Variant report

Variant	rs2191730
Chromosome Location	chr7:78684049-78684050
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:78677390..78680466-chr7:78680728..78684116,3	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10224582	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs12540352	0.83[CHB][hapmap]
rs12540925	0.81[CHB][hapmap]
rs17151881	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs2006635	0.82[CHB][hapmap]
rs2098180	0.81[CHB][hapmap]
rs4437570	0.94[EUR][1000 genomes]
rs4727794	0.81[CHB][hapmap]
rs5004248	0.81[CHB][hapmap]
rs6946707	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6954088	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs6958348	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6962482	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs6964007	0.80[CHB][hapmap]
rs6978423	0.94[EUR][1000 genomes]
rs727652	0.81[CHB][hapmap]
rs7778014	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7779315	0.81[CHB][hapmap]
rs7789063	0.81[CHB][hapmap]
rs985175	0.85[CHB][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv482826	chr7:78548319-78717605	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv471642	chr7:78548320-78717605	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1029799	chr7:78608097-79061737	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv831040	chr7:78623195-78831998	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78680200-78685000	Weak transcription	Ovary	ovary
2	chr7:78680400-78685400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:78680600-78685200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:78680600-78685200	Weak transcription	NHEK	skin
5	chr7:78680800-78685000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:78680800-78685000	Weak transcription	HMEC	breast
7	chr7:78680800-78690800	Weak transcription	Brain Substantia Nigra	brain
8	chr7:78681800-78685600	Weak transcription	Brain Hippocampus Middle	brain
9	chr7:78684000-78684800	Weak transcription	Fetal Kidney	kidney

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