Variant report

Variant	rs1523593
Chromosome Location	chr3:135758709-135758710
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:135621913..135623477-chr3:135758580..135760528,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs12630389	0.91[ASN][1000 genomes]
rs12632791	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12633805	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12637541	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13059064	0.87[ASN][1000 genomes]
rs13065499	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13069408	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13072433	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13072690	0.94[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs13072782	0.94[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs13075579	0.97[ASN][1000 genomes]
rs13078865	0.88[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs13084404	1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs13092707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13097172	0.94[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs13097176	0.82[ASN][1000 genomes]
rs13097267	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13100235	0.83[ASN][1000 genomes]
rs1523598	0.82[ASN][1000 genomes]
rs1523599	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1523600	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16843560	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16843611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2140450	0.94[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs2177407	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2400649	0.87[ASN][1000 genomes]
rs34447526	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34683314	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34706807	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35097316	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35209948	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35264626	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35532770	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35946332	0.87[ASN][1000 genomes]
rs35961065	0.91[ASN][1000 genomes]
rs3946444	0.94[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs4075999	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4331626	0.87[ASN][1000 genomes]
rs4678224	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4678288	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4678432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4678434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4678435	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55873361	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56152207	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57594457	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60070757	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61791712	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61791714	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6439603	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6439605	0.94[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs6439609	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6439610	0.94[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs6439614	0.86[ASN][1000 genomes]
rs6439615	0.87[ASN][1000 genomes]
rs6439618	0.87[ASN][1000 genomes]
rs6439622	0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6439623	0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6439624	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6770366	0.84[ASN][1000 genomes]
rs6771950	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6775261	0.87[ASN][1000 genomes]
rs6779903	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6793273	0.87[ASN][1000 genomes]
rs6803786	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6807242	0.89[YRI][hapmap]
rs7433592	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7610302	0.87[ASN][1000 genomes]
rs7625177	0.94[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs7625607	0.89[ASN][1000 genomes]
rs7635621	0.87[ASN][1000 genomes]
rs7650079	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9289501	0.85[ASN][1000 genomes]
rs9289503	0.89[YRI][hapmap]
rs940229	0.94[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs9682712	0.94[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs9758578	0.96[ASN][1000 genomes]
rs9846554	0.94[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs9852009	0.94[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs9852169	0.94[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs9856799	0.94[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs9866235	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs9868239	0.94[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460860	chr3:135107678-135769006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv591829	chr3:135107678-135769006	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv869409	chr3:135649101-136164174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135721800-135763600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr3:135727400-135760600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr3:135727800-135769400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:135735800-135760600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr3:135738000-135761200	Weak transcription	Fetal Brain Male	brain
6	chr3:135738000-135775800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:135738400-135763600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr3:135738400-135763600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr3:135739800-135767800	Weak transcription	NHDF-Ad	bronchial
10	chr3:135741000-135763600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr3:135741800-135759800	Weak transcription	Placenta	Placenta
12	chr3:135742000-135763200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:135742000-135763600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:135742200-135763600	Weak transcription	Fetal Intestine Small	intestine
15	chr3:135742200-135763600	Weak transcription	NHEK	skin
16	chr3:135742800-135774200	Weak transcription	HMEC	breast
17	chr3:135744200-135763600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr3:135746200-135790000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:135746400-135763600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr3:135746600-135761000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:135747600-135760600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr3:135747800-135763600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr3:135748400-135762400	Weak transcription	Brain Hippocampus Middle	brain
24	chr3:135748400-135763000	Weak transcription	NH-A	brain
25	chr3:135748400-135763200	Weak transcription	Fetal Intestine Large	intestine
26	chr3:135748400-135763200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr3:135748400-135763400	Weak transcription	HSMMtube	muscle
28	chr3:135748400-135763600	Weak transcription	Colonic Mucosa	Colon
29	chr3:135748400-135763800	Weak transcription	NHLF	lung
30	chr3:135748600-135763000	Weak transcription	Colon Smooth Muscle	Colon
31	chr3:135748600-135763200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr3:135748600-135763200	Weak transcription	Esophagus	oesophagus
33	chr3:135748800-135760200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr3:135749000-135759600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr3:135749000-135763200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr3:135749000-135763600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr3:135749000-135763600	Weak transcription	Pancreas	Pancrea
38	chr3:135749400-135763000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:135749800-135760200	Weak transcription	Ovary	ovary
40	chr3:135750200-135763600	Weak transcription	Fetal Lung	lung
41	chr3:135750400-135760800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:135750400-135772800	Weak transcription	Brain Substantia Nigra	brain
43	chr3:135750800-135775800	Weak transcription	Liver	Liver
44	chr3:135751000-135760800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:135751200-135763200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr3:135753200-135760200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr3:135753200-135764400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr3:135753800-135763200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr3:135753800-135764400	Weak transcription	Fetal Kidney	kidney
50	chr3:135754400-135763200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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