Variant report

Variant	rs1033565
Chromosome Location	chrX:56291516-56291517
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12862304	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs2375630	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap]
rs2375631	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap]
rs3747284	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs4826308	0.86[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap]
rs5913918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5960155	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs5960669	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs6521375	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap]
rs6521376	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap];0.80[TSI][hapmap]
rs6611493	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs6612506	0.93[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][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	esv2752678	chrX:55930768-56851953	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2753382	chrX:55930768-56851953	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2754448	chrX:55930768-56851953	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2755974	chrX:55930768-56851953	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS 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 miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv432333	chrX:55930768-56851953	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:56259800-56316200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chrX:56261000-56291800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chrX:56261600-56291600	Weak transcription	Esophagus	oesophagus
4	chrX:56269400-56320200	Weak transcription	Brain Germinal Matrix	brain
5	chrX:56270800-56291800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chrX:56273400-56291600	Weak transcription	Primary B cells from peripheral blood	blood
7	chrX:56275000-56305400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chrX:56275000-56316200	Weak transcription	Colon Smooth Muscle	Colon
9	chrX:56275400-56296000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chrX:56279200-56310800	Weak transcription	Aorta	Aorta
11	chrX:56279400-56316800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chrX:56280400-56320000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chrX:56281400-56291600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chrX:56281400-56291600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chrX:56281400-56291600	Weak transcription	Lung	lung
16	chrX:56281400-56291800	Weak transcription	Ovary	ovary
17	chrX:56286000-56336600	Weak transcription	Left Ventricle	heart
18	chrX:56287400-56294200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chrX:56287800-56291600	Weak transcription	Fetal Stomach	stomach
20	chrX:56288600-56291800	Weak transcription	Adipose Nuclei	Adipose
21	chrX:56288800-56295800	Weak transcription	Stomach Smooth Muscle	stomach
22	chrX:56289600-56305600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chrX:56290000-56293400	Weak transcription	Spleen	Spleen
24	chrX:56290200-56298400	Weak transcription	Rectal Smooth Muscle	rectum
25	chrX:56290200-56299400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chrX:56290200-56314400	Weak transcription	Fetal Intestine Small	intestine
27	chrX:56290400-56296000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chrX:56290600-56293200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chrX:56290800-56293000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chrX:56290800-56293200	Weak transcription	Fetal Intestine Large	intestine
31	chrX:56290800-56297600	Weak transcription	Fetal Brain Female	brain
32	chrX:56291000-56312400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chrX:56291200-56292400	Enhancers	HUVEC	blood vessel

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