Variant report

Variant	rs5028311
Chromosome Location	chr2:212363969-212363970
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	chr1:203274022..203274758-chr2:212363047..212363985,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159388	Chromatin interaction
ENSG00000233791	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10932377	0.91[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs10932378	0.91[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs11901429	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12052273	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12052288	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12052398	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12053015	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12053361	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12105797	0.91[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs12105807	0.91[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs12620169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12621088	0.91[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs12988861	0.88[ASN][1000 genomes]
rs12989342	0.91[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs12989448	0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13003469	0.87[ASN][1000 genomes]
rs13003758	0.87[ASN][1000 genomes]
rs13005140	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13010155	0.91[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs13028321	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13028369	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13032896	0.89[ASN][1000 genomes]
rs1851186	0.87[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs1851189	0.86[CHB][hapmap]
rs34155527	0.80[ASN][1000 genomes]
rs34303637	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34478465	0.80[ASN][1000 genomes]
rs34672401	0.87[ASN][1000 genomes]
rs34777036	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34856830	0.87[ASN][1000 genomes]
rs34880852	0.81[ASN][1000 genomes]
rs34940919	0.90[ASN][1000 genomes]
rs35085917	0.87[ASN][1000 genomes]
rs35145864	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35234212	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35695627	0.80[ASN][1000 genomes]
rs35785239	0.86[ASN][1000 genomes]
rs36125039	0.80[ASN][1000 genomes]
rs4131610	0.91[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs4233983	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4233984	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4305210	0.91[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs4358067	0.91[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs4561599	0.91[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs4616415	0.90[ASN][1000 genomes]
rs4640327	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4672615	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4672616	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4672617	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.85[YRI][hapmap];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4672618	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.98[ASN][1000 genomes]
rs4673621	0.87[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs6435629	0.87[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs67141123	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6741097	0.83[ASN][1000 genomes]
rs6746949	0.91[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs6751135	0.95[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000722	chr2:212272622-212465143	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv460067	chr2:212313400-212378242	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv584317	chr2:212313400-212378242	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv2753335	chr2:212322858-212424019	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv875779	chr2:212340740-212415948	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv875780	chr2:212350245-212415948	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv1010811	chr2:212350641-212416215	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv584318	chr2:212351667-212412738	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv528570	chr2:212351667-212413675	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv875781	chr2:212351667-212418110	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv470512	chr2:212351667-212428192	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv999487	chr2:212352672-212414582	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv1013164	chr2:212352672-212416215	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv460068	chr2:212355500-212428192	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv584319	chr2:212355500-212428192	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	esv2830116	chr2:212356992-212407077	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	nsv998427	chr2:212362134-212414582	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv1006545	chr2:212362134-212419865	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212362000-212365400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:212362200-212364000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:212362800-212368600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:212363200-212364000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:212363200-212364000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr2:212363200-212364000	Enhancers	Brain Cingulate Gyrus	brain
7	chr2:212363200-212364000	Enhancers	Brain Substantia Nigra	brain
8	chr2:212363400-212364000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:212363800-212364000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:212363800-212364000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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