	Fetal Intestine Large	intestine
22	chr3:51997600-52000600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr3:51997800-52001200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr3:51998000-52000800	Enhancers	Pancreas	Pancrea
25	chr3:51998200-52000400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:51998400-52000600	Flanking Active TSS	Brain Germinal Matrix	brain
27	chr3:51998400-52000600	Flanking Active TSS	Brain Substantia Nigra	brain
28	chr3:51998400-52000800	Flanking Active TSS	Brain Cingulate Gyrus	brain
29	chr3:51998400-52000800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
30	chr3:51998600-52000400	Enhancers	Colon Smooth Muscle	Colon
31	chr3:51998600-52001200	Flanking Active TSS	Brain Angular Gyrus	brain
32	chr3:51998800-52000400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr3:51998800-52000600	Enhancers	Gastric	stomach
34	chr3:51998800-52000600	Weak transcription	Ovary	ovary
35	chr3:51999000-52000400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr3:51999000-52000800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
37	chr3:51999000-52000800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
38	chr3:51999000-52001200	Flanking Active TSS	Fetal Brain Female	brain
39	chr3:51999200-52000400	Enhancers	Fetal Kidney	kidney
40	chr3:51999200-52000600	Enhancers	Aorta	Aorta
41	chr3:51999200-52000800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
42	chr3:51999200-52001000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr3:51999200-52001200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:51999200-52001200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr3:51999400-52000400	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr3:51999400-52000600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr3:51999400-52000800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr3:51999400-52000800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
49	chr3:51999400-52000800	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr3:51999600-52000400	Flanking Active TSS	Brain Hippocampus Middle	brain

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