Variant report

Variant	rs762514
Chromosome Location	chrX:153675233-153675234
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chrX:153675070-153675667	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chrX:153675184-153676691	HepG2	liver:	n/a	n/a
3	POLR2A	chrX:153675022-153676266	K562	blood:	n/a	n/a
4	POLR2A	chrX:153674852-153675875	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chrX:153624495..153633022-chrX:153668916..153678988,23	K562	blood:
2	chrX:153672494..153675692-chrX:153724715..153727069,3	K562	blood:
3	chrX:153624113..153628937-chrX:153667362..153675322,17	MCF-7	breast:
4	chrX:153674318..153677222-chrX:153712203..153714813,3	K562	blood:
5	chrX:153597351..153599254-chrX:153674693..153677057,2	K562	blood:
6	chrX:153597889..153602863-chrX:153674100..153678441,6	MCF-7	breast:
7	chrX:153635709..153642538-chrX:153670680..153677148,19	MCF-7	breast:
8	chrX:153629574..153632888-chrX:153673658..153677156,4	MCF-7	breast:

No data

Variant related genes	Relation type
FAM50A	TF binding region
ENSG00000102125	Chromatin interaction
ENSG00000102178	Chromatin interaction
ENSG00000207165	Chromatin interaction
ENSG00000013563	Chromatin interaction
ENSG00000196924	Chromatin interaction
ENSG00000264631	Chromatin interaction
ENSG00000147403	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11593	1.00[CEU][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap]
rs12559	1.00[CEU][hapmap]
rs12877	1.00[CEU][hapmap]
rs2051508	1.00[CEU][hapmap];0.83[GIH][hapmap];0.83[TSI][hapmap]
rs2070643	1.00[CHB][hapmap]
rs2070807	1.00[CEU][hapmap];0.94[GIH][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap]
rs2070819	1.00[CEU][hapmap]
rs2070821	1.00[CEU][hapmap]
rs2070825	1.00[CEU][hapmap]
rs2070827	1.00[CEU][hapmap]
rs2070829	1.00[CEU][hapmap]
rs2097214	1.00[CEU][hapmap]
rs2156911	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.89[MEX][hapmap];0.85[TSI][hapmap]
rs2239469	1.00[CEU][hapmap]
rs2283762	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs28602900	1.00[CEU][hapmap];0.94[GIH][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap]
rs4898484	1.00[CEU][hapmap]
rs4898494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.89[MEX][hapmap];0.85[TSI][hapmap]
rs6727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs743548	1.00[CEU][hapmap];0.83[GIH][hapmap];0.85[TSI][hapmap]
rs743549	1.00[CEU][hapmap];0.83[GIH][hapmap];0.85[TSI][hapmap]
rs7886627	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs915941	1.00[CEU][hapmap]
rs915942	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33199	chrX:152864376-153820241	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	276 gene(s)	inside rSNPs	diseases
2	nsv528291	chrX:152864376-153827637	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	277 gene(s)	inside rSNPs	diseases
3	nsv915605	chrX:153333946-153783638	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
4	nsv519042	chrX:153348431-153829693	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
5	nsv532962	chrX:153564946-153870337	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	199 gene(s)	inside rSNPs	diseases
6	nsv532963	chrX:153576890-153822717	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	195 gene(s)	inside rSNPs	diseases
7	nsv530281	chrX:153622940-153783184	Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
8	nsv532964	chrX:153622940-153854307	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:153660400-153679800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chrX:153665600-153680000	ZNF genes & repeats	Fetal Brain Female	brain
3	chrX:153666400-153675800	ZNF genes & repeats	Fetal Stomach	stomach
4	chrX:153667400-153681200	Weak transcription	Fetal Kidney	kidney
5	chrX:153673000-153679800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chrX:153673200-153675800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chrX:153673200-153677000	Weak transcription	Aorta	Aorta
8	chrX:153673200-153678800	Weak transcription	Small Intestine	intestine
9	chrX:153673200-153684200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chrX:153673200-153686800	Weak transcription	Fetal Lung	lung
11	chrX:153673400-153675800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
12	chrX:153673400-153676200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chrX:153673400-153676600	Weak transcription	Brain Germinal Matrix	brain
14	chrX:153673400-153676800	Weak transcription	Thymus	Thymus
15	chrX:153673400-153677000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chrX:153673400-153677800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chrX:153673400-153678400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chrX:153673400-153685800	Weak transcription	Primary hematopoietic stem cells	blood
19	chrX:153673400-153685800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chrX:153673600-153675400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chrX:153673600-153676000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chrX:153673600-153676400	Weak transcription	Esophagus	oesophagus
23	chrX:153673600-153676600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chrX:153673600-153676600	Weak transcription	Brain Anterior Caudate	brain
25	chrX:153673600-153677000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chrX:153673600-153677000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chrX:153673600-153677200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chrX:153673600-153677200	Weak transcription	Fetal Thymus	thymus
29	chrX:153673600-153681000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chrX:153673600-153685800	Weak transcription	Psoas Muscle	Psoas
31	chrX:153673800-153676200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chrX:153673800-153676800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chrX:153673800-153676800	Weak transcription	Liver	Liver
34	chrX:153673800-153679200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chrX:153673800-153685600	Weak transcription	Primary B cells from cord blood	blood
36	chrX:153673800-153685600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chrX:153673800-153685800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chrX:153673800-153685800	Weak transcription	HepG2	liver
39	chrX:153673800-153685800	Weak transcription	HSMM	muscle
40	chrX:153673800-153686000	Weak transcription	HSMMtube	muscle
41	chrX:153673800-153686800	Weak transcription	Stomach Mucosa	stomach
42	chrX:153674000-153675400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chrX:153674000-153675800	Genic enhancers	Placenta	Placenta
44	chrX:153674000-153675800	Genic enhancers	Pancreas	Pancrea
45	chrX:153674000-153675800	Genic enhancers	Spleen	Spleen
46	chrX:153674000-153676000	Strong transcription	NHLF	lung
47	chrX:153674000-153676800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chrX:153674000-153676800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chrX:153674000-153677000	Weak transcription	Primary B cells from peripheral blood	blood
50	chrX:153674000-153677400	Weak transcription	Colon Smooth Muscle	Colon

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