Variant report

Variant	rs12040365
Chromosome Location	chr1:193317567-193317568
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	chr1:193312128..193314773-chr1:193315936..193317775,2	K562	blood:
2	chr1:193248975..193251649-chr1:193316395..193319289,2	K562	blood:

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs10732293	0.82[CHB][hapmap]
rs10754048	0.90[CEU][hapmap];0.82[CHB][hapmap]
rs10754049	0.90[CEU][hapmap];0.82[CHB][hapmap]
rs10754052	0.90[CEU][hapmap];0.81[CHB][hapmap]
rs10754054	0.84[EUR][1000 genomes]
rs10754055	0.86[EUR][1000 genomes]
rs10801178	0.82[CHB][hapmap]
rs10801179	0.90[CEU][hapmap];0.82[CHB][hapmap]
rs10801183	0.91[CEU][hapmap];0.82[CHB][hapmap]
rs10801184	0.82[CHB][hapmap]
rs10801187	0.82[CHB][hapmap]
rs10801189	0.82[CHB][hapmap]
rs10801194	0.86[EUR][1000 genomes]
rs10921323	0.82[CHB][hapmap]
rs10921325	0.90[CEU][hapmap]
rs10921326	0.82[CHB][hapmap]
rs10921330	0.82[CHB][hapmap]
rs10921336	0.83[EUR][1000 genomes]
rs10921343	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10921344	0.83[ASN][1000 genomes]
rs11577299	0.82[CHB][hapmap]
rs12025186	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12025393	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12032958	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12034095	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12037055	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12040832	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12041558	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12041893	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12047390	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12048579	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12090626	0.82[CHB][hapmap]
rs12124282	0.84[ASN][1000 genomes]
rs12125235	0.83[ASN][1000 genomes]
rs12145954	0.83[ASN][1000 genomes]
rs1221502	0.89[EUR][1000 genomes]
rs12410213	0.82[CHB][hapmap]
rs1325197	0.86[CEU][hapmap];0.81[CHB][hapmap]
rs1339961	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1361404	1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs1361405	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1408830	0.82[CHB][hapmap]
rs1536098	0.82[CHB][hapmap]
rs1536099	0.82[CHB][hapmap]
rs1616234	0.86[EUR][1000 genomes]
rs1632444	0.86[EUR][1000 genomes]
rs16835282	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16835304	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16835319	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16835320	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16835338	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1749429	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1749430	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1749431	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1749432	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1769999	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1770000	0.84[ASN][1000 genomes]
rs1972344	0.83[EUR][1000 genomes]
rs1972345	0.89[EUR][1000 genomes]
rs2050799	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2181858	0.81[ASN][1000 genomes]
rs2182106	0.90[CEU][hapmap];0.82[CHB][hapmap]
rs2254646	0.86[EUR][1000 genomes]
rs2275506	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2275507	0.82[ASN][1000 genomes]
rs2370029	0.90[CEU][hapmap];0.82[CHB][hapmap]
rs2477549	0.87[EUR][1000 genomes]
rs2486842	0.82[EUR][1000 genomes]
rs2486843	0.84[ASN][1000 genomes]
rs3738244	0.82[CHB][hapmap]
rs4379660	0.90[CEU][hapmap];0.82[CHB][hapmap]
rs4428863	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4657848	0.90[CEU][hapmap];0.82[CHB][hapmap]
rs4657854	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4657855	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4657856	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4657858	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs475163	0.81[EUR][1000 genomes]
rs497362	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs503265	0.86[EUR][1000 genomes]
rs515964	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs523402	0.83[EUR][1000 genomes]
rs524701	0.83[EUR][1000 genomes]
rs531327	0.96[ASN][1000 genomes]
rs543788	0.86[EUR][1000 genomes]
rs560900	0.89[EUR][1000 genomes]
rs569656	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs571029	0.84[EUR][1000 genomes]
rs578639	0.89[EUR][1000 genomes]
rs59264807	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61082463	0.81[ASN][1000 genomes]
rs61648161	0.81[ASN][1000 genomes]
rs6428152	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs6428154	0.91[CEU][hapmap];0.82[CHB][hapmap]
rs6428156	0.82[CHB][hapmap]
rs6428157	0.82[CHB][hapmap]
rs6428159	0.90[CEU][hapmap];0.82[CHB][hapmap];0.83[EUR][1000 genomes]
rs6428163	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6428166	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6662104	0.84[ASN][1000 genomes]
rs6665666	0.90[CEU][hapmap];0.82[CHB][hapmap]
rs6671476	0.86[EUR][1000 genomes]
rs6673271	0.90[CEU][hapmap];0.82[CHB][hapmap]
rs6675833	0.90[CEU][hapmap];0.82[CHB][hapmap]
rs6676878	0.90[CEU][hapmap];0.82[CHB][hapmap]
rs6680224	0.91[CEU][hapmap]
rs6686065	0.81[ASN][1000 genomes]
rs6693734	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6697195	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6702762	0.85[ASN][1000 genomes]
rs693519	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs7367986	0.81[ASN][1000 genomes]
rs7515024	0.82[CHB][hapmap]
rs7518792	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs7528595	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7534504	0.87[ASN][1000 genomes]
rs7543029	0.84[ASN][1000 genomes]
rs7544027	0.81[ASN][1000 genomes]
rs7550521	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7555466	0.81[ASN][1000 genomes]
rs817136	0.83[EUR][1000 genomes]
rs817138	0.81[EUR][1000 genomes]
rs817140	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs817142	0.83[EUR][1000 genomes]
rs817143	0.83[EUR][1000 genomes]
rs843844	0.86[CEU][hapmap];0.81[EUR][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	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv997891	chr1:193271839-193566441	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193311000-193324000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:193312200-193317600	Weak transcription	Ovary	ovary
3	chr1:193316000-193317800	Weak transcription	Fetal Intestine Small	intestine
4	chr1:193316200-193317600	Weak transcription	Fetal Intestine Large	intestine
5	chr1:193316400-193323400	Weak transcription	Stomach Mucosa	stomach
6	chr1:193316600-193317800	Weak transcription	Fetal Kidney	kidney
7	chr1:193317200-193317800	Enhancers	Fetal Muscle Leg	muscle
8	chr1:193317200-193317800	Enhancers	Psoas Muscle	Psoas
9	chr1:193317200-193318600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:193317400-193317600	Enhancers	Fetal Brain Female	brain
11	chr1:193317400-193317600	Enhancers	Fetal Lung	lung
12	chr1:193317400-193317800	Flanking Active TSS	HSMMtube	muscle
13	chr1:193317400-193318000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr1:193317400-193318600	Enhancers	HSMM	muscle
15	chr1:193317400-193318800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr1:193317400-193319200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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