Variant report

Variant	rs7595960
Chromosome Location	chr2:234848798-234848799
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	2:234683624-234705119..2:234843685-234852750	Hela-S3	cervix:
2	chr2:234846587..234849218-chr2:234859033..234861096,2	MCF-7	breast:
3	2:234543708-234558325..2:234843685-234852750	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000242515	Chromatin interaction
ENSG00000234143	Chromatin interaction
ENSG00000185038	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1003756	0.91[CHB][hapmap];0.82[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap]
rs1003757	0.86[CEU][hapmap];0.91[CHB][hapmap];0.82[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap]
rs10170647	1.00[CEU][hapmap];0.84[GIH][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes]
rs10180847	0.90[CEU][hapmap];0.91[GIH][hapmap];0.84[EUR][1000 genomes]
rs10490013	1.00[CEU][hapmap];0.84[GIH][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs10803664	1.00[CEU][hapmap]
rs11562975	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs11563212	1.00[CEU][hapmap];0.84[GIH][hapmap]
rs11902618	0.90[EUR][1000 genomes]
rs12466401	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs12476852	1.00[CEU][hapmap];0.84[GIH][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes]
rs17863847	0.88[EUR][1000 genomes]
rs17863851	1.00[CEU][hapmap];0.84[GIH][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes]
rs17864744	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs4497869	1.00[CEU][hapmap];0.87[GIH][hapmap]
rs4663344	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs4663345	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs4663985	1.00[CEU][hapmap];0.87[GIH][hapmap]
rs4663987	0.90[CEU][hapmap];0.91[GIH][hapmap];0.81[TSI][hapmap];0.86[EUR][1000 genomes]
rs4663991	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs62192338	0.86[EUR][1000 genomes]
rs6712540	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs735551	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs735552	0.88[CEU][hapmap];0.91[GIH][hapmap];0.83[EUR][1000 genomes]
rs737635	1.00[CEU][hapmap]
rs7569987	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7577157	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.94[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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	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	nsv876024	chr2:234842650-234856421	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234845400-234851400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:234848000-234849200	Weak transcription	Spleen	Spleen
3	chr2:234848000-234851600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:234848000-234852800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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