Variant report

Variant	rs259051
Chromosome Location	chr5:79703543-79703544
allele	A/G
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	POLR2A	chr5:79703369-79704452	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr5:79703360-79704469	HepG2	liver:	n/a	n/a
3	MXI1	chr5:79702723-79704576	HepG2	liver:	n/a	n/a
4	UBTF	chr5:79703192-79704740	K562	blood:	n/a	n/a
5	POLR2A	chr5:79703336-79703856	GM12892	blood:	n/a	n/a
6	ZMIZ1	chr5:79703410-79704457	K562	blood:	n/a	n/a
7	EGR1	chr5:79703294-79704122	HCT-116	colon:	n/a	chr5:79703781-79703796 chr5:79703821-79703830 chr5:79704030-79704040 chr5:79703693-79703702 chr5:79703743-79703752
8	TAF1	chr5:79703282-79704536	ECC-1	luminal epithelium:	n/a	n/a
9	FOXP2	chr5:79703493-79703998	SK-N-MC	brain:	n/a	n/a
10	E2F4	chr5:79703439-79704444	K562	blood:	n/a	chr5:79703821-79703830 chr5:79704031-79704040 chr5:79704314-79704324 chr5:79703743-79703752
11	POLR2A	chr5:79703007-79704198	GM12878	blood:	n/a	n/a
12	SP1	chr5:79703382-79704122	A549	lung:	n/a	chr5:79704032-79704041 chr5:79703847-79703856 chr5:79703848-79703857 chr5:79704030-79704042 chr5:79704030-79704042 chr5:79703787-79703797 chr5:79704031-79704041 chr5:79704032-79704041 chr5:79704027-79704041 chr5:79703848-79703857 chr5:79704031-79704040 chr5:79704031-79704041
13	ELF1	chr5:79703344-79703911	A549	lung:	n/a	chr5:79703694-79703703 chr5:79703692-79703705 chr5:79703693-79703704 chr5:79703693-79703704 chr5:79703471-79703480
14	POLR2A	chr5:79703373-79704082	HL-60	blood:	n/a	n/a
15	TAF1	chr5:79703431-79704044	PFSK-1	brain:	n/a	n/a
16	WRNIP1	chr5:79703516-79703993	GM12878	blood:	n/a	n/a
17	NRF1	chr5:79703360-79704013	H1-hESC	embryonic stem cell:	n/a	chr5:79703510-79703524 chr5:79703817-79703831 chr5:79703739-79703753 chr5:79703820-79703834 chr5:79703819-79703830 chr5:79703742-79703751 chr5:79703820-79703831 chr5:79703513-79703527 chr5:79703742-79703753
18	CHD2	chr5:79703390-79704552	Hela-S3	cervix:	n/a	chr5:79704032-79704042
19	RFX5	chr5:79703119-79704717	Hela-S3	cervix:	n/a	n/a
20	GABPA	chr5:79703241-79704004	MCF-7	breast:	n/a	chr5:79703510-79703524 chr5:79703817-79703831 chr5:79703739-79703753 chr5:79703820-79703834 chr5:79703742-79703751 chr5:79703820-79703831 chr5:79703513-79703527 chr5:79703742-79703753
21	RCOR1	chr5:79703160-79704538	Hela-S3	cervix:	n/a	n/a
22	HMGN3	chr5:79703361-79704495	K562	blood:	n/a	n/a
23	TAF1	chr5:79703361-79704453	ECC-1	luminal epithelium:	n/a	n/a
24	MAFK	chr5:79703509-79703794	HepG2	liver:	n/a	n/a
25	ELF1	chr5:79703247-79704095	MCF-7	breast:	n/a	chr5:79703694-79703703 chr5:79703692-79703705 chr5:79703693-79703704 chr5:79703693-79703704 chr5:79703471-79703480
26	HDAC2	chr5:79703351-79704024	HepG2	liver:	n/a	chr5:79703444-79703463
27	POLR2A	chr5:79703265-79704609	HEK293	kidney:	n/a	n/a
28	POLR2A	chr5:79703202-79704465	GM12878	blood:	n/a	n/a
29	MAX	chr5:79703270-79704404	GM12878	blood:	n/a	chr5:79703781-79703791
30	ELF1	chr5:79703268-79703876	K562	blood:	n/a	chr5:79703694-79703703 chr5:79703692-79703705 chr5:79703693-79703704 chr5:79703693-79703704 chr5:79703471-79703480
31	KAP1	chr5:79703422-79704530	U2OS	brain:	n/a	n/a
32	IRF1	chr5:79703448-79704087	K562	blood:	n/a	chr5:79704030-79704044
33	MXI1	chr5:79703303-79704818	Hela-S3	cervix:	n/a	n/a
34	BHLHE40	chr5:79703172-79704648	K562	blood:	n/a	chr5:79704245-79704261 chr5:79704124-79704140
35	POLR2A	chr5:79703172-79704507	GM18526	blood:	n/a	n/a
36	TAF1	chr5:79703374-79703916	GM12892	blood:	n/a	n/a
37	POLR2A	chr5:79702707-79704564	HepG2	liver:	n/a	n/a
38	POLR2A	chr5:79703111-79704520	MCF-7	breast:	n/a	n/a
39	POLR2A	chr5:79703391-79704116	GM12892	blood:	n/a	n/a
40	CHD1	chr5:79703149-79704099	GM12878	blood:	n/a	chr5:79704032-79704042
41	SIN3AK20	chr5:79703366-79704530	PANC-1	pancreas:	n/a	n/a
42	ELF1	chr5:79703349-79703919	SK-N-SH	brain:	n/a	chr5:79703694-79703703 chr5:79703692-79703705 chr5:79703693-79703704 chr5:79703693-79703704 chr5:79703471-79703480
43	CCNT2	chr5:79703349-79704499	K562	blood:	n/a	chr5:79704031-79704040
44	E2F4	chr5:79703428-79703993	MCF10A-Er-Src	breast:	n/a	chr5:79703821-79703830 chr5:79703743-79703752
45	POLR2A	chr5:79702988-79704475	K562	blood:	n/a	n/a
46	CHD2	chr5:79703456-79704323	GM12878	blood:	n/a	chr5:79704032-79704042
47	POLR2A	chr5:79703175-79704548	Hela-S3	cervix:	n/a	n/a
48	TAF1	chr5:79703405-79703741	GM12891	blood:	n/a	n/a
49	GTF2F1	chr5:79703428-79704024	K562	blood:	n/a	n/a
50	POLR2A	chr5:79703315-79704383	GM10847	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:79703505-79703555	HCT-116	colon:	n/a
2	chr5:79703505-79703555	Jurkat	blood:	n/a
3	chr5:79703505-79703555	LNCaP	prostate:	n/a
4	chr5:79703505-79703555	ovcar-3	ovarian:	n/a
5	chr5:79703505-79703555	A549	lung:	n/a
6	chr5:79703505-79703555	HRE	kidney:	n/a
7	chr5:79703505-79703555	H1-hESC	embryonic stem cell:	embryo
8	chr5:79703505-79703555	CMK	blood:	n/a
9	chr5:79703505-79703555	RPTEC	kidney:	n/a
10	chr5:79703505-79703555	MCF10A-Er-Src	breast:	n/a
11	chr5:79703505-79703555	HMEC	breast:	n/a
12	chr5:79703505-79703555	NHDF-neo	bronchial:	n/a
13	chr5:79703505-79703555	U87	brain:	n/a
14	chr5:79703505-79703555	Hepatocyte	liver:	n/a
15	chr5:79703505-79703555	NB4	blood:	n/a
16	chr5:79703505-79703555	BE2_C	brain:	n/a
17	chr5:79703505-79703555	GM12878	blood:	n/a
18	chr5:79703505-79703555	PANC-1	pancreas:	n/a
19	chr5:79703505-79703555	K562	blood:	n/a
20	chr5:79703505-79703555	IMR90	lung:	fetal
21	chr5:79703505-79703555	HEEpiC	esophagus:	n/a
22	chr5:79703505-79703555	T-47D	breast:	n/a
23	chr5:79703505-79703555	PFSK-1	brain:	n/a
24	chr5:79703505-79703555	HEK293	kidney:	embryo
25	chr5:79703505-79703555	AG09309	skin:	n/a
26	chr5:79703505-79703555	HUVEC	blood vessel:	n/a
27	chr5:79703505-79703555	AG04449	skin:	fetal
28	chr5:79703505-79703555	GM12891	blood:	n/a
29	chr5:79703505-79703555	HRPEpiC	eye:	n/a
30	chr5:79703505-79703555	GM06990	blood:	n/a
31	chr5:79703505-79703555	NT2-D1	testis:	n/a
32	chr5:79703505-79703555	NHBE	bronchial:	n/a
33	chr5:79703505-79703555	AG04450	lung:	fetal
34	chr5:79703505-79703555	HPAEpiC	pulmonary alveolar:	n/a
35	chr5:79703505-79703555	ProgFib	skin:	n/a
36	chr5:79703505-79703555	PrEC	prostate:	n/a
37	chr5:79703505-79703555	SKMC	muscle:	n/a
38	chr5:79703505-79703555	HIPEpiC	eye:	n/a
39	chr5:79703505-79703555	Caco-2	colon:	n/a
40	chr5:79703505-79703555	BJ	skin:	n/a
41	chr5:79703505-79703555	SK-N-MC	brain:	n/a
42	chr5:79703505-79703555	AG09319	gingival:	n/a
43	chr5:79703505-79703555	AG10803	skin:	n/a
44	chr5:79703505-79703555	GM19239	blood:	n/a
45	chr5:79703505-79703555	HepG2	liver:	n/a
46	chr5:79703505-79703555	HCM	heart:	n/a
47	chr5:79703505-79703555	HNPCEpiC	eye:	n/a
48	chr5:79703505-79703555	Hela-S3	cervix:	n/a
49	chr5:79703505-79703555	SAEC	small airway:	n/a
50	chr5:79703505-79703555	GM12892	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:55181207..55182033-chr5:79703422..79704027,2	HCT-116	colon:
2	chr5:79691909..79693908-chr5:79702034..79703785,2	MCF-7	breast:
3	chr1:109642631..109643330-chr5:79703375..79703936,2	HCT-116	colon:
4	chr2:85804413..85805189-chr5:79703085..79703712,2	Hela-S3	cervix:
5	chr17:39834521..39835466-chr5:79703117..79703745,2	Hela-S3	cervix:
6	chr15:99645187..99645735-chr5:79703316..79703974,2	Hela-S3	cervix:
7	chr2:43453490..43454408-chr5:79703158..79703991,2	Hela-S3	cervix:
8	chr5:79702243..79704187-chr6:26156488..26158123,2	MCF-7	breast:
9	chr16:31492241..31494807-chr5:79702904..79705274,2	MCF-7	breast:
10	chr5:79702114..79706204-chr5:79947823..79953616,8	MCF-7	breast:
11	chr5:79550504..79553635-chr5:79702210..79704282,3	K562	blood:
12	chr1:149858873..149859782-chr5:79703428..79703977,2	Hela-S3	cervix:

Variant related genes	Relation type
ZFYVE16	TF binding region
ZFYVE16	CpG island
ENSG00000243725	Chromatin interaction
ENSG00000228716	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000152518	Chromatin interaction
ENSG00000118640	Chromatin interaction
ENSG00000182253	Chromatin interaction
ENSG00000270066	Chromatin interaction
ENSG00000164300	Chromatin interaction
ENSG00000140675	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000113318	Chromatin interaction
ENSG00000184270	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10433	1.00[CHB][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs10474621	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10474629	1.00[CEU][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap]
rs10942926	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1097307	1.00[CHB][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1097308	0.95[ASN][1000 genomes]
rs1097309	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1103116	0.87[ASN][1000 genomes]
rs1104243	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13354660	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13359253	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1363775	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1423113	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16877755	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16877757	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs168938	0.95[ASN][1000 genomes]
rs168939	1.00[CHB][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs168940	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs171595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs171596	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs171821	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs173599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs174075	0.84[ASN][1000 genomes]
rs174076	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1820119	0.84[ASN][1000 genomes]
rs185100	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs187479	1.00[CHB][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap]
rs192313	1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs194541	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2251759	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs248995	0.85[CHB][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap]
rs248999	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs249000	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs249003	0.80[ASW][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap]
rs249004	0.92[EUR][1000 genomes]
rs249006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs249016	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs249021	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs249023	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs249024	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs249025	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs249026	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs249027	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs249028	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs249030	0.86[ASW][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap];0.81[LWK][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs249032	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs249033	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs249037	1.00[CHB][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs249038	0.80[ASW][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs249039	1.00[CHB][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2544591	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544592	0.95[ASN][1000 genomes]
rs2544593	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2544598	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2544599	0.84[ASN][1000 genomes]
rs2544600	0.86[CHB][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2544603	0.84[ASN][1000 genomes]
rs2544604	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2547487	0.95[ASN][1000 genomes]
rs259023	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs259024	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs259025	1.00[CHB][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs259026	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs259027	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs259028	0.80[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259029	0.80[ASW][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs259030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259031	0.84[ASN][1000 genomes]
rs259032	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259033	1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs259034	0.84[ASN][1000 genomes]
rs259036	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs259037	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs259038	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs259039	0.85[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259040	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259041	1.00[ASN][1000 genomes]
rs259042	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259043	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs259044	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259046	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259048	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259049	1.00[JPT][hapmap]
rs259052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs259053	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259054	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259055	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2599508	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28496723	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28555465	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3095851	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3096111	0.90[ASN][1000 genomes]
rs394076	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs394170	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs401612	0.84[ASN][1000 genomes]
rs4704674	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs557346	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs6869519	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6885891	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6887302	1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6898411	1.00[CEU][hapmap]
rs701380	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs835726	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs835729	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs856765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs856772	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs969567	0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948807	chr5:79549207-79805765	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv518480	chr5:79586085-79748382	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1028027	chr5:79694699-79841752	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 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	chr5:79702600-79703600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr5:79702600-79704600	Active TSS	Colonic Mucosa	Colon
3	chr5:79702600-79705400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:79702600-79705400	Active TSS	Brain Anterior Caudate	brain
5	chr5:79702600-79705400	Active TSS	HSMMtube	muscle
6	chr5:79702600-79706000	Active TSS	Fetal Kidney	kidney
7	chr5:79702600-79706000	Active TSS	NHLF	lung
8	chr5:79702800-79704000	Active TSS	HepG2	liver
9	chr5:79702800-79704400	Active TSS	Primary T cells from cord blood	blood
10	chr5:79702800-79704600	Active TSS	Adipose Nuclei	Adipose
11	chr5:79702800-79704600	Active TSS	Liver	Liver
12	chr5:79702800-79704600	Active TSS	Left Ventricle	heart
13	chr5:79702800-79704600	Active TSS	Lung	lung
14	chr5:79702800-79704800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:79702800-79704800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:79702800-79704800	Active TSS	Thymus	Thymus
17	chr5:79702800-79705000	Active TSS	Fetal Intestine Large	intestine
18	chr5:79702800-79705200	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr5:79702800-79705400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:79702800-79705400	Active TSS	Brain Cingulate Gyrus	brain
21	chr5:79702800-79705400	Active TSS	Hela-S3	cervix
22	chr5:79702800-79705400	Active TSS	HSMM	muscle
23	chr5:79702800-79705600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:79702800-79705600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:79702800-79705600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:79702800-79705800	Active TSS	Brain Angular Gyrus	brain
27	chr5:79702800-79705800	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr5:79702800-79705800	Active TSS	Fetal Stomach	stomach
29	chr5:79702800-79706000	Active TSS	Psoas Muscle	Psoas
30	chr5:79702800-79706000	Active TSS	Right Ventricle	heart
31	chr5:79702800-79706200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:79702800-79706200	Active TSS	Ovary	ovary
33	chr5:79702800-79706400	Active TSS	Right Atrium	heart
34	chr5:79702800-79706800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr5:79703000-79703600	Active TSS	Fetal Heart	heart
36	chr5:79703000-79703800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr5:79703000-79704000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:79703000-79704600	Active TSS	Esophagus	oesophagus
39	chr5:79703000-79704600	Active TSS	Pancreas	Pancrea
40	chr5:79703000-79704600	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr5:79703000-79704600	Active TSS	Small Intestine	intestine
42	chr5:79703000-79704800	Active TSS	H9 Cell Line	embryonic stem cell
43	chr5:79703000-79704800	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr5:79703000-79704800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr5:79703000-79704800	Active TSS	Aorta	Aorta
46	chr5:79703000-79704800	Active TSS	Placenta Amnion	Placenta Amnion
47	chr5:79703000-79704800	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr5:79703000-79704800	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr5:79703000-79705000	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr5:79703000-79705000	Active TSS	iPS-20b Cell Line	embryonic stem cell

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