Variant report

Variant	rs10221891
Chromosome Location	chr2:182752194-182752195
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr2:182751685-182752218	MCF10A-Er-Src	breast:	n/a	chr2:182751776-182751788

No.	Distal block	Cell Line	Cell type
1	chr2:182608906..182610576-chr2:182750381..182752530,2	MCF-7	breast:
2	chr2:182655375..182656915-chr2:182750868..182752797,2	MCF-7	breast:
3	chr2:182648713..182650748-chr2:182748851..182753671,4	MCF-7	breast:
4	chr2:182741418..182743213-chr2:182749942..182752265,2	MCF-7	breast:

Variant related genes	Relation type
SSFA2	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10165936	1.00[CEU][hapmap]
rs10173114	1.00[CEU][hapmap]
rs10176061	1.00[CEU][hapmap]
rs10176613	1.00[CEU][hapmap]
rs10176757	1.00[CEU][hapmap]
rs10177346	0.84[AMR][1000 genomes]
rs10179363	1.00[CEU][hapmap];0.88[TSI][hapmap]
rs10179547	1.00[CEU][hapmap];0.88[TSI][hapmap]
rs10199645	1.00[CEU][hapmap]
rs10200243	1.00[CEU][hapmap];0.88[TSI][hapmap]
rs10201303	1.00[CEU][hapmap]
rs10205426	0.86[AMR][1000 genomes]
rs10210215	1.00[CEU][hapmap]
rs13399544	0.86[AMR][1000 genomes]
rs13404156	1.00[CEU][hapmap]
rs13425734	1.00[CEU][hapmap]
rs1365805	0.84[AMR][1000 genomes]
rs1427334	0.83[AMR][1000 genomes]
rs1528024	1.00[CEU][hapmap]
rs1528025	1.00[CEU][hapmap]
rs1528027	1.00[CEU][hapmap]
rs16867498	1.00[CEU][hapmap]
rs16867500	0.81[MEX][hapmap];0.90[TSI][hapmap]
rs16867509	1.00[CEU][hapmap]
rs1863687	0.83[AMR][1000 genomes]
rs1881158	1.00[CEU][hapmap]
rs1881159	1.00[CEU][hapmap]
rs2059702	1.00[CEU][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes]
rs2288330	1.00[CEU][hapmap]
rs2303554	1.00[CEU][hapmap]
rs2368224	1.00[CEU][hapmap]
rs3731693	1.00[CEU][hapmap]
rs3815877	1.00[CEU][hapmap]
rs3815878	1.00[CEU][hapmap]
rs6433943	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.93[MEX][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6707164	1.00[CEU][hapmap]
rs6720109	1.00[CEU][hapmap]
rs6720702	1.00[CEU][hapmap]
rs6735322	1.00[CEU][hapmap]
rs6736766	1.00[CEU][hapmap]
rs6748354	1.00[CEU][hapmap]
rs6751685	1.00[CEU][hapmap]
rs6754192	1.00[CEU][hapmap]
rs6755017	1.00[CEU][hapmap]
rs7557969	1.00[CEU][hapmap]
rs7562680	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7580410	1.00[CEU][hapmap]
rs7599951	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7603721	1.00[CEU][hapmap]
rs7608942	1.00[CEU][hapmap]
rs9807949	1.00[CEU][hapmap]
rs9808112	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv834478	chr2:182654811-182843201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv834479	chr2:182738483-182905444	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182750200-182752200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr2:182750600-182752200	Enhancers	NHEK	skin
3	chr2:182750800-182752200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:182750800-182752200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:182750800-182752200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:182750800-182752200	Enhancers	HMEC	breast
7	chr2:182751000-182752200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:182751000-182752400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:182751000-182752600	Enhancers	Hela-S3	cervix
10	chr2:182751200-182752400	Enhancers	HepG2	liver
11	chr2:182751200-182754600	Weak transcription	K562	blood
12	chr2:182751200-182754800	Weak transcription	HUVEC	blood vessel
13	chr2:182751200-182755000	Weak transcription	HSMMtube	muscle
14	chr2:182751200-182755200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:182751400-182752400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:182751400-182755600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:182751400-182755600	Weak transcription	Aorta	Aorta
18	chr2:182751400-182755800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:182751400-182756000	Weak transcription	Osteobl	bone
20	chr2:182751600-182752400	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr2:182751600-182753000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:182751600-182755800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:182751800-182752200	Enhancers	A549	lung
24	chr2:182751800-182754800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:182752000-182752200	Enhancers	Brain Substantia Nigra	brain
26	chr2:182752000-182755800	Weak transcription	Brain Anterior Caudate	brain
27	chr2:182752000-182755800	Weak transcription	NH-A	brain

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