Variant report

Variant	rs256656
Chromosome Location	chr12:30952800-30952801
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs166276	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs166277	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs171760	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs187673	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2352525	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs256655	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs256657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256662	0.96[ASN][1000 genomes]
rs256663	0.96[ASN][1000 genomes]
rs256665	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs256666	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs256667	0.96[ASN][1000 genomes]
rs256669	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs256670	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs256671	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs256672	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs256673	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs256674	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs256675	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs256676	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs256677	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs256679	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256680	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256681	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs256682	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs256683	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs256684	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs256685	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs256687	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs256689	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs256690	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs256692	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs256693	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs256694	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs256695	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs256696	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs256697	0.96[ASN][1000 genomes]
rs256698	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs256699	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs538731	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv34091	chr12:30927650-31061815	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv1052957	chr12:30951520-31191197	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv541439	chr12:30951520-31191197	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv1052869	chr12:30951520-31399162	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30950200-30954600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:30950200-30956400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:30950200-30956600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:30950200-30960200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:30950200-30960200	Weak transcription	Pancreas	Pancrea
6	chr12:30950400-30952800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:30950400-30952800	Weak transcription	A549	lung
8	chr12:30950400-30953000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:30950400-30953000	Weak transcription	HMEC	breast
10	chr12:30950400-30954600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:30950400-30954600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:30950400-30957000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:30950400-30957200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:30950400-30960000	Weak transcription	HUVEC	blood vessel
15	chr12:30950400-30960200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:30950400-30960200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:30950400-30960200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:30950800-30954600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr12:30950800-30955800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr12:30950800-30957000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:30950800-30957000	Weak transcription	NHEK	skin
22	chr12:30950800-30960200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:30951000-30956400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:30951000-30956600	Strong transcription	NH-A	brain
25	chr12:30951200-30953800	Strong transcription	Hela-S3	cervix
26	chr12:30951200-30957000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr12:30951400-30955200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:30951400-30956400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:30951600-30958200	Weak transcription	HSMM	muscle
30	chr12:30951800-30952800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr12:30951800-30953800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
32	chr12:30951800-30955200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:30952000-30953000	Weak transcription	Osteobl	bone
34	chr12:30952200-30952800	Enhancers	HepG2	liver
35	chr12:30952400-30956600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:30952400-30956600	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr12:30952600-30954000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
38	chr12:30952600-30955600	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr12:30952800-30953600	Strong transcription	A549	lung
40	chr12:30952800-30954000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:30952800-30955800	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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