Variant report

Variant	rs10461740
Chromosome Location	chr5:43466229-43466230
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	chr5:43464683..43466684-chr5:43474639..43477338,3	K562	blood:

Variant related genes	Relation type
ENSG00000151881	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10058080	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1025299	1.00[JPT][hapmap]
rs10461741	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10461744	1.00[JPT][hapmap]
rs10462050	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10462054	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs10941642	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.83[MKK][hapmap];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12653472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12653645	0.81[ASN][1000 genomes]
rs12656199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12656650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12657635	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12657724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12658205	1.00[AMR][1000 genomes]
rs12659627	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13154319	1.00[CEU][hapmap]
rs13155622	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs13155888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13158442	1.00[AMR][1000 genomes]
rs13160431	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs13161149	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs13161298	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs13161668	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13161770	1.00[AMR][1000 genomes]
rs13165869	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13166593	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs13167838	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs13168053	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13169908	1.00[CEU][hapmap]
rs13173517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13175688	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs13177107	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13179680	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13180902	1.00[CEU][hapmap]
rs13183407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13183746	0.93[ASN][1000 genomes]
rs13186439	1.00[CEU][hapmap]
rs13188640	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs13188683	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs13188884	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13190614	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13356232	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs16873319	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs16873404	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs16873421	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs16873433	1.00[JPT][hapmap]
rs2042950	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap]
rs34096155	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34141186	0.81[ASN][1000 genomes]
rs34179982	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34211578	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34350522	1.00[AMR][1000 genomes]
rs34455365	1.00[AMR][1000 genomes]
rs34512505	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34617389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34788563	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34792822	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs34868623	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34973456	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34980504	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34991197	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35136550	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs35171369	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35478855	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35590922	1.00[AMR][1000 genomes]
rs35602154	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35707409	1.00[AMR][1000 genomes]
rs35713376	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35733458	1.00[AMR][1000 genomes]
rs35923573	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35966682	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs36076336	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36104847	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3733767	1.00[JPT][hapmap]
rs3756417	1.00[JPT][hapmap]
rs3764980	0.82[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap]
rs3792917	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs3792921	0.91[CHD][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap]
rs3805720	0.82[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap]
rs3805721	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs3805722	1.00[JPT][hapmap]
rs3806871	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs3822423	1.00[JPT][hapmap]
rs3828695	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4264950	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs4438885	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4498257	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4533897	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6451719	0.82[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs6862487	1.00[JPT][hapmap]
rs6862588	1.00[JPT][hapmap]
rs6868763	0.82[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs6889653	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6890108	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs6892337	1.00[JPT][hapmap]
rs71629170	1.00[AMR][1000 genomes]
rs71629171	1.00[AMR][1000 genomes]
rs71629172	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71629174	1.00[AMR][1000 genomes]
rs71629175	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71629177	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71629178	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71629180	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7716562	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7720858	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs7737947	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs9292877	1.00[JPT][hapmap];1.00[MEX][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43433800-43483400	Weak transcription	Gastric	stomach
2	chr5:43440800-43466400	Weak transcription	Colon Smooth Muscle	Colon
3	chr5:43440800-43466800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr5:43441600-43466600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr5:43444000-43467000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr5:43444000-43467000	Weak transcription	Left Ventricle	heart
7	chr5:43444000-43482600	Weak transcription	HMEC	breast
8	chr5:43444200-43467000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:43444200-43472600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr5:43444600-43466800	Weak transcription	Brain Angular Gyrus	brain
11	chr5:43444800-43466600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr5:43444800-43482600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr5:43445200-43466800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr5:43448200-43467400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr5:43448200-43471800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr5:43453800-43482600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr5:43454000-43482400	Weak transcription	Osteobl	bone
18	chr5:43454800-43482800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr5:43460400-43466400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr5:43460400-43467000	Weak transcription	Ovary	ovary
21	chr5:43460400-43467400	Weak transcription	HUVEC	blood vessel
22	chr5:43460400-43472600	Weak transcription	Fetal Kidney	kidney
23	chr5:43460600-43471600	Weak transcription	NHDF-Ad	bronchial
24	chr5:43460600-43472000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:43461000-43470000	Weak transcription	HSMMtube	muscle
26	chr5:43461000-43482400	Weak transcription	NHLF	lung
27	chr5:43461200-43466600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:43461200-43467000	Weak transcription	Aorta	Aorta
29	chr5:43461200-43468000	Weak transcription	Thymus	Thymus
30	chr5:43461200-43482800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr5:43461200-43483400	Weak transcription	Pancreas	Pancrea
32	chr5:43461600-43469800	Weak transcription	HSMM	muscle
33	chr5:43462200-43466800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr5:43462200-43466800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr5:43462200-43467400	Weak transcription	NHEK	skin
36	chr5:43462200-43467600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr5:43462200-43474000	Weak transcription	Lung	lung
38	chr5:43462200-43482600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr5:43462200-43482600	Weak transcription	Fetal Stomach	stomach
40	chr5:43462200-43482800	Weak transcription	Right Ventricle	heart
41	chr5:43462400-43466400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr5:43462400-43466800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr5:43462400-43483000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr5:43462400-43483400	Weak transcription	Spleen	Spleen
45	chr5:43462600-43467400	Weak transcription	Hela-S3	cervix
46	chr5:43464000-43467800	Weak transcription	Fetal Thymus	thymus
47	chr5:43464200-43480000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr5:43465000-43470200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:43465400-43466600	Weak transcription	Brain Hippocampus Middle	brain
50	chr5:43465600-43467600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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