Variant report

Variant	rs13014162
Chromosome Location	chr2:189205582-189205583
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189205126..189207839-chr2:189209515..189212152,3	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10460383	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931347	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10931350	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11688935	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12613370	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12693496	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34711211	0.90[ASN][1000 genomes]
rs35409022	1.00[ASN][1000 genomes]
rs4233800	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4278900	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4292061	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4353610	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4353611	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4446047	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4505490	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6434274	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6434275	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6434276	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6434279	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67050668	1.00[ASN][1000 genomes]
rs6711599	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6716852	0.80[EUR][1000 genomes]
rs6723034	0.81[ASN][1000 genomes]
rs6727073	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7419883	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7559636	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7575702	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7577484	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7585851	0.88[AMR][1000 genomes];0.93[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:31 , 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	chr2:189198600-189209000	Weak transcription	Fetal Kidney	kidney
5	chr2:189198800-189206000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:189199000-189210000	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:189199400-189210800	Weak transcription	HUVEC	blood vessel
8	chr2:189199400-189247600	Weak transcription	Aorta	Aorta
9	chr2:189199800-189209000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:189199800-189212000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:189200600-189221600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:189201400-189209600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:189203400-189205800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:189203600-189205800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:189203800-189205600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr2:189203800-189206200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:189204000-189205600	Enhancers	H1 Cell Line	embryonic stem cell
18	chr2:189204000-189205600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr2:189205000-189205600	Enhancers	H9 Cell Line	embryonic stem cell
20	chr2:189205000-189205600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr2:189205000-189205600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:189205000-189205800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:189205000-189205800	ZNF genes & repeats	Fetal Intestine Small	intestine
24	chr2:189205000-189206200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:189205000-189207000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:189205200-189228800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:189205400-189205600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:189205400-189206000	ZNF genes & repeats	Fetal Stomach	stomach
29	chr2:189205400-189206400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:189205400-189208800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:189205400-189208800	Weak transcription	Fetal Lung	lung

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