Variant report

Variant	rs699575
Chromosome Location	chr12:63294839-63294840
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:63292677..63295227-chr12:63307980..63310635,2	MCF-7	breast:
2	chr12:63293103..63295682-chr12:63297040..63300523,3	MCF-7	breast:
3	chr12:63284624..63286750-chr12:63293263..63294945,2	MCF-7	breast:
4	chr12:63293376..63296810-chr12:63296910..63300842,4	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs681224	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs682732	1.00[GIH][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3415227	chr12:63228121-63591615	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv899161	chr12:63275017-63311148	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv899162	chr12:63279750-63334242	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	nsv899163	chr12:63288343-63325988	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63282200-63295400	Weak transcription	Lung	lung
2	chr12:63287400-63309000	Weak transcription	Pancreas	Pancrea
3	chr12:63287800-63316400	Weak transcription	Fetal Intestine Small	intestine
4	chr12:63289600-63306600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr12:63291400-63295000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr12:63291400-63295600	Enhancers	Brain Angular Gyrus	brain
7	chr12:63291400-63295600	Enhancers	Brain Anterior Caudate	brain
8	chr12:63291400-63297400	Enhancers	Brain Substantia Nigra	brain
9	chr12:63291600-63295000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr12:63291600-63295200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:63291600-63295600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:63291600-63295600	Enhancers	Brain Hippocampus Middle	brain
13	chr12:63291600-63295800	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr12:63291800-63295600	Enhancers	Brain Cingulate Gyrus	brain
15	chr12:63292000-63295800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:63292800-63296200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:63292800-63311600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:63293400-63295000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr12:63293400-63295400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr12:63293400-63295800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr12:63293600-63295000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:63293600-63297400	Enhancers	K562	blood
23	chr12:63293800-63296800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:63293800-63296800	Weak transcription	Hela-S3	cervix
25	chr12:63293800-63297600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr12:63294000-63295400	Weak transcription	Left Ventricle	heart
27	chr12:63294000-63297200	Enhancers	HepG2	liver
28	chr12:63294200-63296600	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr12:63294400-63295000	Enhancers	Right Ventricle	heart
30	chr12:63294400-63295200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr12:63294400-63295200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr12:63294400-63295600	Enhancers	Fetal Heart	heart
33	chr12:63294600-63295000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr12:63294600-63295000	Enhancers	H9 Cell Line	embryonic stem cell
35	chr12:63294600-63295000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:63294600-63295000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:63294600-63295000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr12:63294600-63295000	Enhancers	HSMMtube	muscle
39	chr12:63294600-63295800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr12:63294600-63296800	Weak transcription	Fetal Muscle Leg	muscle
41	chr12:63294800-63295000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:63294800-63295400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:63294800-63296200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:63294800-63296400	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr12:63294800-63296600	Weak transcription	Adipose Nuclei	Adipose

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