Variant report

Variant	rs1263243
Chromosome Location	chrX:73563219-73563220
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chrX:73562956-73563657	PBDE	blood:	n/a	chrX:73562958-73562965
2	TEAD4	chrX:73563150-73563473	K562	blood:	n/a	n/a
3	NR2F2	chrX:73563212-73563460	K562	blood:	n/a	n/a
4	CTCF	chrX:73563180-73564565	SK-N-SH	brain:	n/a	n/a
5	TAL1	chrX:73563110-73563554	K562	blood:	n/a	n/a
6	EP300	chrX:73563209-73563506	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000226515	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10855819	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs1151599	1.00[JPT][hapmap]
rs1151602	1.00[JPT][hapmap]
rs1263240	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1263244	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1263259	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs12835261	1.00[JPT][hapmap]
rs1341326	1.00[JPT][hapmap]
rs174164	1.00[JPT][hapmap]
rs2066449	1.00[JPT][hapmap]
rs34974916	0.94[CEU][hapmap]
rs473645	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs486337	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs486485	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs499282	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs527480	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs557647	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs575348	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs5937811	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs5981268	1.00[JPT][hapmap]
rs5981594	1.00[JPT][hapmap]
rs5981595	1.00[JPT][hapmap]
rs5981614	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	esv3364045	chrX:72896383-73699363	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	301 gene(s)	inside rSNPs	diseases
2	nsv916758	chrX:73546406-74420929	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv520605	chrX:73549327-73569476	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:73562400-73563600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chrX:73562600-73564200	Enhancers	Stomach Mucosa	stomach
3	chrX:73562600-73564600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chrX:73562800-73563400	Enhancers	A549	lung
5	chrX:73562800-73563600	Enhancers	Duodenum Mucosa	Duodenum
6	chrX:73562800-73564600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chrX:73562800-73564600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chrX:73562800-73564600	Enhancers	Hela-S3	cervix
9	chrX:73563000-73563600	Enhancers	NHDF-Ad	bronchial
10	chrX:73563000-73563800	Enhancers	HUVEC	blood vessel
11	chrX:73563200-73563600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chrX:73563200-73563600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chrX:73563200-73563800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chrX:73563200-73563800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chrX:73563200-73563800	Enhancers	NH-A	brain
16	chrX:73563200-73564000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chrX:73563200-73564000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chrX:73563200-73564400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chrX:73563200-73564600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chrX:73563200-73564600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chrX:73563200-73564600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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