Variant report

Variant	rs12515492
Chromosome Location	chr5:95224783-95224784
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95219720..95223922-chr5:95224301..95226439,3	MCF-7	breast:
2	chr5:95218349..95221486-chr5:95224324..95227675,3	K562	blood:
3	chr5:95222676..95225284-chr5:95226303..95229080,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1004654	1.00[CHD][hapmap]
rs10428657	0.82[JPT][hapmap]
rs10428702	0.82[JPT][hapmap];1.00[MEX][hapmap]
rs10515231	1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs10515233	1.00[JPT][hapmap]
rs11948037	1.00[JPT][hapmap]
rs12514954	0.82[JPT][hapmap]
rs12522489	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs1465446	1.00[CHD][hapmap]
rs17085224	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs17085227	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs17085339	1.00[JPT][hapmap]
rs17085366	1.00[JPT][hapmap]
rs17085373	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs17085393	1.00[JPT][hapmap]
rs2161317	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3756701	1.00[JPT][hapmap]
rs3777174	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs6861075	1.00[JPT][hapmap]
rs6873611	1.00[CHD][hapmap]
rs6891633	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7724475	1.00[JPT][hapmap]

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	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1019566	chr5:95180352-95300677	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95213000-95244600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:95214400-95224800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:95214400-95234200	Weak transcription	Fetal Brain Female	brain
4	chr5:95214400-95247800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:95214400-95251800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:95214600-95225000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr5:95214600-95230400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr5:95214800-95226000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:95215000-95230200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:95215200-95234200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:95215600-95226000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:95215600-95226000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr5:95215800-95244600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:95216600-95225800	Weak transcription	Colonic Mucosa	Colon
15	chr5:95217800-95225600	Weak transcription	Lung	lung
16	chr5:95217800-95230000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:95218000-95225400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr5:95218000-95225800	Weak transcription	Aorta	Aorta
19	chr5:95218000-95226200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr5:95218000-95231000	Weak transcription	Right Atrium	heart
21	chr5:95218000-95242200	Weak transcription	Spleen	Spleen
22	chr5:95218200-95224800	Weak transcription	Brain Hippocampus Middle	brain
23	chr5:95218200-95231600	Weak transcription	Fetal Heart	heart
24	chr5:95218200-95246200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr5:95219200-95225600	Weak transcription	Pancreas	Pancrea
26	chr5:95219200-95226000	Weak transcription	Brain Angular Gyrus	brain
27	chr5:95219200-95229600	Weak transcription	Esophagus	oesophagus
28	chr5:95219600-95225800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr5:95219800-95244400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:95220000-95225400	Weak transcription	HUVEC	blood vessel
31	chr5:95220000-95227400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr5:95220000-95242000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr5:95220000-95245200	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr5:95220200-95225600	Weak transcription	Primary T cells from cord blood	blood
35	chr5:95220200-95225600	Weak transcription	Right Ventricle	heart
36	chr5:95220200-95225800	Weak transcription	Ovary	ovary
37	chr5:95220200-95230600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr5:95220200-95235400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr5:95220400-95225000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr5:95220400-95225800	Weak transcription	Fetal Intestine Small	intestine
41	chr5:95220400-95227000	Weak transcription	Small Intestine	intestine
42	chr5:95220400-95236800	Strong transcription	HMEC	breast
43	chr5:95220600-95225600	Weak transcription	Psoas Muscle	Psoas
44	chr5:95220600-95236200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:95220600-95243200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr5:95220800-95225000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:95220800-95234000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr5:95220800-95235400	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr5:95220800-95235600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:95220800-95237200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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