Variant report

Variant	rs10513865
Chromosome Location	chr3:191088885-191088886
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10804934	1.00[ASW][hapmap]
rs1369278	0.87[CEU][hapmap];0.89[CHB][hapmap];0.85[CHD][hapmap];0.81[GIH][hapmap];0.81[ASN][1000 genomes]
rs1369279	0.87[CEU][hapmap];0.89[CHB][hapmap];0.81[ASN][1000 genomes]
rs1474188	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16822368	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16822380	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16822451	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16822489	0.87[CEU][hapmap]
rs16848976	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16866501	0.87[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16866503	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16866506	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1715641	0.83[CHB][hapmap]
rs2117548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs293810	0.83[CHD][hapmap]
rs293840	0.84[CHD][hapmap]
rs420266	0.84[CHD][hapmap]
rs4247189	0.81[ASN][1000 genomes]
rs4247190	0.89[CHB][hapmap];0.85[CHD][hapmap];0.81[ASN][1000 genomes]
rs436393	0.81[CHB][hapmap];0.84[CHD][hapmap]
rs438589	0.84[CHD][hapmap]
rs4677633	0.96[ASN][1000 genomes]
rs4677724	0.84[AMR][1000 genomes]
rs4677731	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57369465	0.81[ASN][1000 genomes]
rs57831251	0.81[ASN][1000 genomes]
rs58077600	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs58596458	0.81[ASN][1000 genomes]
rs58631024	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58648691	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59491001	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60089463	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60176909	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60204557	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9812544	0.97[ASN][1000 genomes]
rs9832656	0.95[ASN][1000 genomes]
rs9838800	0.95[ASN][1000 genomes]
rs9844500	0.95[ASN][1000 genomes]
rs9854318	0.95[ASN][1000 genomes]
rs9854581	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428100	chr3:190793797-191092633	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv931943	chr3:190860224-191321873	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2757910	chr3:190867011-191279107	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2759209	chr3:190867011-191279107	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv428428	chr3:190936834-191215596	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv998208	chr3:191021434-191175350	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv534269	chr3:191037181-191261730	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv878107	chr3:191069984-191100073	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv592852	chr3:191073228-191093310	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv592853	chr3:191073228-191094985	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191069800-191096000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr3:191071200-191114000	Weak transcription	Colonic Mucosa	Colon
3	chr3:191071400-191094200	Weak transcription	Small Intestine	intestine
4	chr3:191071400-191097400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:191071400-191100000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:191072600-191100800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr3:191073600-191090000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:191074600-191092800	Weak transcription	Esophagus	oesophagus
9	chr3:191074600-191094000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr3:191074800-191094200	Weak transcription	A549	lung
11	chr3:191075000-191097400	Weak transcription	Thymus	Thymus
12	chr3:191076000-191092800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:191076200-191091000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:191077600-191094200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr3:191078000-191089200	Strong transcription	Primary B cells from peripheral blood	blood
16	chr3:191079400-191093000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr3:191079400-191094200	Weak transcription	Brain Anterior Caudate	brain
18	chr3:191079400-191094800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:191079400-191115800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:191079600-191089800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:191079600-191089800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:191079600-191092600	Weak transcription	Primary T cells from cord blood	blood
23	chr3:191079600-191099200	Weak transcription	Spleen	Spleen
24	chr3:191079600-191116400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:191079600-191121200	Weak transcription	Gastric	stomach
26	chr3:191079800-191094200	Weak transcription	Brain Substantia Nigra	brain
27	chr3:191080200-191094600	Weak transcription	Stomach Mucosa	stomach
28	chr3:191080200-191110200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr3:191080200-191118800	Weak transcription	Pancreas	Pancrea
30	chr3:191080400-191092800	Weak transcription	Fetal Intestine Small	intestine
31	chr3:191080600-191092800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr3:191080600-191094200	Weak transcription	Right Ventricle	heart
33	chr3:191080600-191094400	Weak transcription	Brain Angular Gyrus	brain
34	chr3:191080600-191110400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr3:191081600-191094200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr3:191081800-191090200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:191081800-191092800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr3:191082200-191092800	Weak transcription	Aorta	Aorta
39	chr3:191082400-191092800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr3:191082800-191090400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:191083000-191094800	Strong transcription	Liver	Liver
42	chr3:191083400-191092800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr3:191084000-191089200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr3:191084200-191094200	Weak transcription	Colon Smooth Muscle	Colon
45	chr3:191084400-191090400	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr3:191084600-191089600	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr3:191085000-191089800	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr3:191085000-191092600	Weak transcription	NHLF	lung
49	chr3:191085000-191096000	Weak transcription	K562	blood
50	chr3:191085800-191093800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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