Variant report

Variant	rs2870807
Chromosome Location	chr12:68335802-68335803
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10492202	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10878704	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11176947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11176950	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11176951	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11176955	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11176956	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11176960	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11176962	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11176964	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12582501	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104563	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4913265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4913372	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4913373	0.98[ASN][1000 genomes]
rs4913375	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4913377	1.00[ASN][1000 genomes]
rs58642438	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60650476	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7311747	1.00[ASN][1000 genomes]
rs7311772	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs73322794	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73324809	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7954639	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7972825	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9888334	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1039638	chr12:68293351-68399871	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv899219	chr12:68293419-68353649	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1047675	chr12:68303674-68337325	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68333200-68337800	Enhancers	Fetal Heart	heart
2	chr12:68333400-68337400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:68333600-68336200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:68333600-68336600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr12:68334200-68337000	Enhancers	Stomach Mucosa	stomach
6	chr12:68334400-68336800	Enhancers	Psoas Muscle	Psoas
7	chr12:68334400-68337200	Enhancers	Fetal Intestine Large	intestine
8	chr12:68334400-68337800	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr12:68334600-68337200	Enhancers	Fetal Intestine Small	intestine
10	chr12:68334600-68337200	Enhancers	Fetal Lung	lung
11	chr12:68334600-68339000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr12:68334800-68336400	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:68335000-68336200	Weak transcription	Brain Hippocampus Middle	brain
14	chr12:68335000-68336400	Weak transcription	Brain Substantia Nigra	brain
15	chr12:68335000-68336400	Weak transcription	NHDF-Ad	bronchial
16	chr12:68335000-68336800	Weak transcription	Brain Angular Gyrus	brain
17	chr12:68335000-68336800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr12:68335000-68337000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:68335000-68338400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr12:68335200-68336200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:68335200-68336400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:68335200-68336400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:68335200-68336600	Weak transcription	Fetal Stomach	stomach
24	chr12:68335200-68336600	Weak transcription	Osteobl	bone
25	chr12:68335200-68337800	Enhancers	HSMMtube	muscle
26	chr12:68335400-68336200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:68335400-68336600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:68335400-68336600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:68335400-68336600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr12:68335400-68336600	Weak transcription	Fetal Muscle Leg	muscle
31	chr12:68335600-68336000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:68335600-68336000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:68335600-68336000	Weak transcription	HSMM	muscle
34	chr12:68335600-68336400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr12:68335600-68336600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr12:68335800-68336600	Weak transcription	Brain Anterior Caudate	brain

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