Variant report

Variant	rs2151279
Chromosome Location	chr9:22049845-22049846
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:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs16905597	0.87[AFR][1000 genomes]
rs16935753	0.87[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2069420	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3217980	0.86[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3217990	1.00[EUR][1000 genomes]
rs3217994	0.86[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3217997	0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3217999	0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3218003	0.86[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3218021	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3218022	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3218023	0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3731205	1.00[EUR][1000 genomes]
rs56235436	0.83[AMR][1000 genomes]
rs60693449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61564778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73650003	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73652816	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73652817	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73652818	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73652821	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73652824	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73652825	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73652839	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73652841	0.83[AMR][1000 genomes]
rs73652842	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73652843	1.00[EUR][1000 genomes]
rs73652845	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73652846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73652847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73652848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73652849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:41 , 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	chr9:22045600-22050200	Weak transcription	NHEK	skin
4	chr9:22045600-22050400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr9:22045600-22050400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr9:22045600-22051800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr9:22045800-22050400	Weak transcription	NH-A	brain
8	chr9:22046400-22050600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr9:22046600-22050600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr9:22046600-22052600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr9:22047000-22051000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr9:22047200-22050200	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr9:22047200-22050400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr9:22047200-22050400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr9:22047200-22050600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr9:22047200-22050600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr9:22048200-22050200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr9:22049200-22050600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:22049200-22050800	Genic enhancers	Dnd41	blood
20	chr9:22049200-22050800	Strong transcription	Hela-S3	cervix
21	chr9:22049200-22053800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr9:22049400-22050000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr9:22049400-22053800	Enhancers	HUVEC	blood vessel
24	chr9:22049400-22054000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr9:22049600-22050000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr9:22049600-22050600	Weak transcription	Adipose Nuclei	Adipose
27	chr9:22049600-22050600	Weak transcription	Esophagus	oesophagus
28	chr9:22049600-22052000	Enhancers	Primary B cells from cord blood	blood
29	chr9:22049600-22052200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr9:22049600-22052200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr9:22049600-22052200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr9:22049600-22052400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr9:22049800-22050200	Weak transcription	Primary B cells from peripheral blood	blood
34	chr9:22049800-22050400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr9:22049800-22050800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr9:22049800-22051800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr9:22049800-22051800	Weak transcription	HMEC	breast
38	chr9:22049800-22051800	Weak transcription	HSMM	muscle
39	chr9:22049800-22052000	Enhancers	Primary hematopoietic stem cells	blood
40	chr9:22049800-22052000	Weak transcription	Osteobl	bone
41	chr9:22049800-22052200	Weak transcription	NHDF-Ad	bronchial

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