Variant report

Variant	rs4760662
Chromosome Location	chr12:49370857-49370858
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49370543..49373352-chr12:49387358..49390310,3	K562	blood:
2	chr12:49369680..49374710-chr12:49411684..49416052,5	K562	blood:
3	chr12:49209271..49210859-chr12:49368260..49371075,2	MCF-7	breast:
4	chr12:49370543..49373211-chr12:49387729..49389906,2	K562	blood:
5	chr12:49368203..49373775-chr12:49410781..49415457,6	K562	blood:
6	chr12:49370152..49372089-chr12:49373719..49376095,2	MCF-7	breast:
7	chr12:49370672..49373205-chr12:49390197..49394754,4	MCF-7	breast:
8	chr12:49328293..49330504-chr12:49369546..49372334,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000181418	Chromatin interaction
ENSG00000258283	Chromatin interaction
ENSG00000181929	Chromatin interaction
ENSG00000257913	Chromatin interaction
ENSG00000167535	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs1051886	0.88[CEU][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.81[LWK][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1054376	0.91[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10747556	0.80[ASW][hapmap];0.88[CEU][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];0.91[MKK][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes]
rs10747557	0.91[CEU][hapmap];0.80[CHB][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10747558	0.85[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10783293	0.81[CHD][hapmap];0.85[GIH][hapmap];0.84[MEX][hapmap]
rs10783294	0.80[ASW][hapmap];0.88[CEU][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.81[LWK][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs10783295	0.82[EUR][1000 genomes]
rs10783297	0.84[ASN][1000 genomes]
rs10875886	0.82[CHD][hapmap];0.85[GIH][hapmap];0.84[MEX][hapmap]
rs10875893	0.80[ASW][hapmap];0.88[CEU][hapmap];0.93[GIH][hapmap];0.81[LWK][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs10875894	0.80[ASW][hapmap];0.88[CEU][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.81[LWK][hapmap];0.88[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs10875895	0.84[EUR][1000 genomes]
rs10875897	0.80[ASW][hapmap];0.88[CEU][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10875898	0.87[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10875900	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10875901	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10875902	0.88[CEU][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1111662	0.82[CHD][hapmap];0.84[ASN][1000 genomes]
rs11168779	0.83[EUR][1000 genomes]
rs11168783	0.80[ASW][hapmap];0.88[CEU][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs11168784	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs11168785	0.80[ASW][hapmap];0.88[CEU][hapmap];0.93[GIH][hapmap];0.81[LWK][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs11168790	0.80[ASW][hapmap];0.88[CEU][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.81[LWK][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs11168792	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11168794	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11168795	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11168797	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11168798	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11168800	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11168801	0.80[ASN][1000 genomes]
rs11168803	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11168812	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11608916	0.81[EUR][1000 genomes]
rs11610459	0.84[EUR][1000 genomes]
rs11610497	0.84[EUR][1000 genomes]
rs11614474	0.84[EUR][1000 genomes]
rs12227240	0.81[EUR][1000 genomes]
rs12228521	0.81[EUR][1000 genomes]
rs12229275	0.83[EUR][1000 genomes]
rs12423542	0.80[ASW][hapmap];0.88[CEU][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.81[LWK][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1318692	0.83[EUR][1000 genomes]
rs1690182	0.85[ASN][1000 genomes]
rs1818996	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1830192	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2030900	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2070940	0.85[ASN][1000 genomes]
rs2073480	0.80[ASW][hapmap];0.88[CEU][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2131713	0.87[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2272311	0.80[ASW][hapmap];0.88[CEU][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.89[MKK][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2272312	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2368701	0.83[EUR][1000 genomes]
rs2453063	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2463175	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2641450	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2694839	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2694840	0.83[ASN][1000 genomes]
rs3741627	0.88[CEU][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.81[LWK][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3759146	0.80[ASW][hapmap];0.88[CEU][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3782353	0.88[CEU][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.81[LWK][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3809147	0.80[ASW][hapmap];0.88[CEU][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.81[LWK][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs3825182	0.80[ASW][hapmap];0.88[CEU][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3825184	0.82[CHD][hapmap]
rs4018510	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4237854	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4433614	0.83[EUR][1000 genomes]
rs4526804	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4760600	0.80[ASW][hapmap];0.88[CEU][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.81[LWK][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs4760661	0.83[EUR][1000 genomes]
rs4760663	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4760664	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4760665	0.83[EUR][1000 genomes]
rs4760666	0.80[ASW][hapmap];0.88[CEU][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.81[LWK][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4760667	0.86[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4760668	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58023472	0.84[EUR][1000 genomes]
rs59087236	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61941142	0.83[EUR][1000 genomes]
rs61942166	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61942167	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61942169	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61942207	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6580696	0.82[CHD][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7297958	0.83[CHD][hapmap];0.84[GIH][hapmap];0.84[MEX][hapmap]
rs7298330	0.84[EUR][1000 genomes]
rs7313988	0.85[ASN][1000 genomes]
rs7963018	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7963160	0.86[ASN][1000 genomes]
rs7976473	0.82[ASN][1000 genomes]
rs833820	0.83[ASN][1000 genomes]
rs833821	0.83[ASN][1000 genomes]
rs833822	0.82[CHD][hapmap];0.85[ASN][1000 genomes]
rs833827	0.85[ASN][1000 genomes]
rs833828	0.83[ASN][1000 genomes]
rs833839	0.92[ASN][1000 genomes]
rs833840	0.91[CHB][hapmap];0.91[CHD][hapmap];0.84[JPT][hapmap];0.92[ASN][1000 genomes]
rs833841	0.91[CHB][hapmap];0.93[CHD][hapmap];0.84[JPT][hapmap];0.91[ASN][1000 genomes]
rs833842	0.91[ASN][1000 genomes]
rs833843	0.91[CHB][hapmap];0.91[CHD][hapmap];0.86[ASN][1000 genomes]
rs961320	0.83[EUR][1000 genomes]
rs9645813	0.87[EUR][1000 genomes]
rs9783452	0.80[ASW][hapmap];0.88[CEU][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.81[LWK][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9783477	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9796008	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
4	nsv558833	chr12:49358880-49478812	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4760662	ADCY6	cis	parietal	SCAN
rs4760662	CCDC65	cis	Esophagus Muscularis	GTEx
rs4760662	FKBP11	cis	parietal	SCAN
rs4760662	DDX23	cis	parietal	SCAN
rs4760662	FKBP11	cis	cerebellum	SCAN
rs4760662	C12orf54	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49366000-49371000	Weak transcription	Pancreas	Pancrea
2	chr12:49367600-49371200	Weak transcription	Spleen	Spleen
3	chr12:49367800-49371800	Weak transcription	Right Atrium	heart
4	chr12:49368600-49371400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:49368800-49371200	Weak transcription	K562	blood
6	chr12:49370400-49371200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:49370800-49371200	Enhancers	Osteobl	bone
8	chr12:49370800-49371400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:49370800-49371600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr12:49370800-49371600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr12:49370800-49371600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:49370800-49371800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:49370800-49372200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum

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