Variant report

Variant	rs17003003
Chromosome Location	chrX:56261025-56261026
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4826308	0.86[YRI][hapmap]
rs5960668	1.00[CEU][hapmap]
rs7056345	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	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:56257200-56261600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chrX:56258000-56261200	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chrX:56258000-56261600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
4	chrX:56258000-56261600	Bivalent/Poised TSS	Fetal Brain Female	brain
5	chrX:56258200-56261200	Active TSS	Rectal Smooth Muscle	rectum
6	chrX:56258200-56261200	Active TSS	Right Atrium	heart
7	chrX:56258200-56261400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chrX:56258200-56261600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chrX:56258200-56261600	Active TSS	Skeletal Muscle Male	skeletal muscle
10	chrX:56258400-56261200	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chrX:56258400-56261200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chrX:56258600-56261200	Active TSS	Adipose Nuclei	Adipose
13	chrX:56258600-56261200	Active TSS	Rectal Mucosa Donor 29	rectum
14	chrX:56258600-56261400	Active TSS	HMEC	breast
15	chrX:56259800-56316200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chrX:56260000-56261200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chrX:56260000-56261400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chrX:56260200-56280600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chrX:56260400-56261200	Weak transcription	Esophagus	oesophagus
20	chrX:56260400-56261600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chrX:56260400-56261600	Active TSS	Stomach Smooth Muscle	stomach
22	chrX:56260400-56262800	Weak transcription	Colonic Mucosa	Colon
23	chrX:56260600-56261200	Active TSS	Brain Germinal Matrix	brain
24	chrX:56260800-56261200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chrX:56260800-56261200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chrX:56260800-56261200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chrX:56260800-56261200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chrX:56260800-56261200	Flanking Active TSS	Fetal Brain Male	brain
29	chrX:56260800-56261200	Enhancers	Fetal Stomach	stomach
30	chrX:56260800-56261200	Enhancers	NHEK	skin
31	chrX:56260800-56261600	Enhancers	Colon Smooth Muscle	Colon
32	chrX:56260800-56262000	Enhancers	Primary B cells from peripheral blood	blood
33	chrX:56261000-56261200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chrX:56261000-56261200	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chrX:56261000-56261400	Enhancers	Ovary	ovary
36	chrX:56261000-56261600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chrX:56261000-56262600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chrX:56261000-56291800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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