Variant report

Variant	rs12008913
Chromosome Location	chrX:138282537-138282538
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chrX:138272536..138275159-chrX:138281329..138282896,2	K562	blood:
2	chrX:138282334..138284034-chrX:138350999..138353956,2	K562	blood:
3	chrX:138282011..138285172-chrX:138285245..138287356,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129682	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs4145397	1.00[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap]
rs4145398	1.00[CEU][hapmap]
rs5974807	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap]
rs5976315	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap]
rs5976316	1.00[CEU][hapmap];0.91[JPT][hapmap]
rs6418808	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs6528600	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs6635783	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs6635784	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs6654363	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs7471425	0.85[CHD][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	nsv525867	chrX:137580983-138439843	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv533984	chrX:137938683-138556308	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv532935	chrX:138281469-138764448	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:138277400-138285200	Weak transcription	Pancreas	Pancrea
2	chrX:138277600-138284000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chrX:138277600-138285400	Weak transcription	Liver	Liver
4	chrX:138277600-138286000	Weak transcription	Right Atrium	heart
5	chrX:138279000-138284800	Weak transcription	Gastric	stomach
6	chrX:138281600-138282800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chrX:138281600-138283000	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chrX:138281800-138282600	Enhancers	Psoas Muscle	Psoas
9	chrX:138282000-138283000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chrX:138282000-138283400	Enhancers	K562	blood
11	chrX:138282000-138284200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chrX:138282200-138283000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
13	chrX:138282200-138283600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chrX:138282200-138283600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chrX:138282400-138282600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chrX:138282400-138282600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
17	chrX:138282400-138282600	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chrX:138282400-138282800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chrX:138282400-138282800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chrX:138282400-138283000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
21	chrX:138282400-138283000	Bivalent Enhancer	Fetal Stomach	stomach
22	chrX:138282400-138283000	Enhancers	Stomach Mucosa	stomach
23	chrX:138282400-138283200	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chrX:138282400-138283600	Enhancers	NH-A	brain

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