Variant report

Variant	rs11175223
Chromosome Location	chr12:64374912-64374913
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr12:64374812-64374943	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
SRGAP1	TF binding region

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11175222	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11175224	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12296441	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297450	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12302441	1.00[AMR][1000 genomes]
rs12305930	1.00[AMR][1000 genomes]
rs12312286	1.00[AMR][1000 genomes]
rs12313251	1.00[AMR][1000 genomes]
rs12315032	1.00[AMR][1000 genomes]
rs12316287	1.00[AMR][1000 genomes]
rs12318085	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64312400-64385000	Weak transcription	Aorta	Aorta
2	chr12:64362600-64385600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:64362800-64377600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:64362800-64378800	Weak transcription	Pancreas	Pancrea
5	chr12:64362800-64396000	Weak transcription	Psoas Muscle	Psoas
6	chr12:64364200-64376200	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:64364200-64376800	Weak transcription	HSMMtube	muscle
8	chr12:64364200-64385800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:64365000-64375000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:64365000-64383000	Weak transcription	Stomach Mucosa	stomach
11	chr12:64365800-64378600	Weak transcription	Fetal Intestine Small	intestine
12	chr12:64365800-64379400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:64366400-64383600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr12:64368000-64376000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:64370800-64384400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:64371800-64385800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:64372000-64383200	Weak transcription	Fetal Kidney	kidney
18	chr12:64372200-64375200	Weak transcription	Adipose Nuclei	Adipose
19	chr12:64372400-64376600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:64372400-64382000	Weak transcription	HSMM	muscle
21	chr12:64372600-64375400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:64372600-64376200	Weak transcription	Brain Substantia Nigra	brain
23	chr12:64372800-64376400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:64372800-64376400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr12:64372800-64380600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:64373600-64376600	Weak transcription	Osteobl	bone
27	chr12:64373800-64375200	Weak transcription	NHLF	lung
28	chr12:64373800-64376200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:64373800-64383000	Weak transcription	HMEC	breast
30	chr12:64374000-64376400	Weak transcription	Ovary	ovary
31	chr12:64374000-64376800	Weak transcription	NH-A	brain
32	chr12:64374000-64377000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:64374000-64377200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:64374200-64375200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:64374200-64376200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:64374200-64376400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr12:64374400-64377600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:64374400-64377800	Weak transcription	NHEK	skin
39	chr12:64374400-64379000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:64374600-64375400	Enhancers	NHDF-Ad	bronchial
41	chr12:64374600-64376400	Weak transcription	A549	lung
42	chr12:64374600-64378600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:64374800-64375200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:64374800-64375400	Enhancers	Brain Germinal Matrix	brain
45	chr12:64374800-64375600	Enhancers	Hela-S3	cervix
46	chr12:64374800-64376200	Enhancers	Cortex derived primary cultured neurospheres	brain

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