Variant report

Variant	rs688608
Chromosome Location	chr10:38331624-38331625
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs1007133	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10764149	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10827844	0.93[ASN][1000 genomes]
rs11011384	0.83[ASN][1000 genomes]
rs11011401	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11011405	0.93[ASN][1000 genomes]
rs11011426	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11011431	1.00[ASN][1000 genomes]
rs1148287	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11594000	1.00[ASN][1000 genomes]
rs11598044	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1208555	0.84[EUR][1000 genomes]
rs1208556	0.84[EUR][1000 genomes]
rs1208560	0.84[EUR][1000 genomes]
rs1208573	0.84[EUR][1000 genomes]
rs1208587	0.89[CEU][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes]
rs1208591	0.84[EUR][1000 genomes]
rs1208601	0.81[EUR][1000 genomes]
rs1208633	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1208645	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1208658	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1212617	0.84[EUR][1000 genomes]
rs12357256	0.88[ASN][1000 genomes]
rs12571785	0.93[ASN][1000 genomes]
rs12768276	1.00[ASN][1000 genomes]
rs1322319	0.83[ASN][1000 genomes]
rs1735621	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1735629	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1735641	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1779068	0.84[EUR][1000 genomes]
rs1779075	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2092993	0.93[ASN][1000 genomes]
rs2092995	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2103936	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2142346	0.95[ASN][1000 genomes]
rs2144845	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2144848	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2245081	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2295872	0.83[ASN][1000 genomes]
rs2472149	0.84[EUR][1000 genomes]
rs2474548	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2474549	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2474606	1.00[CHB][hapmap]
rs2505220	0.84[EUR][1000 genomes]
rs2505233	0.94[CEU][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2505255	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2738185	0.84[EUR][1000 genomes]
rs2738186	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2738187	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2738190	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs2738191	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2738193	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2738207	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2738208	0.94[CEU][hapmap];0.90[JPT][hapmap];0.91[EUR][1000 genomes]
rs2738209	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2738210	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2738219	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2738222	0.93[ASN][1000 genomes]
rs2749559	0.93[ASN][1000 genomes]
rs2749563	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2749569	0.89[ASN][1000 genomes]
rs2749575	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs2749577	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2749586	0.83[EUR][1000 genomes]
rs2749587	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2749588	0.88[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2749589	0.89[CEU][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2749593	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2753878	0.93[ASN][1000 genomes]
rs2753879	0.93[ASN][1000 genomes]
rs2753880	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2753882	0.93[ASN][1000 genomes]
rs2799495	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2799496	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2799499	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2799501	0.90[ASN][1000 genomes]
rs2799505	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2799506	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2799507	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2799509	0.93[ASN][1000 genomes]
rs594594	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs596118	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs598857	0.91[EUR][1000 genomes]
rs615718	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs615974	0.83[ASN][1000 genomes]
rs61857002	0.93[ASN][1000 genomes]
rs61858886	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs622383	0.80[AMR][1000 genomes]
rs624359	0.94[CEU][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs628330	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs633029	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs633400	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs637255	0.95[CEU][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs647617	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs650873	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs656126	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs658161	0.88[EUR][1000 genomes]
rs662928	0.95[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.89[EUR][1000 genomes]
rs675628	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9417268	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9417282	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs9417283	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9418297	0.83[ASN][1000 genomes]
rs9418298	0.83[ASN][1000 genomes]
rs9418299	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895030	chr10:37715737-38674609	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1045684	chr10:37765361-38426204	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv540564	chr10:37765361-38426204	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1040704	chr10:37940024-38451917	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv1051121	chr10:38155991-38426204	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv540565	chr10:38155991-38426204	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv534122	chr10:38240258-38356008	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv540566	chr10:38301001-38680127	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv550419	chr10:38311777-38501654	Enhancers Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38300600-38336000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:38300600-38339400	Weak transcription	Psoas Muscle	Psoas
3	chr10:38300800-38339200	Weak transcription	HSMMtube	muscle
4	chr10:38301800-38344400	Weak transcription	Hela-S3	cervix
5	chr10:38307600-38346600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr10:38307800-38336200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr10:38307800-38336600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr10:38307800-38343600	Weak transcription	Small Intestine	intestine
9	chr10:38307800-38344000	Weak transcription	Stomach Mucosa	stomach
10	chr10:38308000-38342200	Weak transcription	Brain Angular Gyrus	brain
11	chr10:38309000-38339200	Weak transcription	HUVEC	blood vessel
12	chr10:38309000-38342200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr10:38309800-38344200	Weak transcription	NH-A	brain
14	chr10:38314600-38342800	Weak transcription	Brain Substantia Nigra	brain
15	chr10:38315000-38333800	Weak transcription	Esophagus	oesophagus
16	chr10:38315000-38342800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr10:38316000-38339800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr10:38316000-38342600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr10:38316600-38334000	Weak transcription	K562	blood
20	chr10:38316600-38343600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr10:38316800-38336000	Weak transcription	Colonic Mucosa	Colon
22	chr10:38316800-38339200	Weak transcription	HSMM	muscle
23	chr10:38318800-38339200	Weak transcription	Left Ventricle	heart
24	chr10:38322000-38333200	Weak transcription	Pancreas	Pancrea
25	chr10:38322000-38339400	Weak transcription	Spleen	Spleen
26	chr10:38322000-38342000	Weak transcription	Gastric	stomach
27	chr10:38322000-38342600	Weak transcription	Right Ventricle	heart
28	chr10:38322400-38342800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr10:38323000-38333600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr10:38323800-38342000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr10:38323800-38343000	Weak transcription	Brain Hippocampus Middle	brain
32	chr10:38324000-38342000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr10:38324400-38335400	Weak transcription	NHEK	skin
34	chr10:38324600-38342000	Weak transcription	Fetal Brain Male	brain
35	chr10:38324600-38343800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr10:38325200-38332600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr10:38325200-38333800	Weak transcription	Placenta	Placenta
38	chr10:38325200-38334000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr10:38325200-38339600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr10:38325200-38342000	Weak transcription	HMEC	breast
41	chr10:38325200-38344000	Weak transcription	Osteobl	bone
42	chr10:38325400-38333600	Weak transcription	Thymus	Thymus
43	chr10:38325400-38342200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr10:38325600-38332200	Weak transcription	Brain Germinal Matrix	brain
45	chr10:38325600-38342000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr10:38325800-38332800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr10:38325800-38343200	Weak transcription	Brain Anterior Caudate	brain
48	chr10:38326000-38342800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr10:38326400-38332600	Weak transcription	A549	lung
50	chr10:38326400-38334800	Weak transcription	Fetal Brain Female	brain

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