Variant report

Variant	rs2075219
Chromosome Location	chr7:103848683-103848684
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:347)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:347 , 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	POLR2A	chr7:103847675-103849323	K562	blood:	n/a	n/a
2	HCFC1	chr7:103848096-103849096	K562	blood:	n/a	n/a
3	POLR2A	chr7:103847810-103849384	PFSK-1	brain:	n/a	n/a
4	ATF1	chr7:103848018-103848733	K562	blood:	n/a	n/a
5	CREB1	chr7:103848170-103848860	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:103846735-103849911	MCF10A-Er-Src	breast:	n/a	n/a
7	RCOR1	chr7:103847971-103849018	Hela-S3	cervix:	n/a	n/a
8	TAF1	chr7:103848188-103848718	PFSK-1	brain:	n/a	n/a
9	JUND	chr7:103847350-103848937	K562	blood:	n/a	n/a
10	MAX	chr7:103847017-103849289	NB4	blood:	n/a	n/a
11	MXI1	chr7:103847761-103849000	GM12878	blood:	n/a	n/a
12	POLR2A	chr7:103847769-103848842	Hela-S3	cervix:	n/a	n/a
13	ZNF143	chr7:103848243-103848983	K562	blood:	n/a	n/a
14	TCF12	chr7:103848020-103848817	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr7:103848113-103848862	SK-N-MC	brain:	n/a	n/a
16	ZNF143	chr7:103848189-103848841	Hela-S3	cervix:	n/a	n/a
17	CREB1	chr7:103848191-103848826	K562	blood:	n/a	n/a
18	SP1	chr7:103848088-103848791	A549	lung:	n/a	n/a
19	RCOR1	chr7:103848207-103848929	K562	blood:	n/a	n/a
20	SRF	chr7:103848190-103848831	ECC-1	luminal epithelium:	n/a	chr7:103848282-103848296
21	MAX	chr7:103848124-103848796	H1-hESC	embryonic stem cell:	n/a	n/a
22	NFIC	chr7:103848257-103848966	GM12878	blood:	n/a	n/a
23	EBF1	chr7:103848311-103848786	GM12878	blood:	n/a	n/a
24	MAX	chr7:103847992-103849222	A549	lung:	n/a	n/a
25	CREB1	chr7:103848171-103848826	HepG2	liver:	n/a	n/a
26	MAX	chr7:103848065-103848862	A549	lung:	n/a	n/a
27	TAF1	chr7:103848174-103848766	GM12891	blood:	n/a	n/a
28	POLR2A	chr7:103848091-103848813	GM12892	blood:	n/a	n/a
29	REST	chr7:103848244-103848770	SK-N-SH	brain:	n/a	n/a
30	PML	chr7:103848105-103848893	MCF-7	breast:	n/a	n/a
31	POLR2A	chr7:103848073-103848900	HUVEC	blood vessel:	n/a	n/a
32	SIX5	chr7:103848291-103848694	A549	lung:	n/a	n/a
33	HCFC1	chr7:103847216-103849458	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr7:103847584-103849511	GM18951	blood:	n/a	n/a
35	POLR2A	chr7:103847868-103848857	GM12892	blood:	n/a	n/a
36	TAF1	chr7:103848171-103848731	HepG2	liver:	n/a	n/a
37	TAF1	chr7:103847984-103848938	A549	lung:	n/a	n/a
38	ELF1	chr7:103848229-103848729	HepG2	liver:	n/a	chr7:103848484-103848493
39	TAF1	chr7:103848199-103848789	SK-N-SH	brain:	n/a	n/a
40	E2F4	chr7:103848227-103849266	K562	blood:	n/a	n/a
41	POLR2A	chr7:103847830-103848895	HL-60	blood:	n/a	n/a
42	CEBPB	chr7:103847882-103849114	Hela-S3	cervix:	n/a	n/a
43	MAX	chr7:103847892-103848808	HepG2	liver:	n/a	n/a
44	POLR2A	chr7:103847767-103848827	NB4	blood:	n/a	n/a
45	POLR2A	chr7:103848081-103848880	A549	lung:	n/a	n/a
46	PAX5	chr7:103848229-103848781	GM12878	blood:	n/a	n/a
47	POLR2A	chr7:103846546-103849823	MCF10A-Er-Src	breast:	n/a	n/a
48	E2F6	chr7:103848242-103848946	H1-hESC	embryonic stem cell:	n/a	n/a
49	MXI1	chr7:103847231-103848997	IMR90	lung:	n/a	n/a
50	POLR2A	chr7:103847914-103848882	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:11200058..11200892-chr7:103848094..103848876,2	Hela-S3	cervix:
2	chr7:103628555..103630772-chr7:103847007..103849982,2	K562	blood:
3	chr1:174992554..174993204-chr7:103848517..103849356,2	Hela-S3	cervix:
4	chr7:103848404..103850130-chr7:104653038..104655393,2	MCF-7	breast:
5	chr11:111797157..111798115-chr7:103848389..103849351,2	NB4	blood:
6	chr16:3930315..3931064-chr7:103847985..103848730,2	HCT-116	colon:
7	chr1:205600489..205601100-chr7:103847992..103848705,2	MCF-7	breast:

No data

Variant related genes	Relation type
ORC5	TF binding region
ENSG00000228393	Chromatin interaction
ENSG00000130164	Chromatin interaction
ENSG00000150764	Chromatin interaction
ENSG00000005339	Chromatin interaction
ENSG00000005483	Chromatin interaction
ENSG00000158711	Chromatin interaction
ENSG00000120333	Chromatin interaction
ENSG00000239569	Chromatin interaction
ENSG00000189056	Chromatin interaction

Extended variants
information (count: 134 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs10227080	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10227508	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10230891	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10231179	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10231189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10236259	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10236401	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10239281	0.83[CEU][hapmap];0.83[JPT][hapmap];0.85[EUR][1000 genomes]
rs10242507	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10246176	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10256548	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10256554	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10265732	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10265960	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10265985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10269939	1.00[CEU][hapmap];0.83[JPT][hapmap];0.93[EUR][1000 genomes]
rs1035168	0.96[EUR][1000 genomes]
rs10808128	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs10953406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10953407	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10953408	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs10953409	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10953410	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11773168	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11973848	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11976032	0.87[EUR][1000 genomes]
rs11980573	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11984388	0.88[CEU][hapmap];0.83[JPT][hapmap];0.83[EUR][1000 genomes]
rs12534723	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12535884	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12537665	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12537685	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12667514	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12668873	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12669853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12705177	0.87[CEU][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12705185	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12705189	0.86[CEU][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13223411	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13223419	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13223492	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13223504	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13237931	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13238019	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13238105	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13438174	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13438176	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13438761	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1557663	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs194836	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs194840	0.88[CEU][hapmap];0.87[JPT][hapmap];0.82[EUR][1000 genomes]
rs194842	0.87[CEU][hapmap];0.83[JPT][hapmap];0.82[EUR][1000 genomes]
rs194850	0.88[CEU][hapmap];0.83[JPT][hapmap];0.82[EUR][1000 genomes]
rs194852	0.82[EUR][1000 genomes]
rs194853	0.87[CEU][hapmap];0.83[JPT][hapmap];0.82[EUR][1000 genomes]
rs194854	0.88[CEU][hapmap];0.83[JPT][hapmap];0.82[EUR][1000 genomes]
rs194856	0.83[CEU][hapmap];0.80[EUR][1000 genomes]
rs194862	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs194863	0.83[CEU][hapmap];0.80[EUR][1000 genomes]
rs194864	0.83[CEU][hapmap]
rs194866	0.80[EUR][1000 genomes]
rs2058720	0.82[JPT][hapmap];0.84[EUR][1000 genomes]
rs2058721	0.83[EUR][1000 genomes]
rs2075217	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2075218	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2075220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2078807	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2188284	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2192965	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2214009	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2299407	0.87[CEU][hapmap];0.83[JPT][hapmap];0.82[EUR][1000 genomes]
rs2307400	1.00[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap];0.97[EUR][1000 genomes]
rs2385139	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2385140	0.93[YRI][hapmap]
rs28372965	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28681560	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28842615	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28859908	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3087358	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3808011	0.88[CEU][hapmap];0.83[JPT][hapmap];0.83[EUR][1000 genomes]
rs3808012	0.87[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3808013	0.87[CEU][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3808015	0.83[EUR][1000 genomes]
rs3823978	0.85[EUR][1000 genomes]
rs4006647	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4140860	0.86[AFR][1000 genomes]
rs4286867	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4370466	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4370467	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4445159	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4461829	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4486111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4529396	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4636136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4729963	0.98[EUR][1000 genomes]
rs4729971	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4729973	0.95[CEU][hapmap];0.83[JPT][hapmap];0.88[EUR][1000 genomes]
rs55848	0.87[CEU][hapmap];0.83[JPT][hapmap];0.82[EUR][1000 genomes]
rs56669148	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62487963	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6944360	0.88[CEU][hapmap];0.83[JPT][hapmap];0.83[EUR][1000 genomes]
rs6944653	0.82[EUR][1000 genomes]
rs6946357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6946587	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6948440	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6948583	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs6948673	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6948723	0.96[CEU][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6948967	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6952639	0.87[CEU][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6962612	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6962673	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6967816	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6968451	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6975834	1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap];0.94[EUR][1000 genomes]
rs6979022	0.88[CEU][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6979695	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs7350041	1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap];0.98[EUR][1000 genomes]
rs741325	1.00[CEU][hapmap];0.83[JPT][hapmap];0.94[EUR][1000 genomes]
rs756754	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7778396	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs7795570	0.83[JPT][hapmap];0.94[EUR][1000 genomes]
rs7806228	1.00[CEU][hapmap];0.84[CHB][hapmap];0.83[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9641322	0.83[CEU][hapmap];0.83[JPT][hapmap];0.82[EUR][1000 genomes]
rs9656092	0.97[EUR][1000 genomes]
rs971813	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9791845	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9918581	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9918639	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019640	chr7:103813522-103884705	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
2	nsv1026481	chr7:103813522-103890770	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
3	esv2762692	chr7:103813522-103890782	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
4	nsv526062	chr7:103817597-103891085	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	nsv608065	chr7:103817597-103990755	Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103846200-103849200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:103846200-103849400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:103846400-103849400	Active TSS	A549	lung
4	chr7:103846600-103849000	Active TSS	K562	blood
5	chr7:103846600-103849400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:103846800-103849200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:103847000-103849000	Active TSS	Fetal Kidney	kidney
8	chr7:103847000-103849200	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr7:103847000-103849200	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr7:103847000-103849400	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr7:103847000-103849400	Active TSS	Right Ventricle	heart
12	chr7:103847000-103849400	Active TSS	GM12878-XiMat	blood
13	chr7:103847200-103849000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:103847200-103849000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:103847200-103849000	Active TSS	Fetal Intestine Large	intestine
16	chr7:103847200-103849200	Active TSS	H1 Cell Line	embryonic stem cell
17	chr7:103847200-103849200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:103847200-103849200	Active TSS	Left Ventricle	heart
19	chr7:103847200-103849400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:103847400-103848800	Active TSS	Lung	lung
21	chr7:103847400-103848800	Active TSS	NH-A	brain
22	chr7:103847400-103849000	Active TSS	H9 Cell Line	embryonic stem cell
23	chr7:103847400-103849000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:103847400-103849000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:103847400-103849000	Active TSS	Esophagus	oesophagus
26	chr7:103847400-103849000	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr7:103847400-103849000	Active TSS	Fetal Muscle Trunk	muscle
28	chr7:103847400-103849000	Active TSS	Pancreas	Pancrea
29	chr7:103847400-103849000	Active TSS	NHLF	lung
30	chr7:103847400-103849200	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr7:103847400-103849200	Active TSS	HSMM	muscle
32	chr7:103847400-103849400	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr7:103847400-103849400	Active TSS	Ovary	ovary
34	chr7:103847600-103848800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:103847600-103848800	Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr7:103847600-103848800	Active TSS	Colon Smooth Muscle	Colon
37	chr7:103847600-103848800	Active TSS	Fetal Brain Female	brain
38	chr7:103847600-103848800	Active TSS	Dnd41	blood
39	chr7:103847600-103848800	Active TSS	Osteobl	bone
40	chr7:103847600-103849000	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr7:103847600-103849000	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr7:103847600-103849000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr7:103847600-103849000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr7:103847600-103849000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:103847600-103849000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:103847600-103849000	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr7:103847600-103849000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:103847600-103849000	Active TSS	Fetal Brain Male	brain
49	chr7:103847600-103849000	Active TSS	Fetal Intestine Small	intestine
50	chr7:103847600-103849000	Active TSS	Fetal Muscle Leg	muscle

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