Variant report

Variant	rs2485730
Chromosome Location	chrX:138990559-138990560
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12012817	1.00[YRI][hapmap]
rs17002234	0.90[YRI][hapmap]
rs2094702	0.89[YRI][hapmap]
rs2485726	0.90[YRI][hapmap]
rs2485736	1.00[YRI][hapmap]
rs2491008	1.00[YRI][hapmap]
rs2491012	0.90[YRI][hapmap]
rs2497267	0.90[YRI][hapmap]
rs2497279	1.00[YRI][hapmap]
rs4239992	0.85[YRI][hapmap]
rs4824921	1.00[YRI][hapmap]
rs5908666	1.00[YRI][hapmap]
rs7061310	1.00[YRI][hapmap]

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	nsv532936	chrX:138687855-139384681	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
2	nsv491760	chrX:138780768-139283477	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
3	nsv917353	chrX:138912620-139283492	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	146 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:138981600-138991600	Weak transcription	Primary B cells from cord blood	blood
2	chrX:138983600-138991400	Weak transcription	Spleen	Spleen
3	chrX:138985600-138994000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chrX:138985600-138994600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chrX:138986200-139012200	Weak transcription	Fetal Intestine Small	intestine
6	chrX:138987400-138995000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chrX:138988200-138993000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chrX:138988200-138993600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chrX:138988400-138991600	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chrX:138988600-138998000	Weak transcription	Thymus	Thymus
11	chrX:138988600-139006200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chrX:138989400-138992200	Enhancers	Liver	Liver
13	chrX:138989800-138992400	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chrX:138990000-138991800	Enhancers	Monocytes-CD14+_RO01746	blood
15	chrX:138990000-138992600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chrX:138990200-138991000	Weak transcription	Stomach Smooth Muscle	stomach

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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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