Variant report

Variant	rs1996185
Chromosome Location	chr10:50223614-50223615
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50217414..50220289-chr10:50222557..50225109,2	K562	blood:
2	chr10:50221492..50223848-chr10:50223986..50225496,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VSTM4-2	chr10:50222412-50224993	NONHSAT013287

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1055583	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1125517	0.84[CEU][hapmap];0.93[EUR][1000 genomes]
rs12763621	0.97[EUR][1000 genomes]
rs12763646	0.89[EUR][1000 genomes]
rs12764062	0.92[CEU][hapmap];0.94[EUR][1000 genomes]
rs12764806	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs12765128	0.80[EUR][1000 genomes]
rs12765141	0.93[EUR][1000 genomes]
rs12767010	0.94[EUR][1000 genomes]
rs12768497	0.92[CEU][hapmap];0.94[EUR][1000 genomes]
rs12769016	0.94[EUR][1000 genomes]
rs12770882	0.94[EUR][1000 genomes]
rs12774742	0.81[EUR][1000 genomes]
rs12775861	0.97[EUR][1000 genomes]
rs12775969	0.97[EUR][1000 genomes]
rs12779947	0.99[EUR][1000 genomes]
rs12782892	0.93[EUR][1000 genomes]
rs17773323	0.93[EUR][1000 genomes]
rs1877798	0.97[EUR][1000 genomes]
rs1877804	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1877805	1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[YRI][hapmap];0.96[ASN][1000 genomes]
rs1877806	0.94[EUR][1000 genomes]
rs1913518	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1913519	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1913521	0.95[CHB][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2102686	0.92[CEU][hapmap];0.94[EUR][1000 genomes]
rs2137920	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2175916	1.00[EUR][1000 genomes]
rs2175917	1.00[EUR][1000 genomes]
rs2175918	0.89[CHB][hapmap]
rs2243994	1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2244575	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.97[ASN][1000 genomes]
rs2244967	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2245145	0.95[ASN][1000 genomes]
rs2245147	0.95[ASN][1000 genomes]
rs2245149	0.95[ASN][1000 genomes]
rs2245162	0.95[ASN][1000 genomes]
rs2245165	0.92[ASN][1000 genomes]
rs2253873	0.95[CHB][hapmap];0.94[JPT][hapmap];0.84[YRI][hapmap];0.96[ASN][1000 genomes]
rs2254384	0.95[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs2254393	1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.96[ASN][1000 genomes]
rs2254410	1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.96[ASN][1000 genomes]
rs2254412	0.96[ASN][1000 genomes]
rs2254617	0.96[ASN][1000 genomes]
rs2254628	0.96[ASN][1000 genomes]
rs2254740	0.95[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs2254754	0.96[ASN][1000 genomes]
rs2254863	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2255253	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2255360	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2255739	0.98[ASN][1000 genomes]
rs2255943	0.96[ASN][1000 genomes]
rs2264555	0.96[ASN][1000 genomes]
rs2264844	0.96[ASN][1000 genomes]
rs2264848	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs2264849	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs2458672	0.96[ASN][1000 genomes]
rs2466751	0.96[ASN][1000 genomes]
rs2466752	0.96[ASN][1000 genomes]
rs2466754	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2466755	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2725199	0.98[ASN][1000 genomes]
rs2955063	0.95[ASN][1000 genomes]
rs34706288	0.97[EUR][1000 genomes]
rs3763776	0.82[EUR][1000 genomes]
rs3810954	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3938117	0.80[EUR][1000 genomes]
rs7078453	0.97[EUR][1000 genomes]
rs7078724	0.97[EUR][1000 genomes]
rs7082251	0.97[EUR][1000 genomes]
rs7083453	0.98[EUR][1000 genomes]
rs883017	0.98[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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831866	chr10:50165180-50335276	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
3	nsv6620	chr10:50197344-50224635	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50217200-50226600	Weak transcription	Aorta	Aorta
2	chr10:50217400-50231200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr10:50217600-50227000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr10:50218600-50223800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr10:50218600-50225800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr10:50218600-50238200	Weak transcription	Esophagus	oesophagus
7	chr10:50218800-50231400	Weak transcription	Adipose Nuclei	Adipose
8	chr10:50219200-50226600	Weak transcription	HSMMtube	muscle
9	chr10:50220000-50225800	Weak transcription	Fetal Intestine Large	intestine
10	chr10:50220400-50233600	Weak transcription	Gastric	stomach
11	chr10:50220800-50231200	Weak transcription	Brain Hippocampus Middle	brain
12	chr10:50221000-50233400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:50221400-50225200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr10:50221800-50226600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr10:50221800-50227400	Weak transcription	Fetal Intestine Small	intestine
16	chr10:50221800-50231400	Weak transcription	Colon Smooth Muscle	Colon
17	chr10:50221800-50232400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr10:50222000-50231400	Weak transcription	Right Ventricle	heart
19	chr10:50222000-50233800	Weak transcription	Lung	lung
20	chr10:50222200-50226600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr10:50222800-50279000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr10:50223000-50223800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr10:50223000-50224200	Weak transcription	Fetal Lung	lung
24	chr10:50223000-50225200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr10:50223000-50226600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr10:50223000-50226600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr10:50223000-50226800	Weak transcription	Ovary	ovary
28	chr10:50223000-50231600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr10:50223000-50231600	Weak transcription	Left Ventricle	heart
30	chr10:50223000-50254200	Weak transcription	NHDF-Ad	bronchial
31	chr10:50223200-50226800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr10:50223600-50223800	Enhancers	Spleen	Spleen
33	chr10:50223600-50226400	Strong transcription	Fetal Stomach	stomach
34	chr10:50223600-50227800	Strong transcription	Fetal Muscle Leg	muscle
35	chr10:50223600-50228000	Strong transcription	Fetal Muscle Trunk	muscle

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