Variant report

Variant	rs12411517
Chromosome Location	chr10:94325144-94325145
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:94323647..94325408-chr10:94326611..94328979,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10882066	0.90[ASN][1000 genomes]
rs10882069	0.87[ASN][1000 genomes]
rs10882070	0.83[ASN][1000 genomes]
rs10882078	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10882086	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10882088	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10882093	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11186999	0.90[ASN][1000 genomes]
rs11187013	0.89[ASN][1000 genomes]
rs11187018	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11187034	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11187037	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11187077	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11187079	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11187092	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11187108	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11187115	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11595187	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12218324	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12218329	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12411873	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12414433	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12415807	0.90[ASN][1000 genomes]
rs12416180	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17107734	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1999763	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1999764	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2275219	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2297743	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2421940	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35118791	0.84[ASN][1000 genomes]
rs3758503	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3758505	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4646954	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4646958	0.84[ASN][1000 genomes]
rs4933232	0.90[ASN][1000 genomes]
rs4933728	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4933731	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4933732	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57936176	0.84[ASN][1000 genomes]
rs59415214	0.80[ASN][1000 genomes]
rs6583820	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7068118	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7068618	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7075073	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7075851	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7079099	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7087153	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7089987	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7093437	0.90[ASN][1000 genomes]
rs74151674	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7895832	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7898114	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7898862	0.90[ASN][1000 genomes]
rs7900584	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7916460	0.84[ASN][1000 genomes]
rs7916594	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046258	chr10:93866969-94466106	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	esv1792868	chr10:94232247-94409749	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv895894	chr10:94249982-94452430	Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv895895	chr10:94304132-94372706	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94267800-94328800	Weak transcription	Fetal Heart	heart
2	chr10:94272200-94332000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr10:94272200-94332200	Weak transcription	Gastric	stomach
4	chr10:94277200-94331200	Weak transcription	Stomach Mucosa	stomach
5	chr10:94277800-94332200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr10:94304600-94331400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr10:94313800-94327000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr10:94314200-94325800	Weak transcription	Pancreas	Pancrea
9	chr10:94314200-94326800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr10:94314200-94327200	Weak transcription	Brain Anterior Caudate	brain
11	chr10:94314200-94328800	Weak transcription	NHLF	lung
12	chr10:94314200-94331000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr10:94314200-94331200	Weak transcription	Brain Substantia Nigra	brain
14	chr10:94314200-94331200	Weak transcription	Small Intestine	intestine
15	chr10:94314200-94331400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr10:94314200-94331400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr10:94314200-94331600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr10:94314200-94332000	Weak transcription	Colonic Mucosa	Colon
19	chr10:94314400-94327800	Weak transcription	NHDF-Ad	bronchial
20	chr10:94314400-94331000	Weak transcription	Psoas Muscle	Psoas
21	chr10:94314400-94331200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr10:94314400-94331600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr10:94314400-94332200	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr10:94314400-94332400	Weak transcription	Aorta	Aorta
25	chr10:94314400-94332400	Weak transcription	Lung	lung
26	chr10:94314600-94331200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr10:94315000-94331200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr10:94315200-94331200	Weak transcription	Brain Angular Gyrus	brain
29	chr10:94315600-94327600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr10:94315600-94327600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr10:94316000-94327000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr10:94316600-94331400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr10:94317200-94325600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr10:94317400-94331200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr10:94317600-94332200	Weak transcription	Fetal Thymus	thymus
36	chr10:94318000-94331200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr10:94318000-94332000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr10:94319000-94331200	Weak transcription	Right Ventricle	heart
39	chr10:94319200-94325600	Weak transcription	NHEK	skin
40	chr10:94319200-94327600	Weak transcription	Osteobl	bone
41	chr10:94319400-94327600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr10:94319400-94327600	Weak transcription	NH-A	brain
43	chr10:94319400-94331600	Weak transcription	HSMMtube	muscle
44	chr10:94319400-94332200	Weak transcription	Fetal Kidney	kidney
45	chr10:94319600-94331200	Weak transcription	Fetal Lung	lung
46	chr10:94319800-94332000	Weak transcription	Brain Germinal Matrix	brain
47	chr10:94320200-94325200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr10:94320200-94326800	Weak transcription	Left Ventricle	heart
49	chr10:94320200-94327200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr10:94320200-94330200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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