Variant report

Variant	esv3327412
Chromosome Location	chr2:128144082-128146880
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:128146563-128146594	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:128144411-128145080	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:128145450-128145575	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:128145486-128145602	K562	blood:	n/a	n/a
5	ARID3A	chr2:128143833-128144189	HepG2	liver:	n/a	n/a
6	ATF2	chr2:128144702-128145203	GM12878	blood:	n/a	n/a
7	ATF2	chr2:128145303-128146473	GM12878	blood:	n/a	chr2:128145544-128145558 chr2:128145565-128145579
8	ATF2	chr2:128145671-128146219	GM12878	blood:	n/a	n/a
9	BACH1	chr2:128144732-128145063	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr2:128145419-128145592	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr2:128145796-128146029	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr2:128145848-128145862	K562	blood:	n/a	n/a
13	BATF	chr2:128146011-128146243	GM12878	blood:	n/a	n/a
14	BCL3	chr2:128144744-128145214	GM12878	blood:	n/a	n/a
15	BCLAF1	chr2:128144595-128145668	GM12878	blood:	n/a	chr2:128145438-128145451 chr2:128145473-128145486 chr2:128145499-128145508 chr2:128145472-128145485
16	BCLAF1	chr2:128144567-128146390	GM12878	blood:	n/a	chr2:128145438-128145451 chr2:128145473-128145486 chr2:128145499-128145508 chr2:128145472-128145485
17	BHLHE40	chr2:128144500-128146232	K562	blood:	n/a	n/a
18	BHLHE40	chr2:128144678-128146053	HepG2	liver:	n/a	n/a
19	BHLHE40	chr2:128144610-128146377	GM12878	blood:	n/a	n/a
20	BHLHE40	chr2:128146494-128146586	K562	blood:	n/a	n/a
21	BRCA1	chr2:128144995-128145952	HepG2	liver:	n/a	n/a
22	BRCA1	chr2:128144837-128145100	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr2:128144670-128145029	H1-hESC	embryonic stem cell:	n/a	n/a
24	BRCA1	chr2:128145350-128145450	GM12878	blood:	n/a	n/a
25	BRCA1	chr2:128145523-128145618	Hela-S3	cervix:	n/a	n/a
26	CBX3	chr2:128145677-128146326	K562	blood:	n/a	n/a
27	CCNT2	chr2:128144568-128146092	K562	blood:	n/a	n/a
28	CEBPB	chr2:128144553-128145023	HepG2	liver:	n/a	n/a
29	CEBPB	chr2:128144774-128145026	HepG2	liver:	n/a	n/a
30	CEBPB	chr2:128143856-128144182	K562	blood:	n/a	chr2:128144045-128144056 chr2:128144046-128144057 chr2:128143993-128144006 chr2:128143993-128144004 chr2:128143993-128144006 chr2:128144045-128144056 chr2:128144045-128144058
31	CEBPB	chr2:128146481-128146783	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr2:128146543-128146690	K562	blood:	n/a	n/a
33	CEBPB	chr2:128144568-128144804	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr2:128143810-128145044	Hela-S3	cervix:	n/a	chr2:128144045-128144056 chr2:128144046-128144057 chr2:128143993-128144006 chr2:128143993-128144004 chr2:128143993-128144006 chr2:128144045-128144056 chr2:128144045-128144058 chr2:128144269-128144280
35	CEBPB	chr2:128143891-128144102	HepG2	liver:	n/a	chr2:128144045-128144056 chr2:128144046-128144057 chr2:128143993-128144006 chr2:128143993-128144004 chr2:128143993-128144006 chr2:128144045-128144056 chr2:128144045-128144058
36	CEBPB	chr2:128143850-128144209	MCF-7	breast:	n/a	chr2:128144045-128144056 chr2:128144046-128144057 chr2:128143993-128144006 chr2:128143993-128144004 chr2:128143993-128144006 chr2:128144045-128144056 chr2:128144045-128144058
37	CEBPB	chr2:128144642-128144952	IMR90	lung:	n/a	n/a
38	CEBPB	chr2:128143732-128144329	A549	lung:	n/a	chr2:128144045-128144056 chr2:128144046-128144057 chr2:128143993-128144006 chr2:128143993-128144004 chr2:128143993-128144006 chr2:128144045-128144056 chr2:128144045-128144058 chr2:128144269-128144280
39	CEBPB	chr2:128143828-128144235	HepG2	liver:	n/a	chr2:128144045-128144056 chr2:128144046-128144057 chr2:128143993-128144006 chr2:128143993-128144004 chr2:128143993-128144006 chr2:128144045-128144056 chr2:128144045-128144058
40	CEBPB	chr2:128145285-128146186	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr2:128144538-128144798	K562	blood:	n/a	n/a
42	CEBPB	chr2:128143837-128144209	IMR90	lung:	n/a	chr2:128144045-128144056 chr2:128144046-128144057 chr2:128143993-128144006 chr2:128143993-128144004 chr2:128143993-128144006 chr2:128144045-128144056 chr2:128144045-128144058
43	CEBPB	chr2:128146515-128146765	HepG2	liver:	n/a	n/a
44	CEBPB	chr2:128143833-128144221	A549	lung:	n/a	chr2:128144045-128144056 chr2:128144046-128144057 chr2:128143993-128144006 chr2:128143993-128144004 chr2:128143993-128144006 chr2:128144045-128144056 chr2:128144045-128144058
45	CEBPB	chr2:128143812-128144240	A549	lung:	n/a	chr2:128144045-128144056 chr2:128144046-128144057 chr2:128143993-128144006 chr2:128143993-128144004 chr2:128143993-128144006 chr2:128144045-128144056 chr2:128144045-128144058
46	CEBPD	chr2:128144736-128145994	HepG2	liver:	n/a	n/a
47	CEBPD	chr2:128144761-128145220	HepG2	liver:	n/a	n/a
48	CHD1	chr2:128143649-128147067	IMR90	lung:	n/a	chr2:128145167-128145177
49	CHD1	chr2:128144476-128146698	GM12878	blood:	n/a	chr2:128145167-128145177
50	CHD2	chr2:128144917-128145054	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:128145435-128145485	RPTEC	kidney:	n/a
2	chr2:128145662-128145712	Jurkat	blood:	n/a
3	chr2:128145269-128145319	NHBE	bronchial:	n/a
4	chr2:128144817-128144867	HMEC	breast:	n/a
5	chr2:128145671-128145721	AG04449	skin:	fetal
6	chr2:128146352-128146402	NH-A	brain:	n/a
7	chr2:128145269-128145319	U87	brain:	n/a
8	chr2:128144817-128144867	PFSK-1	brain:	n/a
9	chr2:128145671-128145721	BJ	skin:	n/a
10	chr2:128145435-128145485	HCT-116	colon:	n/a
11	chr2:128146352-128146402	GM12892	blood:	n/a
12	chr2:128144817-128144867	SKMC	muscle:	n/a
13	chr2:128145671-128145721	T-47D	breast:	n/a
14	chr2:128145662-128145712	SK-N-SH	brain:	n/a
15	chr2:128145435-128145485	HEK293	kidney:	embryo
16	chr2:128145662-128145712	HEEpiC	esophagus:	n/a
17	chr2:128145269-128145319	Hela-S3	cervix:	n/a
18	chr2:128146352-128146402	AG04449	skin:	fetal
19	chr2:128145671-128145721	AG09309	skin:	n/a
20	chr2:128145662-128145712	AoSMC	blood vessel:	n/a
21	chr2:128146352-128146402	HNPCEpiC	eye:	n/a
22	chr2:128145435-128145485	GM19239	blood:	n/a
23	chr2:128145269-128145319	HNPCEpiC	eye:	n/a
24	chr2:128145435-128145485	T-47D	breast:	n/a
25	chr2:128145662-128145712	RPTEC	kidney:	n/a
26	chr2:128145662-128145712	ovcar-3	ovarian:	n/a
27	chr2:128145896-128145946	NB4	blood:	n/a
28	chr2:128145435-128145485	HUVEC	blood vessel:	n/a
29	chr2:128146352-128146402	RPTEC	kidney:	n/a
30	chr2:128145896-128145946	HEEpiC	esophagus:	n/a
31	chr2:128145662-128145712	GM12891	blood:	n/a
32	chr2:128145435-128145485	SK-N-SH	brain:	n/a
33	chr2:128145671-128145721	ProgFib	skin:	n/a
34	chr2:128145435-128145485	AG09309	skin:	n/a
35	chr2:128145435-128145485	GM12892	blood:	n/a
36	chr2:128145269-128145319	HMEC	breast:	n/a
37	chr2:128145896-128145946	PFSK-1	brain:	n/a
38	chr2:128145269-128145319	K562	blood:	n/a
39	chr2:128145671-128145721	HNPCEpiC	eye:	n/a
40	chr2:128145896-128145946	GM12891	blood:	n/a
41	chr2:128145435-128145485	HCPEpiC	choroid plexus:	n/a
42	chr2:128146352-128146402	AoSMC	blood vessel:	n/a
43	chr2:128146352-128146402	SKMC	muscle:	n/a
44	chr2:128145435-128145485	LNCaP	prostate:	n/a
45	chr2:128146352-128146402	HMEC	breast:	n/a
46	chr2:128146352-128146402	HCF	heart:	n/a
47	chr2:128145671-128145721	HEK293	kidney:	embryo
48	chr2:128145671-128145721	HepG2	liver:	n/a
49	chr2:128146352-128146402	HEEpiC	esophagus:	n/a
50	chr2:128144817-128144867	HCM	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:128142847..128144835-chr2:128235432..128237017,2	MCF-7	breast:
2	chr2:128143841..128146885-chr2:128179410..128184717,5	MCF-7	breast:
3	chr2:128143823..128146469-chr2:128456940..128459025,2	MCF-7	breast:
4	chr2:128143986..128147167-chr2:128178825..128181533,4	MCF-7	breast:
5	chr2:127822075..127822831-chr2:128145042..128145699,2	Hela-S3	cervix:
6	chr2:128145128..128146772-chr2:128281228..128284838,3	MCF-7	breast:
7	chr2:128144539..128145445-chr2:128165335..128166197,2	MCF-7	breast:
8	chr2:128050445..128053038-chr2:128144842..128147674,3	K562	blood:
9	chr2:128100404..128103030-chr2:128144500..128146639,3	MCF-7	breast:
10	chr2:128123227..128125802-chr2:128143081..128145387,2	MCF-7	breast:
11	chr2:128100303..128102941-chr2:128143349..128145550,2	MCF-7	breast:
12	chr1:23885549..23886356-chr2:128145254..128145774,2	HCT-116	colon:
13	chr2:120435826..120437483-chr2:128143933..128146415,2	MCF-7	breast:
14	chr13:21347604..21348144-chr2:128145436..128146340,2	NB4	blood:
15	chr17:45726968..45727634-chr2:128145066..128146033,2	HCT-116	colon:
16	chr15:101834992..101835585-chr2:128145166..128145728,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PROC-1	chr2:128145685-128145887	NONHSAT074148
2	lnc-PROC-1	chr2:128146687-128146761	NONHSAT074149
3	lnc-PROC-1	chr2:128146457-128146574	NONHSAT074149
4	lnc-PROC-1	chr2:128146043-128146574	NONHSAT074152
5	lnc-PROC-1	chr2:128146687-128146958	NONHSAT074150
6	lnc-PROC-1	chr2:128146457-128146574	NONHSAT074148
7	lnc-PROC-1	chr2:128146687-128146953	NONHSAT074153
8	lnc-PROC-1	chr2:128145948-128146574	NONHSAT074151
9	lnc-PROC-1	chr2:128146457-128146576	NONHSAT074150
10	lnc-PROC-1	chr2:128146687-128146761	NONHSAT074151
11	lnc-PROC-1	chr2:128145811-128145889	NONHSAT074150
12	lnc-PROC-1	chr2:128146190-128146574	NONHSAT074153
13	lnc-PROC-1	chr2:128146706-128146761	ENSG00000236682
14	lnc-PROC-1	chr2:128145787-128145887	NONHSAT074149
15	lnc-PROC-1	chr2:128146687-128146761	NONHSAT074152
16	lnc-PROC-1	chr2:128146687-128146924	NONHSAT074148

Variant related genes	Relation type
MAP3K2	TF binding region
ENSG00000236682	TF binding region
MAP3K2	CpG island
ENSG00000236682	CpG island
ENSG00000136717	chromatin interactions
ENSG00000264075	chromatin interactions
ENSG00000173349	chromatin interactions
ENSG00000150456	chromatin interactions
ENSG00000169967	chromatin interactions
ENSG00000117318	chromatin interactions
ENSG00000131876	chromatin interactions
ENSG00000163161	chromatin interactions
ENSG00000108424	chromatin interactions
ENSG00000115718	chromatin interactions
ENSG00000163166	chromatin interactions
ENSG00000144120	chromatin interactions
BRI3BP	miRNA target sites

Extended variants
information (count: 125 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs976899	chr2:128144115-128144116	Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187007816	chr2:128144157-128144158	Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs7563929	chr2:128144179-128144180	Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs146974993	chr2:128144185-128144186	Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs570482719	chr2:128144187-128144188	Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs7604883	chr2:128144216-128144217	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs192990586	chr2:128144219-128144220	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs7607802	chr2:128144244-128144245	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs11436115	chr2:128144247-128144248	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs398042652	chr2:128144255-128144256	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs76055132	chr2:128144256-128144257	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs539666852	chr2:128144283-128144284	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs7607907	chr2:128144286-128144287	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs79774499	chr2:128144292-128144293	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs138218160	chr2:128144301-128144302	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs555687299	chr2:128144364-128144365	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs57547812	chr2:128144393-128144394	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs115164220	chr2:128144398-128144399	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs55871356	chr2:128144430-128144431	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs571351237	chr2:128144433-128144434	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs4528712	chr2:128144549-128144550	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs201936616	chr2:128144561-128144562	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs562512039	chr2:128144576-128144577	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs531575888	chr2:128144578-128144579	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs548505693	chr2:128144585-128144586	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs540014056	chr2:128144614-128144615	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs527925690	chr2:128144638-128144639	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs114090016	chr2:128144639-128144640	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs570469661	chr2:128144656-128144657	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs141497688	chr2:128144659-128144660	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs539492178	chr2:128144669-128144670	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs556275433	chr2:128144682-128144683	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs56033800	chr2:128144700-128144701	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs535436008	chr2:128144709-128144710	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs114629483	chr2:128144711-128144712	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs12989081	chr2:128144731-128144732	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs534525443	chr2:128144776-128144777	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs116946164	chr2:128144781-128144782	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs182509985	chr2:128144815-128144816	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs545920348	chr2:128144825-128144826	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs562627129	chr2:128144827-128144828	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs576067189	chr2:128144835-128144836	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs72848635	chr2:128144846-128144847	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs561630999	chr2:128144874-128144875	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs562253975	chr2:128144913-128144914	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs150512155	chr2:128144925-128144926	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs375491286	chr2:128144934-128144935	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs147068060	chr2:128144968-128144969	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs527377025	chr2:128144974-128144975	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs68074132	chr2:128144975-128144976	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Cancer	17440070	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:536 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128123400-128144200	Weak transcription	Colonic Mucosa	Colon
2	chr2:128134600-128144200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:128134600-128144400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:128134600-128144400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:128139400-128144400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:128139600-128144200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:128140800-128144400	Weak transcription	Aorta	Aorta
8	chr2:128140800-128144400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:128140800-128144400	Weak transcription	Lung	lung
10	chr2:128140800-128144400	Weak transcription	Spleen	Spleen
11	chr2:128142000-128144400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:128142200-128144400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr2:128142400-128144200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:128142400-128144200	Enhancers	Adipose Nuclei	Adipose
15	chr2:128142400-128144800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:128142600-128144200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr2:128142600-128144400	Enhancers	Fetal Intestine Small	intestine
18	chr2:128142600-128144400	Weak transcription	Gastric	stomach
19	chr2:128142600-128144400	Weak transcription	Left Ventricle	heart
20	chr2:128142600-128144400	Weak transcription	Pancreas	Pancrea
21	chr2:128142600-128144400	Enhancers	Placenta Amnion	Placenta Amnion
22	chr2:128142600-128144400	Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr2:128142600-128144400	Weak transcription	Small Intestine	intestine
24	chr2:128142600-128144600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:128142800-128144200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr2:128142800-128144200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:128142800-128144400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:128142800-128144800	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr2:128143200-128144200	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr2:128143200-128144200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr2:128143200-128144200	Flanking Active TSS	NHEK	skin
32	chr2:128143200-128144400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:128143200-128144800	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr2:128143200-128144800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr2:128143200-128144800	Flanking Active TSS	Dnd41	blood
36	chr2:128143200-128145000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr2:128143200-128146200	Active TSS	Psoas Muscle	Psoas
38	chr2:128143400-128144200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr2:128143400-128144400	Active TSS	Primary monocytes fromperipheralblood	blood
40	chr2:128143400-128144400	Enhancers	Colon Smooth Muscle	Colon
41	chr2:128143400-128145800	Active TSS	Muscle Satellite Cultured Cells	--
42	chr2:128143400-128145800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:128143600-128144200	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr2:128143600-128144200	Flanking Active TSS	Fetal Lung	lung
45	chr2:128143600-128144400	Enhancers	Fetal Brain Male	brain
46	chr2:128143600-128144600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:128143600-128144800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:128143600-128145800	Active TSS	Fetal Intestine Large	intestine
49	chr2:128143600-128145800	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr2:128143600-128146000	Active TSS	HSMMtube	muscle

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