Variant report

Variant	rs7974633
Chromosome Location	chr12:64416284-64416285
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10784376	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10784377	0.91[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10878099	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11175237	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11836824	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12367875	0.89[CEU][hapmap];0.81[CHB][hapmap];0.89[EUR][1000 genomes]
rs17710730	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2335389	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35136111	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35266586	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3930087	0.85[CEU][hapmap];0.81[CHB][hapmap];0.82[GIH][hapmap];0.83[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6421210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581518	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6581520	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6581521	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6581522	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581523	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581524	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581526	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581527	0.92[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581528	0.96[ASN][1000 genomes]
rs7295635	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297628	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7299597	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308431	0.92[CEU][hapmap];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7311377	0.85[CEU][hapmap];0.81[CHB][hapmap];0.82[GIH][hapmap];0.81[TSI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7312152	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7312345	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7316077	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7958660	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7967578	0.85[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7970430	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971280	0.88[CEU][hapmap];0.81[CHB][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7978183	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978207	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832442	chr12:64228071-64442771	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv747	chr12:64391572-64423998	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64380200-64433000	Weak transcription	Fetal Intestine Large	intestine
2	chr12:64382800-64432800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:64383800-64425400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:64385000-64425600	Weak transcription	Left Ventricle	heart
5	chr12:64388800-64429800	Weak transcription	Pancreas	Pancrea
6	chr12:64389400-64419200	Weak transcription	Fetal Kidney	kidney
7	chr12:64389400-64419200	Weak transcription	Fetal Lung	lung
8	chr12:64389600-64417400	Weak transcription	Fetal Muscle Leg	muscle
9	chr12:64398000-64425200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:64400400-64418400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:64402200-64419200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:64404400-64417400	Weak transcription	HSMMtube	muscle
13	chr12:64404600-64420800	Weak transcription	NHDF-Ad	bronchial
14	chr12:64404600-64421200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:64404600-64422400	Weak transcription	NH-A	brain
16	chr12:64405000-64417200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:64405000-64421000	Weak transcription	NHLF	lung
18	chr12:64407000-64420600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:64408200-64422400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:64408800-64421000	Weak transcription	Adipose Nuclei	Adipose
21	chr12:64409200-64418400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:64409400-64422000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr12:64409400-64429600	Weak transcription	Hela-S3	cervix
24	chr12:64409600-64422400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:64409800-64418200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:64410000-64428600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr12:64411000-64421000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:64411400-64422200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:64411400-64425600	Weak transcription	Fetal Intestine Small	intestine
30	chr12:64412000-64423800	Weak transcription	Aorta	Aorta
31	chr12:64412400-64418000	Strong transcription	HSMM	muscle
32	chr12:64413200-64417200	Weak transcription	Osteobl	bone
33	chr12:64413200-64418800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:64413400-64418800	Weak transcription	HMEC	breast
35	chr12:64413800-64422400	Weak transcription	NHEK	skin
36	chr12:64415000-64417200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr12:64415000-64432400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr12:64415200-64416600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:64415200-64416600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:64415200-64418400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr12:64415200-64419600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:64415200-64420200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr12:64415400-64416400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:64415400-64422600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr12:64415600-64416400	Strong transcription	A549	lung
46	chr12:64415600-64416600	Strong transcription	Fetal Brain Female	brain
47	chr12:64415800-64418600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:64415800-64426000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr12:64416000-64416400	Strong transcription	Ovary	ovary
50	chr12:64416000-64420800	Weak transcription	Brain Anterior Caudate	brain

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