Variant report

No.	Distal block	Cell Line	Cell type
1	7:126363704-126365622..7:127070190-127076279	Hela-S3	cervix:
2	chr7:126354910..126358134-chr7:126363262..126365444,3	K562	blood:
3	chr7:126354910..126357333-chr7:126363262..126365444,2	K562	blood:
4	chr7:126363919..126365530-chr7:126368922..126370814,2	K562	blood:

Variant related genes	Relation type
ENSG00000048405	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10224336	1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10225708	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1024417	0.89[YRI][hapmap];0.91[AFR][1000 genomes]
rs1024418	0.88[YRI][hapmap];0.93[AFR][1000 genomes]
rs1345210	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1361991	1.00[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs17613247	1.00[CEU][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs17683462	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[TSI][hapmap]
rs17683715	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap]
rs17684388	1.00[CHB][hapmap]
rs17691394	0.92[TSI][hapmap];0.87[EUR][1000 genomes]
rs2299498	0.92[LWK][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes]
rs28693977	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3808152	0.80[YRI][hapmap]
rs3824011	0.92[AFR][1000 genomes]
rs4728048	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4728051	0.89[YRI][hapmap];0.89[AFR][1000 genomes]
rs60676251	1.00[ASN][1000 genomes]
rs61347840	1.00[ASN][1000 genomes]
rs6467093	1.00[CHB][hapmap]
rs6467094	1.00[CHB][hapmap]
rs6974164	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529300	chr7:125669493-126587858	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1032938	chr7:126067684-126587859	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv539119	chr7:126067684-126587859	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv889187	chr7:126219766-126478190	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10240139	CPA1	cis	parietal	SCAN
rs10240139	TMEM209	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126342000-126367800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:126363800-126364600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:126363800-126364600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:126363800-126364800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:126364000-126364600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr7:126364000-126364800	Enhancers	Cortex derived primary cultured neurospheres	brain

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