Variant report

Variant	rs197043
Chromosome Location	chrX:109979091-109979092
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1480835	0.89[YRI][hapmap]
rs1480837	0.88[YRI][hapmap]
rs1738425	1.00[YRI][hapmap]
rs2896778	1.00[YRI][hapmap]
rs2982578	0.88[YRI][hapmap]
rs5943063	0.89[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817233	chrX:109693720-110244649	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:109942600-110008200	Weak transcription	Primary hematopoietic stem cells	blood
2	chrX:109975600-109979400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chrX:109975600-109979800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chrX:109975600-109980400	Enhancers	NHDF-Ad	bronchial
5	chrX:109976600-109984000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chrX:109977400-109979400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chrX:109977600-109979400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chrX:109977600-109979400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chrX:109978000-109979400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chrX:109978400-109979400	Enhancers	NHLF	lung
11	chrX:109978600-109979400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chrX:109978600-109979400	Enhancers	H9 Cell Line	embryonic stem cell
13	chrX:109978600-109989000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chrX:109978800-109986200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chrX:109978800-109986600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chrX:109979000-109979400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chrX:109979000-109983600	Weak transcription	HMEC	breast
18	chrX:109979000-109984200	Weak transcription	NH-A	brain

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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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