Variant report

Variant	rs17071501
Chromosome Location	chr8:4671057-4671058
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10113508	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[YRI][hapmap]
rs10113531	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs10156221	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs10156226	0.82[EUR][1000 genomes]
rs12674540	1.00[CEU][hapmap];0.83[JPT][hapmap]
rs12674578	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs12674959	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap]
rs12675445	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs12675737	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12675793	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12677327	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12677863	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12678251	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12678702	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12679612	0.94[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs12680174	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1561356	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1561357	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1561358	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17071406	1.00[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17071407	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17071408	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17071409	0.94[CHB][hapmap];0.83[JPT][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17071412	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17071413	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17071414	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17071417	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17071420	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17071435	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17071450	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17071459	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.84[YRI][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17071462	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17071481	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17071510	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17071540	0.84[JPT][hapmap]
rs17071546	0.84[JPT][hapmap]
rs17071555	1.00[CEU][hapmap];0.92[YRI][hapmap]
rs17071569	1.00[CEU][hapmap];0.89[JPT][hapmap];0.86[YRI][hapmap]
rs17071573	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs17071579	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap]
rs17071583	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2028225	1.00[CEU][hapmap]
rs2118572	1.00[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2118574	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2118575	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2164907	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28376909	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28413498	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28469770	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28477851	0.82[ASN][1000 genomes]
rs28668596	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28702435	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28719486	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28737227	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4256614	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs4292710	1.00[CEU][hapmap]
rs4875387	0.84[JPT][hapmap]
rs4875388	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs4875390	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs58024148	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61058298	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6993597	1.00[CEU][hapmap]
rs7010443	0.94[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs7011467	0.94[CHB][hapmap];0.83[ASN][1000 genomes]
rs7839952	0.88[CHB][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes]
rs7840092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7842352	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7843673	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9314543	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9644370	0.93[CHB][hapmap]
rs9644372	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9644373	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9644374	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9644375	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889939	chr8:4033186-4718648	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv465386	chr8:4467334-4676661	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv609861	chr8:4467334-4676661	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv34055	chr8:4486892-4745355	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv609876	chr8:4494811-5092970	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1029480	chr8:4497596-5081032	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv831214	chr8:4498127-4679475	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv498130	chr8:4532988-5176376	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv831216	chr8:4566554-4728115	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv437592	chr8:4610345-4718921	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv465393	chr8:4610345-4777295	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv609883	chr8:4610345-4777295	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv442086	chr8:4610897-4710428	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	esv3692959	chr8:4611071-4711611	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	esv34237	chr8:4617778-4709513	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	esv34896	chr8:4617778-4718921	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv1022129	chr8:4619724-4688555	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv870012	chr8:4626477-4689895	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
19	nsv1015889	chr8:4631791-4685677	Enhancers Weak transcription Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
20	nsv539402	chr8:4631791-4685677	Active TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
21	nsv438023	chr8:4632105-4704541	Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
22	nsv1021073	chr8:4634836-4741497	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
23	esv1849961	chr8:4636093-4739974	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
24	nsv1031952	chr8:4638594-4691865	Weak transcription Active TSS Enhancers	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
25	nsv1015317	chr8:4638594-4701095	Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
26	nsv889970	chr8:4654394-4681869	Active TSS Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
27	nsv1024155	chr8:4654598-4698536	Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
28	nsv539403	chr8:4654598-4698536	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
29	nsv1015915	chr8:4654598-4719011	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
30	nsv1020515	chr8:4654598-4729060	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
31	nsv889971	chr8:4656695-4679752	Weak transcription Active TSS Enhancers	n/a	n/a	inside rSNPs	diseases
32	nsv889972	chr8:4656695-4681869	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
33	nsv1022294	chr8:4660204-4718921	Enhancers ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
34	nsv972204	chr8:4666465-4685737	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
35	nsv609888	chr8:4667896-4676661	Enhancers Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
36	nsv609889	chr8:4667896-4677622	Enhancers Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4670000-4671600	Weak transcription	Fetal Brain Male	brain

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