Variant report

Variant	rs6688438
Chromosome Location	chr1:173321315-173321316
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	chr1:173321113..173322636-chr1:173324721..173327158,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10399614	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11804254	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1342033	0.88[CHB][hapmap]
rs1342034	0.88[CHB][hapmap]
rs1361648	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1539256	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1539257	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1547811	0.87[CHB][hapmap]
rs16845679	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16845685	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16845722	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16845795	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16845819	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1935325	0.88[CHB][hapmap]
rs1935331	0.88[CHB][hapmap]
rs1985177	0.87[CHB][hapmap]
rs2027500	0.87[CHB][hapmap]
rs2901719	0.88[CHB][hapmap]
rs4258254	0.87[CHB][hapmap]
rs4916334	0.87[CHB][hapmap]
rs4916335	0.87[CHB][hapmap]
rs4916336	0.87[CHB][hapmap]
rs55882207	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56307807	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56309152	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6425221	0.88[CHB][hapmap]
rs7548710	0.87[CHB][hapmap]
rs7550607	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	nsv831915	chr1:173268424-173482157	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv523009	chr1:173305632-173324296	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv946508	chr1:173320660-173321343	ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173300600-173329200	Weak transcription	Primary T cells from cord blood	blood
2	chr1:173309200-173324600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:173311800-173334000	Weak transcription	HSMMtube	muscle
4	chr1:173315200-173333000	Weak transcription	Left Ventricle	heart
5	chr1:173321200-173321400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:173321200-173321600	ZNF genes & repeats	Ovary	ovary

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