Variant report

Variant	rs2493648
Chromosome Location	chr10:43943819-43943820
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	chr10:43943576..43945411-chr10:43948645..43950880,3	K562	blood:
2	chr10:43943009..43945472-chr10:43950940..43952726,2	MCF-7	breast:

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10732897	0.83[ASN][1000 genomes]
rs10751319	0.84[AMR][1000 genomes]
rs10793430	0.90[ASN][1000 genomes]
rs10793431	0.89[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.99[MKK][hapmap];0.94[TSI][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10899794	0.85[JPT][hapmap]
rs10899795	0.84[CEU][hapmap];0.93[GIH][hapmap];0.86[TSI][hapmap]
rs10899797	0.85[JPT][hapmap]
rs10899798	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10899799	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11238542	0.93[ASN][1000 genomes]
rs1126487	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12257917	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12779063	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1416226	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2066043	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2066044	0.89[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2247860	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2247979	0.89[ASW][hapmap];0.83[CHB][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2247981	0.89[ASW][hapmap];0.83[CHB][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2248332	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2248335	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2248469	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2248706	0.90[ASN][1000 genomes]
rs2250444	0.89[ASW][hapmap];0.83[CHB][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2252783	0.89[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];0.94[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2252785	0.89[ASW][hapmap];0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.94[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2252800	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2255967	0.82[AFR][1000 genomes]
rs2256495	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2256613	0.90[ASN][1000 genomes]
rs2259045	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2260162	0.98[ASN][1000 genomes]
rs2260200	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2261636	0.85[JPT][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2261665	0.89[ASN][1000 genomes]
rs2265886	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2265887	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2265888	0.95[AFR][1000 genomes]
rs2265952	0.81[AMR][1000 genomes]
rs2265953	0.83[AMR][1000 genomes]
rs2265954	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2393954	0.90[ASN][1000 genomes]
rs2492403	0.98[ASN][1000 genomes]
rs2492404	0.86[AFR][1000 genomes]
rs2492405	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2492407	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2492408	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2492409	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2492410	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2492411	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2492412	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2812797	0.87[ASN][1000 genomes]
rs2819021	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2819026	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2819032	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2819034	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2999223	0.83[ASN][1000 genomes]
rs2999225	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2999276	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2999282	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2999286	0.83[AFR][1000 genomes]
rs2999287	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3000700	0.86[AFR][1000 genomes]
rs3006405	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3006408	0.90[ASN][1000 genomes]
rs3006409	0.83[ASN][1000 genomes]
rs3750890	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4551711	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4559639	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4584528	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4597022	0.89[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.94[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4948726	0.83[CHB][hapmap];0.85[JPT][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs56059584	0.82[AFR][1000 genomes]
rs61859002	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs6421744	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6593513	0.85[JPT][hapmap]
rs7069214	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7070029	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7070769	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7081729	0.92[ASN][1000 genomes]
rs7088430	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7089290	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7092599	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7894374	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7905676	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs7914140	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7918726	0.90[ASN][1000 genomes]
rs7920539	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9422371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[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	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
2	nsv895087	chr10:43783339-43982390	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv831842	chr10:43846541-43987501	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv895088	chr10:43871999-44003101	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv825354	chr10:43883418-43949936	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv825356	chr10:43893080-43946515	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
7	esv3448813	chr10:43919995-43950867	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv1043746	chr10:43940898-43977155	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43933000-43947200	Weak transcription	Spleen	Spleen
2	chr10:43933000-43949600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:43933000-43950200	Weak transcription	Lung	lung
4	chr10:43933200-43947600	Weak transcription	Brain Anterior Caudate	brain
5	chr10:43933200-43948000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr10:43933200-43950000	Weak transcription	Brain Substantia Nigra	brain
7	chr10:43933200-43950200	Weak transcription	Brain Angular Gyrus	brain
8	chr10:43933200-43950200	Weak transcription	Brain Hippocampus Middle	brain
9	chr10:43933200-43950200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr10:43933200-43950200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr10:43933400-43948000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr10:43933600-43947200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr10:43933600-43947400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr10:43933600-43948200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr10:43933600-43948200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr10:43933600-43949800	Weak transcription	Adipose Nuclei	Adipose
17	chr10:43933800-43946600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr10:43934200-43949200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr10:43936400-43950000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr10:43936600-43946000	Weak transcription	Primary B cells from cord blood	blood
21	chr10:43936800-43944200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr10:43938600-43948000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr10:43940000-43946800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr10:43940200-43950200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr10:43940400-43950200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr10:43940400-43950200	Weak transcription	Colonic Mucosa	Colon
27	chr10:43940800-43944800	Weak transcription	Primary T cells from cord blood	blood
28	chr10:43940800-43947200	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr10:43940800-43949600	Weak transcription	Hela-S3	cervix
30	chr10:43940800-43950600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr10:43941200-43947200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr10:43942200-43946000	Weak transcription	Thymus	Thymus
33	chr10:43942600-43946800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr10:43942600-43947200	Weak transcription	Fetal Muscle Leg	muscle
35	chr10:43943000-43950400	Weak transcription	Fetal Intestine Large	intestine
36	chr10:43943200-43946400	Weak transcription	Dnd41	blood
37	chr10:43943200-43950400	Weak transcription	Fetal Stomach	stomach
38	chr10:43943800-43945000	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr10:43943800-43947800	Enhancers	Primary B cells from peripheral blood	blood
40	chr10:43943800-43950200	Weak transcription	Fetal Intestine Small	intestine

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