Variant report

Variant	rs2059769
Chromosome Location	chr12:106503070-106503071
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:106494133..106496771-chr12:106501271..106503780,3	MCF-7	breast:
2	chr12:106501658..106504096-chr12:106533862..106535852,2	MCF-7	breast:
3	chr12:106499591..106503536-chr12:106504416..106508585,6	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10861556	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11112867	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs11112872	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3782691	0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832509	chr12:106363888-106516221	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2059769	WSCD2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106492000-106504400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:106493400-106512400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:106495600-106507200	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr12:106498400-106507200	Weak transcription	Pancreas	Pancrea
5	chr12:106499400-106503800	Enhancers	Brain Germinal Matrix	brain
6	chr12:106499400-106504000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr12:106499400-106505400	Enhancers	Fetal Intestine Small	intestine
8	chr12:106499600-106503200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr12:106499600-106503200	Enhancers	Fetal Muscle Leg	muscle
10	chr12:106499600-106503400	Enhancers	Psoas Muscle	Psoas
11	chr12:106499600-106503600	Enhancers	Brain Anterior Caudate	brain
12	chr12:106499600-106503600	Enhancers	Hela-S3	cervix
13	chr12:106499600-106503800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr12:106499600-106504200	Enhancers	Fetal Brain Male	brain
15	chr12:106499600-106504600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr12:106499600-106505000	Enhancers	Fetal Intestine Large	intestine
17	chr12:106499600-106505000	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr12:106499600-106505200	Enhancers	Brain Cingulate Gyrus	brain
19	chr12:106499600-106511400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:106499800-106503200	Enhancers	NH-A	brain
21	chr12:106499800-106507800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:106499800-106508400	Genic enhancers	HSMM	muscle
23	chr12:106500000-106503400	Enhancers	Osteobl	bone
24	chr12:106500000-106503800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:106500000-106503800	Enhancers	Fetal Lung	lung
26	chr12:106500000-106506200	Enhancers	NHEK	skin
27	chr12:106500000-106507000	Enhancers	Adipose Nuclei	Adipose
28	chr12:106500000-106507400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr12:106500000-106510000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr12:106500200-106503600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:106500200-106503600	Enhancers	Aorta	Aorta
32	chr12:106500200-106505200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr12:106500200-106507400	Enhancers	H1 Cell Line	embryonic stem cell
34	chr12:106500200-106510200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:106500200-106514000	Enhancers	Liver	Liver
36	chr12:106500400-106503200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:106500400-106503200	Enhancers	Placenta	Placenta
38	chr12:106500400-106503200	Enhancers	HMEC	breast
39	chr12:106500400-106505400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:106500400-106505800	Enhancers	Brain Substantia Nigra	brain
41	chr12:106500600-106503200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr12:106500600-106503200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:106500600-106503200	Flanking Active TSS	A549	lung
44	chr12:106500600-106504400	Enhancers	Left Ventricle	heart
45	chr12:106500600-106504600	Enhancers	H9 Cell Line	embryonic stem cell
46	chr12:106500600-106507400	Enhancers	HepG2	liver
47	chr12:106500600-106508600	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr12:106500600-106508600	Enhancers	Right Atrium	heart
49	chr12:106500800-106503200	Enhancers	Duodenum Mucosa	Duodenum
50	chr12:106500800-106503200	Enhancers	Lung	lung

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