Variant report

Variant	rs7054751
Chromosome Location	chrX:80048998-80048999
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12689192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16979519	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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	nsv916218	chrX:79377399-80230929	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv33127	chrX:79989618-80370141	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv934278	chrX:80047145-80049047	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:80019400-80055000	Weak transcription	Primary T cells from cord blood	blood
2	chrX:80020000-80063000	Weak transcription	Thymus	Thymus
3	chrX:80020200-80063600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chrX:80020800-80062800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chrX:80021000-80062600	Weak transcription	A549	lung
6	chrX:80021200-80063000	Weak transcription	Osteobl	bone
7	chrX:80022600-80063600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chrX:80022800-80063000	Weak transcription	Fetal Intestine Small	intestine
9	chrX:80025600-80063000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chrX:80026200-80061400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chrX:80028600-80049600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chrX:80028600-80063000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chrX:80032400-80063000	Weak transcription	Primary hematopoietic stem cells	blood
14	chrX:80032400-80063000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chrX:80032600-80062800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chrX:80034200-80062600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chrX:80035400-80062800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chrX:80036600-80062600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chrX:80036800-80062000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chrX:80037200-80062600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chrX:80037800-80054200	Weak transcription	Fetal Thymus	thymus
22	chrX:80038200-80062800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chrX:80039200-80049400	Weak transcription	NH-A	brain
24	chrX:80039800-80063000	Weak transcription	Brain Germinal Matrix	brain
25	chrX:80040000-80054400	Weak transcription	Fetal Stomach	stomach
26	chrX:80040000-80055400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chrX:80040000-80063000	Weak transcription	Duodenum Mucosa	Duodenum
28	chrX:80040200-80062800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chrX:80041400-80063000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chrX:80041800-80062600	Weak transcription	Fetal Intestine Large	intestine
31	chrX:80042000-80049200	Weak transcription	Fetal Lung	lung
32	chrX:80042200-80062400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chrX:80042800-80052200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chrX:80042800-80054600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chrX:80043000-80052600	Weak transcription	Fetal Kidney	kidney
36	chrX:80043400-80055400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chrX:80043600-80055600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chrX:80044000-80054600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chrX:80044000-80063000	Weak transcription	HSMM	muscle
40	chrX:80044400-80062800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chrX:80044600-80052400	Weak transcription	GM12878-XiMat	blood
42	chrX:80044800-80062600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chrX:80044800-80063000	Weak transcription	NHLF	lung
44	chrX:80044800-80063600	Weak transcription	Lung	lung
45	chrX:80046200-80058200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chrX:80046200-80062000	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chrX:80047000-80051200	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chrX:80047000-80063000	Weak transcription	Primary T cells fromperipheralblood	blood
49	chrX:80047400-80051000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chrX:80047400-80051000	Weak transcription	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links