Variant report

Variant	rs3812795
Chromosome Location	chr12:105321734-105321735
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	chr12:105318476..105323326-chr12:105350867..105355215,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136052	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10161522	0.91[EUR][1000 genomes]
rs10507186	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10507187	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];1.00[ASN][1000 genomes]
rs10507188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112218	1.00[CEU][hapmap]
rs11112276	0.91[EUR][1000 genomes]
rs11112277	0.91[EUR][1000 genomes]
rs11112279	0.91[EUR][1000 genomes]
rs11112283	0.86[EUR][1000 genomes]
rs11112303	0.83[EUR][1000 genomes]
rs11112307	0.85[EUR][1000 genomes]
rs11112346	0.81[GIH][hapmap]
rs11503466	0.85[EUR][1000 genomes]
rs12296144	0.88[EUR][1000 genomes]
rs12299385	0.85[EUR][1000 genomes]
rs12299936	0.91[EUR][1000 genomes]
rs12300005	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[EUR][1000 genomes]
rs12301432	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[EUR][1000 genomes]
rs12301850	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs12306191	0.91[EUR][1000 genomes]
rs12306443	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[EUR][1000 genomes]
rs12306848	1.00[CEU][hapmap]
rs12308952	0.91[EUR][1000 genomes]
rs12309588	0.88[CHB][hapmap]
rs12310790	0.85[EUR][1000 genomes]
rs12313077	0.91[EUR][1000 genomes]
rs12314995	0.91[EUR][1000 genomes]
rs12315975	0.91[EUR][1000 genomes]
rs12315983	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs12316001	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs12319632	0.91[EUR][1000 genomes]
rs12320024	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[EUR][1000 genomes]
rs12320195	0.91[EUR][1000 genomes]
rs12320880	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs12321224	0.91[EUR][1000 genomes]
rs12321226	0.91[EUR][1000 genomes]
rs12321381	1.00[CEU][hapmap];0.88[GIH][hapmap];0.85[TSI][hapmap];0.91[EUR][1000 genomes]
rs17036439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17036463	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17036494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17036505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17036509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17036534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17036542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17036549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17036558	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17041531	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35879768	0.91[EUR][1000 genomes]
rs3816923	0.88[CHB][hapmap]
rs3935722	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4077312	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4268581	0.91[EUR][1000 genomes]
rs4357778	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4375513	1.00[CEU][hapmap]
rs4553438	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs58005679	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58115870	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58447363	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58483223	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60057011	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60096703	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60310033	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60809012	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60956548	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61638859	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7131977	1.00[CEU][hapmap];0.90[GIH][hapmap];0.83[EUR][1000 genomes]
rs7299019	1.00[CEU][hapmap];0.90[GIH][hapmap]
rs7303898	0.81[EUR][1000 genomes]
rs73383412	0.81[EUR][1000 genomes]
rs73387265	0.83[EUR][1000 genomes]
rs7960890	0.81[EUR][1000 genomes]
rs7960937	0.81[EUR][1000 genomes]
rs7970504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971575	0.88[CHB][hapmap]
rs7975754	0.81[EUR][1000 genomes]
rs7975836	0.81[EUR][1000 genomes]
rs9738733	0.83[EUR][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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105290800-105331600	Weak transcription	Gastric	stomach
2	chr12:105297400-105323600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:105297600-105323400	Weak transcription	Aorta	Aorta
4	chr12:105300400-105323200	Weak transcription	Pancreas	Pancrea
5	chr12:105304400-105324600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:105315600-105323400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:105315600-105323600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:105316200-105321800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:105316800-105322800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:105318600-105321800	Weak transcription	NHDF-Ad	bronchial
11	chr12:105319600-105322200	Strong transcription	Liver	Liver
12	chr12:105320200-105332200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr12:105320400-105321800	Weak transcription	GM12878-XiMat	blood
14	chr12:105320600-105324600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:105320800-105323200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:105321000-105323400	Weak transcription	HSMM	muscle
17	chr12:105321000-105324200	Weak transcription	HUVEC	blood vessel
18	chr12:105321200-105323600	Weak transcription	Osteobl	bone
19	chr12:105321600-105321800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:105321600-105322200	Strong transcription	A549	lung
21	chr12:105321600-105322400	Enhancers	HSMMtube	muscle

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