Variant report

Variant	rs11196812
Chromosome Location	chr10:116384223-116384224
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:116310031..116311847-chr10:116382346..116385171,2	MCF-7	breast:
2	chr10:116359202..116360862-chr10:116383817..116385485,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10885587	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10885588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10885591	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10885592	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10885593	0.85[AMR][1000 genomes]
rs11196805	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11196811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11196815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11196817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11196818	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11196820	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11196829	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11196831	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11196832	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11196833	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11196834	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11196836	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11196838	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11196839	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11196842	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11196846	0.85[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12161653	0.81[CHB][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12219039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12571734	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12572646	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12573191	0.87[CEU][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1333689	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs17092202	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17092207	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17092213	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17092218	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17092220	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2497668	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2497681	0.89[CEU][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2497682	0.87[CEU][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4447090	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037308	chr10:116141946-116519765	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv540780	chr10:116141946-116519765	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv949138	chr10:116311531-116874477	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1038050	chr10:116315109-116895719	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv533027	chr10:116344641-116856352	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116378200-116385000	Enhancers	Right Atrium	heart
2	chr10:116378800-116391200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:116381200-116385000	Enhancers	Left Ventricle	heart
4	chr10:116381400-116385200	Enhancers	Stomach Mucosa	stomach
5	chr10:116382000-116384400	Enhancers	Gastric	stomach
6	chr10:116382000-116385000	Weak transcription	Right Ventricle	heart
7	chr10:116382000-116385600	Enhancers	HepG2	liver
8	chr10:116382200-116384400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr10:116382200-116384400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr10:116382200-116384400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr10:116382200-116385000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr10:116382400-116384400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr10:116382400-116384400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr10:116382400-116384400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr10:116382400-116384400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr10:116382400-116384400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr10:116382400-116384400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr10:116382400-116384400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr10:116382400-116384400	Enhancers	Stomach Smooth Muscle	stomach
20	chr10:116382400-116384600	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr10:116382400-116385400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr10:116382400-116385600	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr10:116382400-116387400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr10:116382400-116387600	Enhancers	HMEC	breast
25	chr10:116382400-116387800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr10:116382400-116388000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr10:116382600-116384400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr10:116382600-116384400	Enhancers	Liver	Liver
29	chr10:116382600-116384400	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr10:116382600-116385000	Enhancers	HUVEC	blood vessel
31	chr10:116382600-116385200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr10:116382600-116385400	Enhancers	HSMMtube	muscle
33	chr10:116382600-116387200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr10:116382600-116387600	Enhancers	NHEK	skin
35	chr10:116382800-116384400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr10:116382800-116384400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr10:116382800-116385200	Enhancers	Osteobl	bone
38	chr10:116383000-116384400	Enhancers	H9 Cell Line	embryonic stem cell
39	chr10:116383000-116384400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr10:116383000-116384400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr10:116383000-116384400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr10:116383000-116384400	Enhancers	Rectal Smooth Muscle	rectum
43	chr10:116383000-116384400	Enhancers	NHLF	lung
44	chr10:116383000-116384600	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr10:116383000-116385200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr10:116383000-116385200	Enhancers	NHDF-Ad	bronchial
47	chr10:116383000-116385400	Enhancers	NH-A	brain
48	chr10:116383200-116384400	Flanking Active TSS	A549	lung
49	chr10:116383200-116391200	Weak transcription	Lung	lung
50	chr10:116383400-116385400	Enhancers	HSMM	muscle

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