Variant report

Variant	rs6635927
Chromosome Location	chrX:139012067-139012068
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chrX:139006431..139009320-chrX:139009614..139012106,2	MCF-7	breast:
2	chrX:139011779..139014233-chrX:139015121..139017109,2	MCF-7	breast:
3	chrX:138953765..138955836-chrX:139011529..139013687,2	K562	blood:
4	chrX:139003050..139005893-chrX:139011125..139013950,3	MCF-7	breast:

Variant related genes	Relation type
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]
rs12389012	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]

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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:138986200-139012200	Weak transcription	Fetal Intestine Small	intestine
2	chrX:138994000-139012600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chrX:138998600-139013200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chrX:139000000-139012200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chrX:139003000-139013000	Weak transcription	Fetal Heart	heart
6	chrX:139003000-139013200	Weak transcription	Psoas Muscle	Psoas
7	chrX:139005000-139013200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chrX:139006400-139012400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chrX:139006600-139012800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chrX:139006800-139012200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chrX:139006800-139012200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chrX:139006800-139012200	Weak transcription	Duodenum Mucosa	Duodenum
13	chrX:139006800-139012600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chrX:139006800-139013200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chrX:139006800-139013200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chrX:139007000-139012200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chrX:139007000-139012200	Weak transcription	Colon Smooth Muscle	Colon
18	chrX:139007000-139013200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chrX:139008200-139012200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chrX:139008600-139012200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chrX:139009000-139012200	Enhancers	Liver	Liver
22	chrX:139009200-139012400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chrX:139009600-139012200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chrX:139010400-139013200	Weak transcription	Aorta	Aorta
25	chrX:139010800-139012600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chrX:139011000-139012200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chrX:139011000-139016000	Active TSS	GM12878-XiMat	blood
28	chrX:139011400-139012800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chrX:139011600-139012200	Weak transcription	Gastric	stomach
30	chrX:139011600-139012200	Enhancers	K562	blood
31	chrX:139011600-139012600	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chrX:139011600-139012800	Enhancers	Muscle Satellite Cultured Cells	--
33	chrX:139011800-139013000	Enhancers	Primary T cells from cord blood	blood
34	chrX:139011800-139016800	Active TSS	HepG2	liver
35	chrX:139012000-139012200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chrX:139012000-139012200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chrX:139012000-139012200	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chrX:139012000-139012200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chrX:139012000-139012200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chrX:139012000-139012200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chrX:139012000-139012200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chrX:139012000-139012200	Active TSS	Fetal Brain Female	brain
43	chrX:139012000-139012200	Enhancers	Fetal Intestine Large	intestine
44	chrX:139012000-139012200	Enhancers	A549	lung
45	chrX:139012000-139012200	Enhancers	Dnd41	blood
46	chrX:139012000-139012200	Flanking Active TSS	Hela-S3	cervix
47	chrX:139012000-139012200	Enhancers	HUVEC	blood vessel
48	chrX:139012000-139012400	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chrX:139012000-139012400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chrX:139012000-139012400	Enhancers	Fetal Thymus	thymus

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