Variant report

Variant	rs73264008
Chromosome Location	chr12:10770504-10770505
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	MYC	chr12:10770427-10771551	K562	blood:	n/a	chr12:10771160-10771169
2	CEBPB	chr12:10770468-10770725	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10770221..10774557-chr12:10774772..10778392,5	K562	blood:

Variant related genes	Relation type
MAGOHB	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57880649	0.84[AFR][1000 genomes]
rs7300889	0.84[AFR][1000 genomes]
rs73256090	0.84[AFR][1000 genomes]
rs73257978	0.81[AFR][1000 genomes]
rs73264007	0.96[AFR][1000 genomes]
rs73264011	0.88[AFR][1000 genomes]
rs73264018	0.88[AFR][1000 genomes]
rs73264045	0.84[AFR][1000 genomes]
rs7957167	0.81[AFR][1000 genomes]
rs7966052	0.84[AFR][1000 genomes]
rs7975199	0.81[AFR][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	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10766600-10787000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:10766600-10789400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:10766600-10794400	Weak transcription	Gastric	stomach
4	chr12:10766800-10771400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:10766800-10789400	Weak transcription	Esophagus	oesophagus
6	chr12:10767000-10770600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:10767000-10770600	Weak transcription	NHLF	lung
8	chr12:10767000-10772400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:10767000-10772400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:10767000-10778400	Weak transcription	Colonic Mucosa	Colon
11	chr12:10767200-10770600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:10767200-10770600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:10767200-10770600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:10767200-10770600	Weak transcription	NH-A	brain
15	chr12:10767200-10770800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:10767200-10771200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr12:10767200-10772000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr12:10767200-10772200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr12:10767200-10775000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr12:10767200-10780600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:10767200-10781200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:10767400-10772400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:10767600-10776800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:10769600-10772400	Enhancers	NHDF-Ad	bronchial
25	chr12:10770000-10772000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:10770000-10772400	Enhancers	HSMM	muscle
27	chr12:10770200-10770600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr12:10770200-10771600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:10770200-10772000	Enhancers	NHEK	skin
30	chr12:10770200-10772400	Enhancers	HMEC	breast
31	chr12:10770200-10773000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:10770200-10774600	Enhancers	HSMMtube	muscle
33	chr12:10770400-10770800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:10770400-10771600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:10770400-10771600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:10770400-10771600	Enhancers	A549	lung
37	chr12:10770400-10771600	Enhancers	K562	blood
38	chr12:10770400-10771800	Genic enhancers	HUVEC	blood vessel
39	chr12:10770400-10771800	Enhancers	Osteobl	bone
40	chr12:10770400-10772000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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