Variant report

Variant	rs12712499
Chromosome Location	chr2:36590531-36590532
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	chr2:36581144..36585281-chr2:36586722..36590613,9	MCF-7	breast:
2	chr2:36581644..36585884-chr2:36589453..36593565,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150938	Chromatin interaction
ENSG00000260025	Chromatin interaction

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

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

rs_ID	r²[population]
rs10184083	0.90[ASN][1000 genomes]
rs10184188	0.89[ASN][1000 genomes]
rs11885390	0.91[JPT][hapmap]
rs11891181	0.91[JPT][hapmap]
rs12712501	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs3770919	0.91[JPT][hapmap]
rs3770928	0.91[JPT][hapmap]
rs3770935	0.90[JPT][hapmap]
rs3770939	0.91[JPT][hapmap]
rs3770941	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs3770943	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs3770949	0.84[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs3770962	0.87[ASN][1000 genomes]
rs3821162	0.91[JPT][hapmap]
rs3821166	0.94[ASN][1000 genomes]
rs4670145	0.91[JPT][hapmap]
rs4670553	0.91[JPT][hapmap]
rs67501694	0.94[ASN][1000 genomes]
rs72785157	0.90[ASN][1000 genomes]
rs72785173	0.90[ASN][1000 genomes]
rs7556859	0.82[ASN][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	esv2757792	chr2:36243452-36590658	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv2759040	chr2:36243452-36590658	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv833803	chr2:36589065-36745779	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36585200-36596400	Weak transcription	Pancreas	Pancrea
2	chr2:36585800-36590600	Weak transcription	Colonic Mucosa	Colon
3	chr2:36585800-36596400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:36586000-36591800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr2:36586000-36593000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:36586000-36593600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:36586200-36603600	Weak transcription	Brain Germinal Matrix	brain
8	chr2:36586200-36626600	Weak transcription	Primary B cells from cord blood	blood
9	chr2:36586400-36591800	Enhancers	Placenta	Placenta
10	chr2:36586600-36596400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:36586800-36592000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:36586800-36593800	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:36587000-36593800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:36587200-36592000	Enhancers	Placenta Amnion	Placenta Amnion
15	chr2:36587200-36593800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr2:36587400-36590800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:36587400-36590800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:36587400-36594000	Weak transcription	Fetal Stomach	stomach
19	chr2:36587800-36593800	Weak transcription	Fetal Intestine Small	intestine
20	chr2:36587800-36594000	Weak transcription	Right Ventricle	heart
21	chr2:36588000-36591600	Enhancers	HepG2	liver
22	chr2:36588000-36591800	Genic enhancers	HSMM	muscle
23	chr2:36588000-36593600	Weak transcription	Fetal Kidney	kidney
24	chr2:36588200-36593800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr2:36588400-36593600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr2:36588600-36591800	Enhancers	HSMMtube	muscle
27	chr2:36588800-36592000	Enhancers	Stomach Smooth Muscle	stomach
28	chr2:36588800-36593600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:36589000-36594200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr2:36589200-36592000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:36589200-36592000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:36589200-36592000	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr2:36589200-36593600	Weak transcription	Brain Substantia Nigra	brain
34	chr2:36589200-36593800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr2:36589400-36591000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:36589400-36592400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:36589400-36594000	Weak transcription	Fetal Brain Male	brain
38	chr2:36589400-36594800	Weak transcription	Fetal Brain Female	brain
39	chr2:36589600-36591200	Enhancers	Lung	lung
40	chr2:36589600-36591400	Enhancers	Spleen	Spleen
41	chr2:36589600-36593600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:36589600-36595000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:36589800-36590800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:36589800-36590800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:36589800-36590800	Weak transcription	Fetal Heart	heart
46	chr2:36589800-36590800	Weak transcription	Psoas Muscle	Psoas
47	chr2:36589800-36590800	Enhancers	NHDF-Ad	bronchial
48	chr2:36589800-36591000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:36589800-36591400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:36589800-36592600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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