Variant report

Variant	rs71491237
Chromosome Location	chr10:38394187-38394188
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs11011445	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11011447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11011448	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11011454	1.00[EUR][1000 genomes]
rs11011455	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11011456	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11011457	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11011492	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11011493	1.00[AMR][1000 genomes]
rs12240841	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12243715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12244294	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12244439	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12244661	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12245632	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12245792	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12246341	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12246875	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12247832	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12248050	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12253640	1.00[EUR][1000 genomes]
rs12254726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12258247	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12258703	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12258848	0.84[AFR][1000 genomes]
rs12260759	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12260877	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12261570	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12266231	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12266460	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12268280	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12268465	1.00[ASN][1000 genomes]
rs12772607	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12775500	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12782054	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12784488	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16905726	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16937696	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16937701	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28448364	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28607758	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28719516	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34067956	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34522767	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34571803	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34579247	1.00[EUR][1000 genomes]
rs34759610	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34908048	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36010363	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36043070	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36091737	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36114117	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58217854	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7086341	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7095460	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7100316	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71491235	1.00[EUR][1000 genomes]
rs71491238	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71491239	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71491240	1.00[EUR][1000 genomes]
rs71491241	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs71491244	1.00[EUR][1000 genomes]
rs7895219	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7900878	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7901183	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895030	chr10:37715737-38674609	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1045684	chr10:37765361-38426204	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv540564	chr10:37765361-38426204	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1040704	chr10:37940024-38451917	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv1051121	chr10:38155991-38426204	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv540565	chr10:38155991-38426204	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv540566	chr10:38301001-38680127	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv550419	chr10:38311777-38501654	Enhancers Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv6465	chr10:38377662-38422125	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38384400-38396400	Weak transcription	HUVEC	blood vessel
2	chr10:38385400-38394400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:38385600-38396200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr10:38386000-38395200	Weak transcription	Hela-S3	cervix
5	chr10:38386200-38396000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
6	chr10:38386800-38395800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr10:38386800-38396200	ZNF genes & repeats	Fetal Brain Female	brain
8	chr10:38386800-38396200	ZNF genes & repeats	Fetal Lung	lung
9	chr10:38387600-38398800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr10:38387800-38396800	ZNF genes & repeats	Liver	Liver
11	chr10:38388200-38396200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr10:38388200-38399200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
13	chr10:38388600-38394800	Weak transcription	NHDF-Ad	bronchial
14	chr10:38388600-38397600	Weak transcription	NH-A	brain
15	chr10:38389200-38395800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
16	chr10:38389200-38396000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
17	chr10:38389600-38395800	ZNF genes & repeats	Dnd41	blood
18	chr10:38390000-38395800	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr10:38390600-38395600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
20	chr10:38390600-38396000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
21	chr10:38390800-38395600	ZNF genes & repeats	Colon Smooth Muscle	Colon
22	chr10:38391000-38395600	ZNF genes & repeats	A549	lung
23	chr10:38391000-38396000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr10:38391000-38396200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr10:38391200-38395000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr10:38391200-38395600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
27	chr10:38391200-38395600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
28	chr10:38391200-38396000	ZNF genes & repeats	Fetal Kidney	kidney
29	chr10:38391200-38396400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
30	chr10:38391600-38395600	ZNF genes & repeats	Fetal Brain Male	brain
31	chr10:38391600-38395800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr10:38391600-38396000	ZNF genes & repeats	Primary B cells from cord blood	blood
33	chr10:38391800-38394600	Weak transcription	Osteobl	bone
34	chr10:38391800-38395600	ZNF genes & repeats	Primary T cells from cord blood	blood
35	chr10:38392000-38394800	Weak transcription	HepG2	liver
36	chr10:38392200-38395600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr10:38392200-38395600	ZNF genes & repeats	Fetal Muscle Leg	muscle
38	chr10:38392400-38395600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
39	chr10:38392400-38395800	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr10:38392400-38396000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr10:38392600-38395600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
42	chr10:38392600-38395600	ZNF genes & repeats	Fetal Stomach	stomach
43	chr10:38392600-38395800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
44	chr10:38392600-38396000	ZNF genes & repeats	Ovary	ovary
45	chr10:38392600-38396200	ZNF genes & repeats	Brain Germinal Matrix	brain
46	chr10:38392800-38395200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
47	chr10:38392800-38395600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr10:38392800-38395600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
49	chr10:38392800-38395600	ZNF genes & repeats	Aorta	Aorta
50	chr10:38392800-38395600	ZNF genes & repeats	Lung	lung

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