Variant report

Variant	rs11196817
Chromosome Location	chr10:116391739-116391740
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	chr10:116391283..116394049-chr10:116397576..116399844,2	K562	blood:
2	chr10:116385913..116388731-chr10:116390266..116392434,3	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[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10885588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11196811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11196812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11196815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11196818	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11196820	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12161653	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];0.99[ASN][1000 genomes]
rs12571734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12572646	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12573191	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1333689	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	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2497681	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2497682	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116388200-116392600	Active TSS	Right Ventricle	heart
2	chr10:116389600-116392600	Active TSS	Right Atrium	heart
3	chr10:116390000-116392200	Active TSS	Fetal Heart	heart
4	chr10:116390200-116392400	Weak transcription	Hela-S3	cervix
5	chr10:116390600-116392200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr10:116390600-116392200	Flanking Active TSS	HMEC	breast
7	chr10:116390600-116392400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr10:116390600-116392400	Active TSS	HSMMtube	muscle
9	chr10:116390600-116392800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr10:116390800-116391800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr10:116390800-116391800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
12	chr10:116390800-116392200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr10:116390800-116392400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:116390800-116392400	Active TSS	Rectal Smooth Muscle	rectum
15	chr10:116390800-116392400	Flanking Active TSS	HUVEC	blood vessel
16	chr10:116390800-116392800	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr10:116391000-116391800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:116391000-116391800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr10:116391000-116391800	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
20	chr10:116391000-116391800	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
21	chr10:116391000-116391800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
22	chr10:116391000-116392000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr10:116391000-116392000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr10:116391000-116392000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
25	chr10:116391000-116392200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr10:116391000-116392200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr10:116391000-116392200	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr10:116391000-116392200	Active TSS	Pancreas	Pancrea
29	chr10:116391000-116392200	Flanking Active TSS	NHEK	skin
30	chr10:116391000-116392400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr10:116391000-116392400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
32	chr10:116391000-116392400	Bivalent/Poised TSS	Fetal Kidney	kidney
33	chr10:116391000-116392800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr10:116391000-116393000	Enhancers	Small Intestine	intestine
35	chr10:116391200-116391800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
36	chr10:116391200-116392000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr10:116391200-116392000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
38	chr10:116391200-116392000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr10:116391200-116392000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr10:116391200-116392000	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
41	chr10:116391200-116392200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
42	chr10:116391200-116392200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
43	chr10:116391200-116392200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
44	chr10:116391200-116392200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr10:116391200-116392200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
46	chr10:116391200-116392200	Active TSS	Liver	Liver
47	chr10:116391200-116392200	Active TSS	Lung	lung
48	chr10:116391200-116392200	Active TSS	NHLF	lung
49	chr10:116391200-116392400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr10:116391200-116392400	Active TSS	Aorta	Aorta

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