Variant report

Variant	rs6524946
Chromosome Location	chrX:64139051-64139052
allele	C/T
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:15)

rs_ID	r²[population]
rs12008701	1.00[MEX][hapmap]
rs16989570	1.00[MEX][hapmap]
rs41326649	0.89[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs5964408	1.00[MEX][hapmap]
rs5964893	1.00[MEX][hapmap]
rs5964897	1.00[MEX][hapmap]
rs6418382	0.88[ASW][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.86[YRI][hapmap]
rs6418383	0.88[ASW][hapmap];1.00[MEX][hapmap];0.90[YRI][hapmap]
rs6524947	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap]
rs6653206	1.00[ASW][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs6653207	1.00[YRI][hapmap]
rs7055125	0.88[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[YRI][hapmap]
rs7055159	1.00[ASW][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap]
rs7876526	0.88[ASW][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap]
rs7877430	0.88[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830378	chrX:63523802-64234414	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
2	nsv817451	chrX:64049597-64916072	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:64126200-64143200	Weak transcription	Primary hematopoietic stem cells	blood
2	chrX:64127200-64143000	Weak transcription	Fetal Kidney	kidney
3	chrX:64127600-64143000	Weak transcription	Right Ventricle	heart
4	chrX:64129600-64141600	Weak transcription	Fetal Lung	lung
5	chrX:64132200-64155200	Weak transcription	Small Intestine	intestine
6	chrX:64132400-64143000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chrX:64133000-64141200	Weak transcription	HSMMtube	muscle
8	chrX:64133000-64141400	Weak transcription	Esophagus	oesophagus
9	chrX:64133400-64142000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chrX:64133600-64143200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chrX:64133800-64140800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chrX:64133800-64142400	Strong transcription	Dnd41	blood
13	chrX:64134000-64141400	Weak transcription	Brain Substantia Nigra	brain
14	chrX:64134000-64141800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chrX:64134000-64142600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chrX:64134200-64140000	Weak transcription	Rectal Smooth Muscle	rectum
17	chrX:64134400-64140800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chrX:64134400-64141000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chrX:64134800-64140200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chrX:64135000-64142000	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chrX:64135000-64143000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chrX:64135200-64140800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chrX:64135200-64141400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chrX:64135200-64141800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chrX:64135200-64142600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chrX:64135400-64139800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chrX:64135400-64140400	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chrX:64135400-64142000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chrX:64135600-64141200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chrX:64135600-64143000	Weak transcription	Brain Angular Gyrus	brain
31	chrX:64135600-64143400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chrX:64135800-64143400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chrX:64136000-64141000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chrX:64136000-64146200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chrX:64136400-64139200	Strong transcription	Spleen	Spleen
36	chrX:64136400-64140200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chrX:64136400-64140200	Strong transcription	Fetal Muscle Leg	muscle
38	chrX:64136400-64140600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chrX:64136400-64140800	Strong transcription	Fetal Stomach	stomach
40	chrX:64136600-64142000	Strong transcription	H1 Cell Line	embryonic stem cell
41	chrX:64136800-64139200	Weak transcription	HepG2	liver
42	chrX:64136800-64140000	Strong transcription	Lung	lung
43	chrX:64136800-64140200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chrX:64136800-64140400	Strong transcription	Fetal Muscle Trunk	muscle
45	chrX:64137000-64139400	Strong transcription	Duodenum Mucosa	Duodenum
46	chrX:64137000-64140200	Strong transcription	Left Ventricle	heart
47	chrX:64137200-64143400	Weak transcription	Fetal Intestine Small	intestine
48	chrX:64137400-64139200	Weak transcription	Brain Anterior Caudate	brain
49	chrX:64137400-64139600	Weak transcription	Fetal Brain Female	brain
50	chrX:64137400-64139800	Strong transcription	Primary B cells from peripheral blood	blood

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