Variant report

Variant	rs11058290
Chromosome Location	chr12:122953303-122953304
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122749306..122751668-chr12:122952784..122955714,2	MCF-7	breast:
2	chr12:122947417..122950530-chr12:122951037..122954189,4	MCF-7	breast:
3	chr12:122940258..122942262-chr12:122952738..122954252,2	MCF-7	breast:
4	chr12:122905850..122909660-chr12:122951955..122956519,6	MCF-7	breast:
5	chr12:122882705..122889710-chr12:122952485..122957935,12	K562	blood:

Variant related genes	Relation type
ENSG00000130779	Chromatin interaction
ENSG00000256861	Chromatin interaction
ENSG00000139719	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11058435	1.00[AMR][1000 genomes]
rs12296400	1.00[AMR][1000 genomes]
rs12312757	1.00[AMR][1000 genomes]
rs12314100	1.00[AMR][1000 genomes]
rs13377981	1.00[AMR][1000 genomes]
rs7133070	0.83[AMR][1000 genomes]
rs7294365	1.00[AMR][1000 genomes]
rs7299845	0.83[AMR][1000 genomes]
rs7961579	1.00[AMR][1000 genomes]
rs7969173	0.83[AMR][1000 genomes]
rs7974085	1.00[AMR][1000 genomes]
rs7978870	0.83[AMR][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	nsv973945	chr12:122923254-122958354	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122922800-122960400	Weak transcription	Right Atrium	heart
2	chr12:122938800-122957000	Weak transcription	Thymus	Thymus
3	chr12:122939600-122955200	Weak transcription	Fetal Thymus	thymus
4	chr12:122941200-122957200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr12:122944400-122957000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:122945800-122956000	Weak transcription	GM12878-XiMat	blood
7	chr12:122948600-122957000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:122948800-122955600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:122948800-122955800	Weak transcription	Fetal Intestine Small	intestine
10	chr12:122948800-122957000	Weak transcription	Fetal Intestine Large	intestine
11	chr12:122948800-122958000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:122948800-122958000	Weak transcription	Psoas Muscle	Psoas
13	chr12:122949000-122955800	Weak transcription	HSMM	muscle
14	chr12:122949200-122955600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:122949200-122955800	Weak transcription	HepG2	liver
16	chr12:122949600-122955600	Weak transcription	Fetal Muscle Leg	muscle
17	chr12:122949600-122955800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:122949600-122957000	Weak transcription	Lung	lung
19	chr12:122949800-122955600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:122949800-122955600	Weak transcription	A549	lung
21	chr12:122949800-122955600	Weak transcription	NH-A	brain
22	chr12:122949800-122955600	Weak transcription	NHDF-Ad	bronchial
23	chr12:122949800-122955600	Weak transcription	NHLF	lung
24	chr12:122949800-122955800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:122949800-122955800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:122949800-122955800	Weak transcription	Stomach Mucosa	stomach
27	chr12:122949800-122955800	Weak transcription	Osteobl	bone
28	chr12:122949800-122957000	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr12:122949800-122957200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr12:122949800-122957600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:122949800-122958000	Weak transcription	Small Intestine	intestine
32	chr12:122949800-122958200	Weak transcription	Pancreas	Pancrea
33	chr12:122950000-122956000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr12:122951400-122957000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:122951400-122957600	Weak transcription	Fetal Brain Female	brain
36	chr12:122951600-122955200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr12:122951600-122958400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:122951800-122955600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:122951800-122955600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr12:122951800-122955800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:122951800-122957000	Weak transcription	Esophagus	oesophagus
42	chr12:122951800-122957800	Weak transcription	K562	blood
43	chr12:122952000-122957200	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr12:122952400-122957200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:122952400-122957400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:122952800-122954400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:122952800-122955600	Weak transcription	Fetal Kidney	kidney
48	chr12:122952800-122955600	Weak transcription	HMEC	breast
49	chr12:122952800-122955800	Weak transcription	NHEK	skin
50	chr12:122952800-122958000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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