Variant report

Variant	rs12594827
Chromosome Location	chr15:49721882-49721883
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10519227	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11070698	1.00[CEU][hapmap]
rs11070711	1.00[CEU][hapmap]
rs12591134	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12591799	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12592177	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12592277	0.90[ASN][1000 genomes]
rs12592296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12593068	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12593119	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12594154	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12595497	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12595701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12898461	1.00[YRI][hapmap]
rs12898877	1.00[YRI][hapmap]
rs12903992	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs12916078	1.00[YRI][hapmap]
rs1354919	1.00[CEU][hapmap]
rs1580996	1.00[CEU][hapmap]
rs1580997	1.00[CEU][hapmap]
rs16962418	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs16962419	1.00[YRI][hapmap]
rs17477923	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17479205	0.90[ASN][1000 genomes]
rs17479289	0.90[ASN][1000 genomes]
rs1874614	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs1961692	0.86[ASN][1000 genomes]
rs34635038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3809495	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4338740	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4396481	1.00[CEU][hapmap]
rs56199525	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs56875838	0.86[ASN][1000 genomes]
rs62012204	1.00[EUR][1000 genomes]
rs7168316	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7176697	1.00[CHB][hapmap]
rs73398264	0.90[ASN][1000 genomes]
rs73400205	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039368	chr15:49566094-49764066	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv833002	chr15:49621400-49781799	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49714000-49722600	Active TSS	Stomach Smooth Muscle	stomach
2	chr15:49716200-49732200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr15:49716400-49737200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr15:49716800-49722000	Weak transcription	Colonic Mucosa	Colon
5	chr15:49718000-49727800	Weak transcription	HSMMtube	muscle
6	chr15:49718000-49731200	Weak transcription	Left Ventricle	heart
7	chr15:49719400-49731200	Weak transcription	Fetal Muscle Leg	muscle
8	chr15:49719600-49722600	Transcr. at gene 5' and 3'	Osteobl	bone
9	chr15:49720600-49722800	Enhancers	Fetal Stomach	stomach
10	chr15:49720600-49723200	Enhancers	Fetal Heart	heart
11	chr15:49720800-49722200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr15:49721000-49722000	Weak transcription	Right Atrium	heart
13	chr15:49721000-49736200	Weak transcription	Right Ventricle	heart
14	chr15:49721200-49722200	Weak transcription	Colon Smooth Muscle	Colon
15	chr15:49721200-49722200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr15:49721200-49722400	Weak transcription	Psoas Muscle	Psoas
17	chr15:49721200-49722600	Enhancers	Fetal Lung	lung
18	chr15:49721200-49723800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr15:49721400-49722200	Weak transcription	Adipose Nuclei	Adipose
20	chr15:49721400-49722200	Enhancers	NHDF-Ad	bronchial
21	chr15:49721600-49722000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr15:49721600-49722000	Enhancers	NHLF	lung
23	chr15:49721800-49722600	Enhancers	Ovary	ovary
24	chr15:49721800-49726200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr15:49721800-49730000	Weak transcription	Primary hematopoietic stem cells	blood

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