Variant report

Variant	rs12592619
Chromosome Location	chr15:34208006-34208007
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10152356	0.93[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap]
rs10152468	0.92[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs10152547	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10152674	0.92[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs10152857	0.92[CEU][hapmap];0.85[JPT][hapmap]
rs10162701	0.82[CHB][hapmap]
rs1019585	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11072795	0.82[CHB][hapmap]
rs12591428	0.87[ASN][1000 genomes]
rs12592331	0.92[CEU][hapmap];0.80[JPT][hapmap]
rs1862916	0.88[ASN][1000 genomes]
rs1862917	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1978498	0.90[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs1978499	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2077422	0.81[CHB][hapmap]
rs2879440	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3889750	0.81[CHB][hapmap]
rs4267279	0.81[CHB][hapmap]
rs4533258	0.90[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs4613036	0.82[CHB][hapmap]
rs571157	0.94[JPT][hapmap]
rs572917	0.95[JPT][hapmap]
rs609221	0.84[ASN][1000 genomes]
rs6495331	0.91[ASN][1000 genomes]
rs7170866	0.87[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	nsv1043046	chr15:33714908-34321330	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv456789	chr15:34034421-34426618	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv568920	chr15:34034421-34426618	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv471235	chr15:34035529-34421951	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv568921	chr15:34046635-34247622	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1044844	chr15:34065524-34296829	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv903984	chr15:34174066-34238804	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv977841	chr15:34204739-34224060	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34199600-34220800	Weak transcription	Right Atrium	heart
2	chr15:34204000-34211800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:34207200-34208200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr15:34207400-34208200	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr15:34207400-34208400	Enhancers	Esophagus	oesophagus
6	chr15:34207400-34208600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr15:34207600-34208200	Enhancers	Duodenum Mucosa	Duodenum
8	chr15:34207600-34208200	Enhancers	Fetal Intestine Large	intestine
9	chr15:34207600-34208200	Enhancers	Fetal Intestine Small	intestine
10	chr15:34207600-34208200	Enhancers	Psoas Muscle	Psoas
11	chr15:34207600-34208400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr15:34207600-34208400	Enhancers	Stomach Mucosa	stomach
13	chr15:34207600-34208600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr15:34207600-34208600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr15:34207600-34208600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr15:34207600-34208600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr15:34207600-34208600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr15:34207600-34208600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr15:34207600-34208600	Enhancers	GM12878-XiMat	blood
20	chr15:34207600-34208600	Enhancers	HMEC	breast
21	chr15:34207600-34208600	Enhancers	NHEK	skin
22	chr15:34207800-34208200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr15:34207800-34208200	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr15:34207800-34208200	Flanking Active TSS	Hela-S3	cervix
25	chr15:34207800-34208200	Flanking Active TSS	K562	blood
26	chr15:34207800-34208400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr15:34207800-34208400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr15:34207800-34208400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr15:34207800-34208400	Enhancers	Placenta	Placenta
30	chr15:34207800-34208400	Enhancers	Placenta Amnion	Placenta Amnion
31	chr15:34207800-34208400	Enhancers	HSMMtube	muscle
32	chr15:34207800-34208600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr15:34207800-34208600	Enhancers	H9 Cell Line	embryonic stem cell
34	chr15:34207800-34208600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr15:34208000-34208200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr15:34208000-34208400	Enhancers	H1 Cell Line	embryonic stem cell
37	chr15:34208000-34208400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr15:34208000-34208400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr15:34208000-34208400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr15:34208000-34208400	Enhancers	Fetal Muscle Trunk	muscle
41	chr15:34208000-34208400	Enhancers	A549	lung
42	chr15:34208000-34208600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr15:34208000-34208600	Enhancers	Primary B cells from peripheral blood	blood
44	chr15:34208000-34208600	Enhancers	Gastric	stomach
45	chr15:34208000-34208600	Enhancers	Left Ventricle	heart

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