Variant report

Variant	rs10497113
Chromosome Location	chr2:153577786-153577787
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	POLR2A	chr2:153573356-153577814	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153574994..153576922-chr2:153576951..153581012,5	MCF-7	breast:

Variant related genes	Relation type
PRPF40A	TF binding region
ENSG00000177917	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10931263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931279	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1135617	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11674911	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676069	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11694512	0.84[ASN][1000 genomes]
rs11901227	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12475871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12478681	0.84[ASN][1000 genomes]
rs12693429	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[ASN][1000 genomes]
rs12989903	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12990935	1.00[CHB][hapmap]
rs12995388	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12999331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13003670	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13006652	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13014141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017131	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13022436	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13023779	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13023975	0.83[EUR][1000 genomes]
rs1370499	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16831440	0.83[EUR][1000 genomes]
rs16831456	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17328776	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17400456	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17400938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17400952	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17400980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2083097	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2346551	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34199006	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34454505	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34469468	0.84[EUR][1000 genomes]
rs34619076	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34775858	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35002744	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35421285	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35754252	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35894330	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35937874	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs36107565	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36122595	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3811569	0.85[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4575677	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434172	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66492085	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66849546	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6728189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6736003	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71417232	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71417235	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72871148	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7591590	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598878	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834421	chr2:153470109-153664235	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3693438	chr2:153505376-153718246	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153575800-153582800	Weak transcription	Lung	lung
2	chr2:153575800-153587200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:153575800-153611600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:153575800-153611600	Weak transcription	Esophagus	oesophagus
5	chr2:153575800-153621400	Weak transcription	Pancreas	Pancrea
6	chr2:153576000-153577800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:153576000-153578000	Weak transcription	Small Intestine	intestine
8	chr2:153576000-153578400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr2:153576000-153579200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:153576000-153581200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:153576000-153594400	Weak transcription	Left Ventricle	heart
12	chr2:153576000-153615800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:153576200-153578000	Enhancers	Stomach Mucosa	stomach
14	chr2:153576200-153578200	Weak transcription	HSMM	muscle
15	chr2:153576200-153578400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr2:153576200-153578400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr2:153576200-153578600	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr2:153576200-153594800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr2:153576600-153577800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr2:153576600-153577800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr2:153576600-153577800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:153576600-153577800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr2:153576600-153578200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:153576600-153578200	Transcr. at gene 5' and 3'	Dnd41	blood
25	chr2:153576600-153578400	Enhancers	Primary B cells from cord blood	blood
26	chr2:153576600-153587000	Weak transcription	Placenta	Placenta
27	chr2:153576800-153577800	Enhancers	Adipose Nuclei	Adipose
28	chr2:153576800-153577800	Genic enhancers	Fetal Muscle Leg	muscle
29	chr2:153576800-153578800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:153576800-153581200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:153576800-153581800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:153576800-153585200	Weak transcription	Fetal Stomach	stomach
33	chr2:153576800-153587200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:153576800-153591400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:153576800-153592600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:153576800-153592800	Weak transcription	NH-A	brain
37	chr2:153577000-153577800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr2:153577000-153577800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
39	chr2:153577000-153577800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:153577000-153577800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:153577000-153578000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr2:153577000-153578200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:153577000-153578200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:153577000-153578600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:153577000-153578800	Strong transcription	Fetal Muscle Trunk	muscle
46	chr2:153577000-153578800	Genic enhancers	HepG2	liver
47	chr2:153577000-153579200	Weak transcription	Right Ventricle	heart
48	chr2:153577000-153579400	Weak transcription	HMEC	breast
49	chr2:153577000-153582800	Weak transcription	Psoas Muscle	Psoas
50	chr2:153577000-153586400	Weak transcription	NHEK	skin

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