Variant report

Variant	rs10865609
Chromosome Location	chr3:85521875-85521876
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:85520722..85524381-chr3:85549502..85554850,5	K562	blood:

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs1014796	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1030720	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10433499	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10511078	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10865611	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11127898	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11714549	0.91[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.96[TSI][hapmap];0.88[YRI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12054328	1.00[JPT][hapmap]
rs12487446	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12489307	0.92[TSI][hapmap]
rs12491707	1.00[JPT][hapmap]
rs12492753	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12494446	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap]
rs12498133	1.00[JPT][hapmap]
rs12629607	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs12631046	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12631345	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12638798	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap]
rs12639001	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap]
rs12639564	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1368744	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1368747	0.90[ASW][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1375556	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1375562	0.84[TSI][hapmap]
rs1375566	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1433710	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1433713	0.81[CEU][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1449386	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap]
rs1449401	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1449403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1465716	0.91[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.96[TSI][hapmap];0.88[YRI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1594795	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17023019	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap]
rs17023032	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17460569	0.80[CEU][hapmap]
rs1836131	0.82[ASN][1000 genomes]
rs1868533	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1897698	0.82[ASN][1000 genomes]
rs1900916	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs1900917	0.92[EUR][1000 genomes]
rs1992967	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2017293	0.91[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.96[TSI][hapmap];0.88[YRI][hapmap]
rs2018416	0.84[YRI][hapmap];0.82[ASN][1000 genomes]
rs2029134	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2044725	1.00[JPT][hapmap];0.88[YRI][hapmap]
rs2053105	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2077839	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2163970	0.81[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[ASN][1000 genomes]
rs2167043	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2326315	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2326319	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap]
rs2326381	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2875907	1.00[CHD][hapmap]
rs4856270	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4856272	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4856274	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4856278	1.00[CHB][hapmap]
rs4856568	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4856582	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs4856584	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4856597	0.91[EUR][1000 genomes]
rs4856599	0.92[TSI][hapmap]
rs55753638	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62250710	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62252517	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6549027	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6549031	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6762253	0.82[ASN][1000 genomes]
rs6771447	0.82[ASN][1000 genomes]
rs6772750	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6778223	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6781515	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap]
rs6807461	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6807666	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6809486	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6810225	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs726610	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs734298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7610238	0.82[ASN][1000 genomes]
rs7618494	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7623369	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7623474	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7623947	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7640828	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7647981	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7651113	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7652808	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs892365	0.91[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.96[TSI][hapmap];0.88[YRI][hapmap]
rs9309974	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9309978	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9824071	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.88[YRI][hapmap]
rs9824386	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9824840	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9825345	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs9831848	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9833972	0.83[CHD][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs9843953	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9846153	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9847998	1.00[ASW][hapmap];0.91[GIH][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap]
rs9854888	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9864170	0.85[TSI][hapmap]
rs9866182	0.82[ASN][1000 genomes]
rs9869121	0.84[AMR][1000 genomes]
rs9873752	0.90[ASW][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9879417	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9990095	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3419993	chr3:85030343-85663403	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
2	esv2753915	chr3:85071410-85624810	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1002238	chr3:85357855-85719373	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases
4	nsv536619	chr3:85357855-85719373	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases
5	nsv590904	chr3:85438564-85551403	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv590905	chr3:85438564-85797093	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv998829	chr3:85449960-85641099	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv536622	chr3:85449960-85641099	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv526621	chr3:85470642-85667683	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv1009512	chr3:85472690-85533487	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
11	nsv536623	chr3:85472690-85533487	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
12	nsv1013601	chr3:85489536-85570465	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
13	nsv536624	chr3:85489536-85570465	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
14	nsv1009927	chr3:85497666-85669155	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv1010541	chr3:85505839-85870597	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv536625	chr3:85505839-85870597	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	esv2762338	chr3:85520915-85577233	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85512600-85522400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr3:85513000-85526000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr3:85519200-85536800	Weak transcription	Fetal Brain Male	brain
4	chr3:85520600-85522000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:85521800-85522600	Enhancers	Brain Anterior Caudate	brain
6	chr3:85521800-85523000	Enhancers	Cortex derived primary cultured neurospheres	brain

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