Variant report

Variant	rs6978482
Chromosome Location	chr7:117724526-117724527
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:117723247..117725818-chr7:117729549..117731881,2	K562	blood:
2	chr7:117721657..117723565-chr7:117724057..117726501,2	K562	blood:
3	chr7:117721657..117723875-chr7:117724057..117727627,3	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10229271	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487389	1.00[EUR][1000 genomes]
rs10487391	1.00[CEU][hapmap]
rs10487393	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs10487394	0.82[EUR][1000 genomes]
rs1468283	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1468284	0.88[ASN][1000 genomes]
rs16873472	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17140792	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17140796	1.00[ASN][1000 genomes]
rs17140797	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17140886	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17140956	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17140962	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17140972	1.00[EUR][1000 genomes]
rs17141043	1.00[EUR][1000 genomes]
rs17141056	1.00[EUR][1000 genomes]
rs17141102	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs17141104	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs17141125	1.00[EUR][1000 genomes]
rs17141126	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs17141127	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs17141150	0.82[EUR][1000 genomes]
rs2041529	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2041530	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2057684	0.82[EUR][1000 genomes]
rs2057685	0.82[EUR][1000 genomes]
rs2058419	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2109858	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs2402299	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34551547	0.82[EUR][1000 genomes]
rs3757797	1.00[EUR][1000 genomes]
rs3757798	1.00[EUR][1000 genomes]
rs4727860	1.00[EUR][1000 genomes]
rs4730841	0.82[EUR][1000 genomes]
rs55759859	1.00[EUR][1000 genomes]
rs6961495	1.00[EUR][1000 genomes]
rs6972068	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs7786481	0.82[EUR][1000 genomes]

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	nsv869971	chr7:117420583-118274149	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv1026324	chr7:117707746-117734305	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1019337	chr7:117707746-117739400	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1031419	chr7:117708734-117739400	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117721800-117727000	Weak transcription	NHEK	skin
2	chr7:117721800-117727200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:117723600-117726600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:117724200-117725400	Enhancers	H1 Cell Line	embryonic stem cell

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