Variant report

Variant	rs2216320
Chromosome Location	chr2:205592316-205592317
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:205591038..205592636-chr2:205700009..205701787,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10177328	0.89[ASN][1000 genomes]
rs10208062	0.91[ASN][1000 genomes]
rs10432519	0.89[ASN][1000 genomes]
rs10490269	0.89[ASN][1000 genomes]
rs10490270	0.89[ASN][1000 genomes]
rs10932083	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11883548	1.00[AMR][1000 genomes]
rs11887897	1.00[AMR][1000 genomes]
rs11897822	0.88[ASN][1000 genomes]
rs11901243	1.00[AMR][1000 genomes]
rs13431268	0.88[ASN][1000 genomes]
rs16836450	1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs17595154	0.87[ASN][1000 genomes]
rs17595168	0.84[ASN][1000 genomes]
rs17595196	0.88[ASN][1000 genomes]
rs17595210	0.88[ASN][1000 genomes]
rs17595217	0.88[ASN][1000 genomes]
rs17595238	0.88[ASN][1000 genomes]
rs17595379	0.89[ASN][1000 genomes]
rs17637976	0.88[ASN][1000 genomes]
rs17637988	0.88[ASN][1000 genomes]
rs17638005	0.88[ASN][1000 genomes]
rs17638018	0.88[ASN][1000 genomes]
rs17638036	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs41425446	0.89[ASN][1000 genomes]
rs41440444	0.89[ASN][1000 genomes]
rs41511746	0.88[ASN][1000 genomes]
rs57526221	0.85[ASN][1000 genomes]
rs57991840	0.89[ASN][1000 genomes]
rs58748975	0.91[ASN][1000 genomes]
rs58798694	0.80[ASN][1000 genomes]
rs58870976	0.88[ASN][1000 genomes]
rs59978061	1.00[AMR][1000 genomes]
rs60179096	1.00[AMR][1000 genomes]
rs61014400	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6731832	1.00[AMR][1000 genomes]
rs6751997	0.89[ASN][1000 genomes]
rs73059006	1.00[AMR][1000 genomes]
rs73059007	1.00[AMR][1000 genomes]
rs73059010	1.00[AMR][1000 genomes]
rs73059013	1.00[AMR][1000 genomes]
rs73059018	1.00[AMR][1000 genomes]
rs73984246	1.00[AMR][1000 genomes]
rs73984251	1.00[AMR][1000 genomes]
rs73984286	1.00[ASN][1000 genomes]
rs7562459	0.88[ASN][1000 genomes]
rs7577949	1.00[AMR][1000 genomes]
rs7584529	0.89[ASN][1000 genomes]
rs7595278	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875723	chr2:205489653-205612846	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv584243	chr2:205539092-205630618	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv2757846	chr2:205539832-205841174	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv2759111	chr2:205539832-205841174	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv875724	chr2:205572718-205727222	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv875725	chr2:205572718-205760800	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv875726	chr2:205588773-205700834	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205557200-205595600	Weak transcription	Aorta	Aorta
2	chr2:205572200-205596600	Weak transcription	HSMM	muscle
3	chr2:205572200-205597000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:205580800-205595400	Weak transcription	Fetal Lung	lung
5	chr2:205587600-205596600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:205590000-205592800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:205590200-205592600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr2:205591000-205592400	Enhancers	Fetal Intestine Small	intestine
9	chr2:205591000-205592600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:205591200-205593800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:205591400-205592400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:205591400-205592400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:205591400-205592400	Enhancers	Stomach Mucosa	stomach
14	chr2:205591600-205592800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:205591600-205593800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:205591800-205592600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:205592000-205592400	Weak transcription	HSMMtube	muscle
18	chr2:205592000-205593200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:205592200-205592400	Enhancers	Pancreas	Pancrea
20	chr2:205592200-205592400	Enhancers	Psoas Muscle	Psoas
21	chr2:205592200-205592800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr2:205592200-205592800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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