Variant report

Variant	rs17363630
Chromosome Location	chr10:43668186-43668187
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10159558	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11238441	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11238465	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12258585	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12260994	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12262152	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12765436	0.93[ASN][1000 genomes]
rs12765715	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12765838	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12766298	0.93[ASN][1000 genomes]
rs12775330	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12775743	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12779732	0.93[ASN][1000 genomes]
rs1799939	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1800863	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1864393	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1879299	0.82[AMR][1000 genomes]
rs2075911	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28401552	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2900627	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3026776	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3026779	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3026781	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3026782	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34817887	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4987091	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7074319	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7086299	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7092548	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7096367	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71505665	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71505667	0.93[ASN][1000 genomes]
rs71505668	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72783237	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72783242	0.93[ASN][1000 genomes]
rs7893332	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7903283	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7910648	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7910805	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7921281	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7923256	0.88[AMR][1000 genomes]
rs9804209	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv895082	chr10:43530071-43755506	Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS 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	12 gene(s)	inside rSNPs	diseases
4	nsv895083	chr10:43549708-43765485	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv916378	chr10:43622151-43868356	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1042310	chr10:43623060-43688505	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv1043661	chr10:43626619-43890162	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv540574	chr10:43626619-43890162	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43635600-43689000	Weak transcription	Esophagus	oesophagus
2	chr10:43651000-43671800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr10:43652400-43668600	Weak transcription	Fetal Heart	heart
4	chr10:43652600-43669800	Weak transcription	Right Ventricle	heart
5	chr10:43652600-43697200	Weak transcription	Pancreas	Pancrea
6	chr10:43654600-43678000	Weak transcription	Hela-S3	cervix
7	chr10:43655000-43680600	Weak transcription	Colonic Mucosa	Colon
8	chr10:43655800-43673000	Weak transcription	Fetal Kidney	kidney
9	chr10:43656000-43674800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr10:43656400-43673400	Weak transcription	Psoas Muscle	Psoas
11	chr10:43658000-43669600	Weak transcription	Liver	Liver
12	chr10:43658200-43670600	Weak transcription	Gastric	stomach
13	chr10:43658400-43669600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr10:43658600-43671800	Weak transcription	Placenta	Placenta
15	chr10:43658800-43690600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr10:43659000-43670200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr10:43659000-43671800	Weak transcription	Fetal Intestine Large	intestine
18	chr10:43659000-43672600	Weak transcription	Colon Smooth Muscle	Colon
19	chr10:43659200-43671400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr10:43659400-43669800	Weak transcription	Fetal Brain Female	brain
21	chr10:43659800-43669000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr10:43659800-43674800	Weak transcription	A549	lung
23	chr10:43660000-43671800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr10:43660000-43673000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr10:43660400-43668200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr10:43660400-43687400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr10:43662000-43671800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr10:43662000-43677000	Strong transcription	Osteobl	bone
29	chr10:43662200-43684400	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr10:43662200-43697600	Weak transcription	NHEK	skin
31	chr10:43662600-43668600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr10:43662600-43670600	Weak transcription	HUVEC	blood vessel
33	chr10:43662600-43690000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr10:43662800-43668600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr10:43662800-43681600	Weak transcription	HMEC	breast
36	chr10:43663000-43678000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr10:43663600-43679800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr10:43663600-43683800	Strong transcription	Fetal Thymus	thymus
39	chr10:43663800-43673000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr10:43663800-43673200	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr10:43664000-43673000	Strong transcription	Primary T cells from cord blood	blood
42	chr10:43664000-43673200	Strong transcription	Primary hematopoietic stem cells	blood
43	chr10:43664000-43679600	Strong transcription	Fetal Muscle Trunk	muscle
44	chr10:43664000-43680400	Strong transcription	Dnd41	blood
45	chr10:43664200-43672400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr10:43664200-43673200	Strong transcription	Primary B cells from peripheral blood	blood
47	chr10:43664200-43676800	Strong transcription	HSMMtube	muscle
48	chr10:43664400-43668600	Strong transcription	Fetal Lung	lung
49	chr10:43664400-43675600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr10:43664600-43670800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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