Variant report

Variant	rs10757266
Chromosome Location	chr9:22049555-22049556
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTAP-1	chr9:22049105-22049647	NONHSAT130430

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10115049	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10120688	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10120806	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10738605	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10757263	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10757264	0.86[ASN][1000 genomes]
rs10757265	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10757267	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10811640	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10811643	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10811644	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10811645	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10965212	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10965215	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10965219	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1333036	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1360590	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1591136	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2106119	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2106120	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2151280	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2184061	0.81[ASN][1000 genomes]
rs2383204	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs490005	0.87[ASN][1000 genomes]
rs496892	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4977753	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs504318	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs567453	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs581876	0.80[ASN][1000 genomes]
rs643319	0.87[ASN][1000 genomes]
rs7027048	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7027950	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7028570	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7035484	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7044859	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7049105	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs944799	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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:39 , 50 per page) page: 1

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	chr9:22045200-22049600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr9:22045600-22050200	Weak transcription	NHEK	skin
5	chr9:22045600-22050400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr9:22045600-22050400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr9:22045600-22051800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr9:22045800-22050400	Weak transcription	NH-A	brain
9	chr9:22046400-22050600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr9:22046600-22050600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr9:22046600-22052600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr9:22047000-22051000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr9:22047200-22050200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr9:22047200-22050400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr9:22047200-22050400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr9:22047200-22050600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr9:22047200-22050600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr9:22048000-22049600	Enhancers	Adipose Nuclei	Adipose
19	chr9:22048200-22050200	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr9:22049200-22049600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:22049200-22049600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr9:22049200-22049800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr9:22049200-22049800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr9:22049200-22049800	Enhancers	NHDF-Ad	bronchial
25	chr9:22049200-22049800	Enhancers	Osteobl	bone
26	chr9:22049200-22050600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr9:22049200-22050800	Genic enhancers	Dnd41	blood
28	chr9:22049200-22050800	Strong transcription	Hela-S3	cervix
29	chr9:22049200-22053800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr9:22049400-22049600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr9:22049400-22049600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr9:22049400-22049600	Enhancers	Esophagus	oesophagus
33	chr9:22049400-22049800	Enhancers	Primary B cells from peripheral blood	blood
34	chr9:22049400-22049800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
35	chr9:22049400-22049800	Enhancers	HMEC	breast
36	chr9:22049400-22049800	Enhancers	HSMM	muscle
37	chr9:22049400-22050000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr9:22049400-22053800	Enhancers	HUVEC	blood vessel
39	chr9:22049400-22054000	Enhancers	Cortex derived primary cultured neurospheres	brain

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