Variant report

Variant	rs10876208
Chromosome Location	chr12:39287667-39287668
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10161183	0.87[ASN][1000 genomes]
rs10444553	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169518	0.87[ASN][1000 genomes]
rs11169519	0.86[ASN][1000 genomes]
rs11169535	0.84[ASN][1000 genomes]
rs11169616	0.88[ASN][1000 genomes]
rs11169760	0.85[ASN][1000 genomes]
rs11169768	0.86[ASN][1000 genomes]
rs11169807	0.82[EUR][1000 genomes]
rs1400280	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1400285	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1403521	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1516558	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1523118	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1523121	0.85[ASN][1000 genomes]
rs1586373	0.87[ASN][1000 genomes]
rs2138543	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2388172	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34246358	0.82[ASN][1000 genomes]
rs35749392	0.86[ASN][1000 genomes]
rs3803020	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3887436	0.87[ASN][1000 genomes]
rs4384412	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4595586	0.90[ASN][1000 genomes]
rs4768388	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56149694	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56344858	0.83[ASN][1000 genomes]
rs6580849	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7314227	0.93[ASN][1000 genomes]
rs7962363	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7970097	0.93[AMR][1000 genomes];0.94[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	nsv1047623	chr12:39187817-39539939	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv3389115	chr12:39221256-39448458	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv899009	chr12:39284077-39441096	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39271800-39297200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:39284200-39289600	Weak transcription	Adipose Nuclei	Adipose
3	chr12:39284600-39289200	Weak transcription	HUVEC	blood vessel
4	chr12:39284800-39288800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:39285000-39291800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:39285000-39296400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr12:39285600-39288000	Enhancers	Fetal Intestine Small	intestine
8	chr12:39285800-39288000	Enhancers	Stomach Mucosa	stomach
9	chr12:39285800-39288600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:39286000-39294600	Weak transcription	Lung	lung
11	chr12:39286200-39291800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:39286200-39291800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:39286200-39291800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:39286400-39288200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr12:39286400-39289400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:39286400-39290000	Weak transcription	NHEK	skin
17	chr12:39286400-39290200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:39286400-39290200	Weak transcription	Right Atrium	heart
19	chr12:39286400-39290200	Weak transcription	HMEC	breast
20	chr12:39286400-39293600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr12:39286600-39288000	Enhancers	Liver	Liver
22	chr12:39286600-39288600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:39286600-39290400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr12:39286600-39297400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr12:39287000-39288200	Weak transcription	GM12878-XiMat	blood
26	chr12:39287200-39290000	Weak transcription	Colon Smooth Muscle	Colon
27	chr12:39287200-39291800	Weak transcription	A549	lung
28	chr12:39287400-39288400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:39287400-39290000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr12:39287400-39290400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr12:39287400-39291600	Weak transcription	Placenta	Placenta
32	chr12:39287400-39291800	Weak transcription	Hela-S3	cervix
33	chr12:39287400-39296400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:39287400-39298600	Weak transcription	Aorta	Aorta

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