Variant report

Variant	rs12592505
Chromosome Location	chr15:75782450-75782451
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	chr15:75781333..75783165-chr15:75786697..75789671,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12591076	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12591309	0.93[CHB][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12591954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12592026	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12593372	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12593870	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12594013	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs12594671	1.00[EUR][1000 genomes]
rs28372857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3803466	0.84[CHB][hapmap];0.81[JPT][hapmap];1.00[MKK][hapmap]
rs4886434	1.00[EUR][1000 genomes]
rs4886435	1.00[EUR][1000 genomes]
rs4886445	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4886685	1.00[EUR][1000 genomes]
rs4886689	1.00[EUR][1000 genomes]
rs4886697	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4886701	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8032031	1.00[EUR][1000 genomes]
rs8035510	1.00[EUR][1000 genomes]
rs8035796	1.00[EUR][1000 genomes]
rs9788768	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531901	chr15:75600108-76019966	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	esv3445070	chr15:75623136-76045948	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv530345	chr15:75628556-75951011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv1048028	chr15:75637515-76019967	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
5	nsv542436	chr15:75637515-76019967	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
6	nsv482802	chr15:75686519-75899896	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
7	esv1800424	chr15:75692303-75991451	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
8	nsv904387	chr15:75706296-75806911	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv531902	chr15:75724505-75919237	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
10	nsv904388	chr15:75730182-75804543	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
11	nsv904389	chr15:75739824-75806911	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
12	nsv827390	chr15:75766087-75795370	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75749000-75797800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr15:75761600-75785200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr15:75762200-75798000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr15:75762400-75792000	Weak transcription	Esophagus	oesophagus
5	chr15:75762400-75797800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:75762400-75798000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr15:75763600-75785800	Weak transcription	Psoas Muscle	Psoas
8	chr15:75763800-75797800	Weak transcription	Brain Substantia Nigra	brain
9	chr15:75765600-75797800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:75766800-75798000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr15:75767200-75784800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr15:75768200-75783800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr15:75772000-75797800	Weak transcription	NHEK	skin
14	chr15:75772200-75794200	Weak transcription	Brain Hippocampus Middle	brain
15	chr15:75772400-75797800	Weak transcription	Fetal Brain Male	brain
16	chr15:75772400-75797800	Weak transcription	Right Ventricle	heart
17	chr15:75772400-75797800	Weak transcription	Spleen	Spleen
18	chr15:75772400-75798000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr15:75772600-75785000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr15:75775200-75783400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr15:75775200-75787200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr15:75775200-75788000	Strong transcription	Dnd41	blood
23	chr15:75775200-75789600	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr15:75775200-75789800	Strong transcription	Fetal Muscle Trunk	muscle
25	chr15:75775200-75795400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr15:75775200-75795400	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr15:75775400-75782800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:75775400-75784800	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr15:75775400-75795400	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr15:75775600-75783000	Strong transcription	Liver	Liver
31	chr15:75775600-75788600	Strong transcription	Fetal Intestine Large	intestine
32	chr15:75775800-75798000	Weak transcription	Fetal Heart	heart
33	chr15:75776000-75782600	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr15:75776000-75783400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr15:75776000-75785800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr15:75776000-75786800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr15:75776000-75788400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr15:75776000-75795400	Strong transcription	Fetal Stomach	stomach
39	chr15:75776200-75795400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr15:75776800-75783000	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr15:75777000-75783200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr15:75777000-75783400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr15:75777000-75785800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr15:75777200-75785200	Weak transcription	Stomach Mucosa	stomach
45	chr15:75777200-75792000	Weak transcription	Gastric	stomach
46	chr15:75777200-75794200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr15:75777200-75816800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr15:75777400-75794000	Weak transcription	HUVEC	blood vessel
49	chr15:75777600-75795400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr15:75777600-75812000	Weak transcription	Small Intestine	intestine

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