Variant report

Variant	rs12389012
Chromosome Location	chrX:138960951-138960952
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chrX:138959679..138962368-chrX:139014350..139016368,3	MCF-7	breast:
2	chrX:138960226..138963595-chrX:138966113..138968474,3	K562	blood:
3	chrX:138958237..138961195-chrX:138963345..138965697,2	K562	blood:
4	chrX:138960204..138962470-chrX:138986792..138989321,2	K562	blood:
5	chrX:138960408..138962887-chrX:138969106..138970786,2	K562	blood:

Variant related genes	Relation type
ENSG00000221375	Chromatin interaction
ENSG00000101974	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10126150	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs12688688	0.86[YRI][hapmap]
rs17282011	0.86[YRI][hapmap]
rs1890241	0.89[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs5908152	1.00[YRI][hapmap]
rs5953748	0.86[YRI][hapmap]
rs5953790	0.86[YRI][hapmap]
rs5953791	1.00[YRI][hapmap]
rs5953812	1.00[YRI][hapmap]
rs5954540	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs5954556	1.00[YRI][hapmap]
rs5954768	1.00[ASW][hapmap];1.00[LWK][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap]
rs5954897	1.00[YRI][hapmap]
rs5954997	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs5955049	1.00[YRI][hapmap]
rs6635927	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][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	nsv532936	chrX:138687855-139384681	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
2	nsv491760	chrX:138780768-139283477	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
3	nsv917353	chrX:138912620-139283492	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	146 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:138934000-138964600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chrX:138935600-138967600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chrX:138937000-138964200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chrX:138939400-138962400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chrX:138941600-138964200	Weak transcription	Primary T cells from cord blood	blood
6	chrX:138941800-138988200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chrX:138942800-138963000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chrX:138949000-138978800	Weak transcription	Fetal Intestine Small	intestine
9	chrX:138949600-138964600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chrX:138951400-138966600	Weak transcription	GM12878-XiMat	blood
11	chrX:138954400-138965600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chrX:138955200-138973600	Weak transcription	Primary B cells from peripheral blood	blood
13	chrX:138956000-138962800	Weak transcription	NHLF	lung
14	chrX:138956400-138975000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chrX:138956800-138964600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chrX:138957200-138963200	Enhancers	HUVEC	blood vessel
17	chrX:138958200-138963400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chrX:138958400-138961000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chrX:138958400-138962400	Weak transcription	Fetal Heart	heart
20	chrX:138958800-138962000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chrX:138959600-138961400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chrX:138959600-138962400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chrX:138959600-138964000	Weak transcription	Primary hematopoietic stem cells	blood
24	chrX:138959800-138961000	Enhancers	Hela-S3	cervix
25	chrX:138959800-138962200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chrX:138959800-138976400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chrX:138960000-138961400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chrX:138960000-138963000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chrX:138960200-138961000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chrX:138960200-138961400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chrX:138960600-138961200	Enhancers	K562	blood
32	chrX:138960600-138964600	Weak transcription	Liver	Liver
33	chrX:138960800-138961000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chrX:138960800-138961000	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chrX:138960800-138961200	Enhancers	Psoas Muscle	Psoas

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