Variant report

Variant	rs73971697
Chromosome Location	chr2:174006497-174006498
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:174002531..174005175-chr2:174006407..174008888,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11888193	0.81[AMR][1000 genomes]
rs11901996	0.86[AMR][1000 genomes]
rs35853276	0.89[AMR][1000 genomes]
rs57244347	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6725795	0.86[AMR][1000 genomes]
rs73016810	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73023632	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73033228	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73974103	0.84[AMR][1000 genomes]
rs9941608	0.84[AMR][1000 genomes];0.81[EUR][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	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv834461	chr2:173979734-174038471	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173989600-174007600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:173996600-174012800	Weak transcription	Ovary	ovary
3	chr2:173996600-174013400	Weak transcription	Aorta	Aorta
4	chr2:174001600-174012800	Weak transcription	Left Ventricle	heart
5	chr2:174001600-174013200	Weak transcription	HUVEC	blood vessel
6	chr2:174002000-174010800	Weak transcription	NHLF	lung
7	chr2:174002000-174012800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:174002200-174010200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:174002200-174012800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:174002200-174012800	Weak transcription	Osteobl	bone
11	chr2:174002200-174014600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:174002200-174014600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:174002800-174013000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:174003000-174006800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:174004200-174006800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:174005200-174008000	ZNF genes & repeats	A549	lung
17	chr2:174005400-174006800	Weak transcription	Fetal Intestine Small	intestine
18	chr2:174005400-174007200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:174005400-174008600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:174005600-174012800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:174006000-174006600	ZNF genes & repeats	HMEC	breast
22	chr2:174006000-174006600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
23	chr2:174006000-174007800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:174006000-174008000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:174006400-174006600	ZNF genes & repeats	Fetal Lung	lung

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