Variant report

Variant	rs73124593
Chromosome Location	chr2:234938461-234938462
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11563217	1.00[AMR][1000 genomes]
rs28900717	1.00[AMR][1000 genomes]
rs28901624	1.00[AMR][1000 genomes]
rs28901648	1.00[AMR][1000 genomes]
rs28902171	1.00[AMR][1000 genomes]
rs28902178	1.00[AMR][1000 genomes]
rs28902477	1.00[AMR][1000 genomes]
rs28946906	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv834571	chr2:234929288-235110332	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv460138	chr2:234933559-234944043	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv584709	chr2:234933559-234944043	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv522778	chr2:234933630-234944043	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv524821	chr2:234933630-234944043	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	n/a
8	nsv470524	chr2:234933630-234944043	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
9	nsv584710	chr2:234933630-234945670	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
10	nsv584711	chr2:234934186-234945105	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
11	esv2760543	chr2:234938082-234955890	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234934600-234939600	Weak transcription	NHEK	skin
2	chr2:234934600-234940800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:234934800-234939600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:234934800-234942400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:234935600-234940000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:234935800-234939600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:234935800-234940400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr2:234935800-234940400	Weak transcription	HUVEC	blood vessel
9	chr2:234935800-234940800	Weak transcription	HSMM	muscle
10	chr2:234936600-234939600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:234937000-234939200	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:234937200-234939000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:234937200-234939400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr2:234937400-234939600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr2:234937400-234939800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr2:234937600-234939400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr2:234937600-234939600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:234937800-234942200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:234938000-234938600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:234938000-234938600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr2:234938000-234938800	Enhancers	NHDF-Ad	bronchial
22	chr2:234938000-234942000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:234938200-234939400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:234938400-234938800	Enhancers	A549	lung
25	chr2:234938400-234939800	Weak transcription	HMEC	breast
26	chr2:234938400-234940000	Weak transcription	NH-A	brain

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