Variant report

Variant	rs11175220
Chromosome Location	chr12:64365553-64365554
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:64361242..64364159-chr12:64364503..64367184,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12297618	1.00[AMR][1000 genomes]
rs12306001	1.00[AMR][1000 genomes]
rs12307017	1.00[AMR][1000 genomes]
rs58592474	1.00[AMR][1000 genomes]
rs60392489	1.00[AMR][1000 genomes]
rs61411778	0.92[AFR][1000 genomes];1.00[AMR][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	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv832442	chr12:64228071-64442771	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv559201	chr12:64333212-64366408	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64312400-64385000	Weak transcription	Aorta	Aorta
2	chr12:64360600-64365600	Weak transcription	Small Intestine	intestine
3	chr12:64361800-64371600	Weak transcription	HMEC	breast
4	chr12:64361800-64371800	Weak transcription	NH-A	brain
5	chr12:64362000-64367600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:64362000-64369800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:64362000-64371600	Weak transcription	NHEK	skin
8	chr12:64362400-64367600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:64362600-64371600	Weak transcription	HSMM	muscle
10	chr12:64362600-64371800	Weak transcription	Brain Substantia Nigra	brain
11	chr12:64362600-64371800	Weak transcription	Osteobl	bone
12	chr12:64362600-64385600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:64362800-64366800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:64362800-64367000	Weak transcription	NHDF-Ad	bronchial
15	chr12:64362800-64377600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:64362800-64378800	Weak transcription	Pancreas	Pancrea
17	chr12:64362800-64396000	Weak transcription	Psoas Muscle	Psoas
18	chr12:64363000-64371600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:64363200-64367600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:64363800-64366400	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr12:64364000-64370000	Weak transcription	NHLF	lung
22	chr12:64364200-64366600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:64364200-64367000	Weak transcription	Ovary	ovary
24	chr12:64364200-64367600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:64364200-64376200	Weak transcription	Brain Hippocampus Middle	brain
26	chr12:64364200-64376800	Weak transcription	HSMMtube	muscle
27	chr12:64364200-64385800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:64365000-64365800	Enhancers	Fetal Intestine Small	intestine
29	chr12:64365000-64366800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:64365000-64367000	Weak transcription	A549	lung
31	chr12:64365000-64371400	Weak transcription	Fetal Kidney	kidney
32	chr12:64365000-64375000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:64365000-64383000	Weak transcription	Stomach Mucosa	stomach
34	chr12:64365400-64365800	Enhancers	Sigmoid Colon	Sigmoid Colon

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