Variant report

Variant	rs2982748
Chromosome Location	chr6:73449202-73449203
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2144088	1.00[JPT][hapmap]
rs2179954	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2207264	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2226135	1.00[CEU][hapmap]
rs2840791	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2982749	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs7748934	1.00[CEU][hapmap]
rs9446773	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023809	chr6:73157813-73477997	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv538303	chr6:73157813-73477997	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830689	chr6:73385557-73544404	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv830690	chr6:73391428-73574304	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv886154	chr6:73442239-73471683	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73437800-73455200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:73438400-73455400	Weak transcription	HMEC	breast
3	chr6:73443200-73455400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:73447800-73449600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:73448000-73450200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:73448400-73451800	Enhancers	Primary B cells from peripheral blood	blood
7	chr6:73448600-73449800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr6:73448800-73450000	Enhancers	Primary hematopoietic stem cells	blood
9	chr6:73448800-73450000	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr6:73448800-73450200	Enhancers	Primary T cells from cord blood	blood
11	chr6:73448800-73450800	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr6:73449000-73450200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr6:73449000-73450400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr6:73449200-73449600	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr6:73449200-73449600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:73449200-73449600	Active TSS	GM12878-XiMat	blood
17	chr6:73449200-73450200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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