Variant report

Variant	rs17694555
Chromosome Location	chr9:22051295-22051296
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:22040543..22043191-chr9:22050935..22052870,2	MCF-7	breast:
2	chr9:22047984..22049906-chr9:22051039..22052932,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTAP-1	chr9:22051172-22054011	NONHSAT130430

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10757262	1.00[CHB][hapmap]
rs11515	1.00[CHB][hapmap]
rs1333034	1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1333035	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs17694493	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs17694572	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17756311	0.95[EUR][1000 genomes]
rs2069422	1.00[CHB][hapmap]
rs2069426	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs2811709	1.00[CHB][hapmap]
rs3218002	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3218005	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3218007	0.86[EUR][1000 genomes]
rs3218018	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs3731201	1.00[CHB][hapmap]
rs3731246	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs598664	0.80[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs662463	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs974336	1.00[CEU][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529609	chr9:21708371-22537069	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv8426	chr9:21763810-22176200	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1018514	chr9:21944275-22075326	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv892747	chr9:21984661-22068646	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv531617	chr9:21985057-22809676	Genic enhancers Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:22042600-22052600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr9:22042800-22052600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:22045600-22051800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr9:22046600-22052600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr9:22049200-22053800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr9:22049400-22053800	Enhancers	HUVEC	blood vessel
7	chr9:22049400-22054000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr9:22049600-22052000	Enhancers	Primary B cells from cord blood	blood
9	chr9:22049600-22052200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr9:22049600-22052200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:22049600-22052200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:22049600-22052400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr9:22049800-22051800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr9:22049800-22051800	Weak transcription	HMEC	breast
15	chr9:22049800-22051800	Weak transcription	HSMM	muscle
16	chr9:22049800-22052000	Enhancers	Primary hematopoietic stem cells	blood
17	chr9:22049800-22052000	Weak transcription	Osteobl	bone
18	chr9:22049800-22052200	Weak transcription	NHDF-Ad	bronchial
19	chr9:22050200-22051400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr9:22050200-22051600	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr9:22050200-22051800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr9:22050200-22052000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr9:22050200-22052200	Enhancers	Primary B cells from peripheral blood	blood
24	chr9:22050200-22053400	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr9:22050200-22053800	Enhancers	NHEK	skin
26	chr9:22050400-22051600	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr9:22050400-22051800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr9:22050400-22053200	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr9:22050400-22053200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr9:22050400-22053200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr9:22050400-22053600	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr9:22050400-22053800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr9:22050600-22051800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr9:22050600-22052000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr9:22050600-22053000	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr9:22050600-22053400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr9:22050600-22053400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr9:22050600-22053800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr9:22050800-22051600	Transcr. at gene 5' and 3'	Dnd41	blood
40	chr9:22050800-22052000	Weak transcription	Hela-S3	cervix
41	chr9:22050800-22052200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr9:22051000-22051400	Enhancers	NH-A	brain
43	chr9:22051000-22052000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr9:22051000-22052400	Weak transcription	Fetal Thymus	thymus
45	chr9:22051000-22053000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr9:22051000-22053200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr9:22051200-22051600	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr9:22051200-22051600	Flanking Active TSS	GM12878-XiMat	blood
49	chr9:22051200-22052200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr9:22051200-22052400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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