Variant report

Variant	rs755498
Chromosome Location	chr12:10774320-10774321
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:10771877..10773786-chr12:10773916..10777458,3	K562	blood:
2	chr12:10765155..10768386-chr12:10770513..10774457,4	MCF-7	breast:
3	chr12:10770221..10774557-chr12:10774772..10778392,5	K562	blood:

Variant related genes	Relation type
ENSG00000111196	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10743911	0.95[ASN][1000 genomes]
rs10845184	0.88[ASN][1000 genomes]
rs10845185	0.96[ASN][1000 genomes]
rs11053881	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11053882	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12306757	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12306815	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1870194	0.96[ASN][1000 genomes]
rs2219382	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2900467	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3759264	0.93[ASN][1000 genomes]
rs3759265	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3782674	0.99[ASN][1000 genomes]
rs7312261	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs897880	0.96[ASN][1000 genomes]
rs897882	0.83[EUR][1000 genomes];0.99[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	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:31 , 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	chr12:10766800-10789400	Weak transcription	Esophagus	oesophagus
5	chr12:10767000-10778400	Weak transcription	Colonic Mucosa	Colon
6	chr12:10767200-10775000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr12:10767200-10780600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr12:10767200-10781200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:10767600-10776800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:10770200-10774600	Enhancers	HSMMtube	muscle
11	chr12:10770600-10777600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:10771200-10776000	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr12:10771400-10782200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:10771600-10775800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:10771800-10775400	Strong transcription	HUVEC	blood vessel
16	chr12:10771800-10775600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:10772000-10775200	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr12:10772000-10775400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr12:10772000-10787200	Weak transcription	NHEK	skin
20	chr12:10772200-10774600	Strong transcription	Placenta Amnion	Placenta Amnion
21	chr12:10772400-10774600	Weak transcription	NHDF-Ad	bronchial
22	chr12:10772400-10775800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:10772400-10780600	Weak transcription	HMEC	breast
24	chr12:10773000-10775200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:10773000-10777200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:10773000-10780200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr12:10773000-10786600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr12:10773000-10787000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:10773200-10776600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:10773400-10787000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:10774000-10775000	Enhancers	HSMM	muscle

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