Variant report

Variant	rs9288155
Chromosome Location	chr2:189209840-189209841
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:189207622..189210437-chr2:189226980..189229019,2	K562	blood:
2	chr2:189201975..189204837-chr2:189208043..189211799,3	K562	blood:
3	chr2:189202492..189204837-chr2:189207740..189211799,3	K562	blood:
4	chr2:189205126..189207839-chr2:189209515..189212152,3	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10460383	1.00[YRI][hapmap]
rs10931348	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4073660	0.97[EUR][1000 genomes]
rs4494698	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4563189	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4625863	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4666761	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57923102	0.87[EUR][1000 genomes]
rs6434279	1.00[YRI][hapmap]
rs6711599	0.84[AFR][1000 genomes]
rs73978242	0.87[EUR][1000 genomes]
rs7559636	1.00[YRI][hapmap]
rs7597229	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1010330	chr2:189182307-189265614	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv584053	chr2:189184422-189245515	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv999135	chr2:189184937-189265614	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv584054	chr2:189185726-189233419	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv534341	chr2:189200405-189368467	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189188800-189210600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:189192200-189225200	Weak transcription	Placenta	Placenta
3	chr2:189194600-189218200	Weak transcription	Gastric	stomach
4	chr2:189199000-189210000	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:189199400-189210800	Weak transcription	HUVEC	blood vessel
6	chr2:189199400-189247600	Weak transcription	Aorta	Aorta
7	chr2:189199800-189212000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:189200600-189221600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:189205200-189228800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:189205600-189210000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:189205600-189212000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:189205600-189215600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:189205600-189227400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr2:189205800-189211200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:189206000-189220400	Weak transcription	Fetal Stomach	stomach
16	chr2:189206200-189210200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:189206200-189218200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:189206400-189218800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:189207000-189211800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:189208000-189211000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr2:189208800-189210200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:189208800-189210400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr2:189208800-189211000	Enhancers	Fetal Lung	lung
24	chr2:189209000-189210000	Enhancers	Fetal Kidney	kidney
25	chr2:189209000-189210200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:189209400-189210200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr2:189209400-189210400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:189209400-189210600	Weak transcription	A549	lung
29	chr2:189209400-189211000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:189209600-189210200	Enhancers	Fetal Brain Male	brain
31	chr2:189209600-189211000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:189209600-189212000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:189209600-189215400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr2:189209800-189210200	Enhancers	Left Ventricle	heart
35	chr2:189209800-189211000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:189209800-189211200	Enhancers	Primary hematopoietic stem cells	blood

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