Variant report

Variant	rs17096922
Chromosome Location	chr12:46800621-46800622
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46793862..46797366-chr12:46798440..46803120,6	MCF-7	breast:
2	chr12:46778278..46780739-chr12:46799465..46801687,2	K562	blood:
3	chr12:46762602..46765130-chr12:46800260..46802192,2	K562	blood:
4	chr12:46777352..46780040-chr12:46800402..46802585,2	MCF-7	breast:
5	chr12:46800362..46803961-chr12:46808441..46811398,3	K562	blood:
6	chr12:46794174..46798124-chr12:46799495..46805327,7	K562	blood:
7	chr12:46749940..46752646-chr12:46799282..46801675,2	MCF-7	breast:
8	chr12:46795533..46798124-chr12:46799552..46803946,3	K562	blood:
9	chr12:46798219..46802284-chr12:46803095..46805948,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257261	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10467215	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs10506267	0.83[CHB][hapmap]
rs11183454	0.88[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11183467	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11183482	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11183487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11183500	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs11183510	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs1125908	0.87[CHB][hapmap];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11830080	1.00[EUR][1000 genomes]
rs11834905	1.00[AMR][1000 genomes]
rs11837634	1.00[EUR][1000 genomes]
rs12299499	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12314541	0.80[YRI][hapmap]
rs12317255	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12320438	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12321512	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12321642	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12321960	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs12322378	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13377959	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17096765	1.00[EUR][1000 genomes]
rs17096793	1.00[EUR][1000 genomes]
rs17096884	0.88[CHB][hapmap];0.83[JPT][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs17096896	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17096998	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs2085682	1.00[EUR][1000 genomes]
rs2125646	0.82[CHB][hapmap]
rs2307062	0.88[CHB][hapmap]
rs2307063	0.88[CHB][hapmap]
rs2408509	0.82[CHB][hapmap]
rs34280632	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35875247	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36010856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3742061	0.88[CHB][hapmap];0.84[JPT][hapmap];1.00[AMR][1000 genomes]
rs3935048	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs4768118	1.00[YRI][hapmap]
rs56036156	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56160202	1.00[EUR][1000 genomes]
rs56196954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56314009	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57425661	1.00[AMR][1000 genomes]
rs58460251	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58890669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59608605	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60565802	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60878594	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61406609	1.00[AMR][1000 genomes]
rs73282591	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73290315	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74082237	1.00[EUR][1000 genomes]
rs74082254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74082263	1.00[EUR][1000 genomes]
rs74082274	1.00[EUR][1000 genomes]
rs74083758	1.00[EUR][1000 genomes]
rs7488027	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7953339	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs7954314	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7965618	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7967889	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7977319	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7980023	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs923788	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9669404	1.00[YRI][hapmap];0.82[AFR][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	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
3	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46779600-46802800	Weak transcription	Pancreas	Pancrea
2	chr12:46793800-46801200	Enhancers	Dnd41	blood
3	chr12:46794800-46802200	Weak transcription	Placenta	Placenta
4	chr12:46795000-46809200	Weak transcription	Esophagus	oesophagus
5	chr12:46795800-46804000	Weak transcription	Right Ventricle	heart
6	chr12:46797000-46819800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:46797600-46800800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:46797600-46801200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:46797600-46802000	Weak transcription	Aorta	Aorta
10	chr12:46797800-46805400	Weak transcription	HepG2	liver
11	chr12:46798400-46800800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:46798400-46802000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:46798400-46802400	Weak transcription	Fetal Lung	lung
14	chr12:46798600-46801600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:46798600-46801800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:46798600-46802000	Weak transcription	Fetal Stomach	stomach
17	chr12:46798600-46802000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:46798600-46802200	Weak transcription	Fetal Muscle Leg	muscle
19	chr12:46798600-46802200	Weak transcription	Left Ventricle	heart
20	chr12:46798600-46802600	Weak transcription	HUVEC	blood vessel
21	chr12:46798600-46807200	Weak transcription	Small Intestine	intestine
22	chr12:46798800-46801600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr12:46798800-46802800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:46798800-46804000	Weak transcription	Hela-S3	cervix
25	chr12:46798800-46805800	Weak transcription	Primary B cells from cord blood	blood
26	chr12:46798800-46806800	Weak transcription	Colon Smooth Muscle	Colon
27	chr12:46799000-46804400	Weak transcription	NHLF	lung
28	chr12:46799000-46809200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:46799400-46802000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:46799800-46801600	Enhancers	NH-A	brain
31	chr12:46800200-46800800	Enhancers	Adipose Nuclei	Adipose
32	chr12:46800200-46800800	Enhancers	Psoas Muscle	Psoas
33	chr12:46800200-46800800	Enhancers	K562	blood
34	chr12:46800200-46801000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:46800200-46801600	Enhancers	Osteobl	bone
36	chr12:46800200-46802000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:46800200-46802600	Enhancers	Fetal Heart	heart
38	chr12:46800400-46800800	Enhancers	Right Atrium	heart
39	chr12:46800400-46800800	Enhancers	NHDF-Ad	bronchial
40	chr12:46800400-46801000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:46800600-46800800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr12:46800600-46800800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr12:46800600-46800800	Enhancers	Rectal Smooth Muscle	rectum
44	chr12:46800600-46800800	Enhancers	Stomach Smooth Muscle	stomach
45	chr12:46800600-46801000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:46800600-46801400	Enhancers	NHEK	skin
47	chr12:46800600-46801800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:46800600-46802000	Enhancers	HMEC	breast

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