Variant report

Variant	rs11065475
Chromosome Location	chr12:121630438-121630439
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121629482..121631829-chr12:121636997..121639152,2	K562	blood:
2	chr12:121600298..121602055-chr12:121628900..121630578,2	MCF-7	breast:
3	chr12:121629482..121631190-chr12:121637001..121639152,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11065473	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12366304	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12372746	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2230912	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850520	1.00[ASN][1000 genomes]
rs3886929	1.00[ASN][1000 genomes]
rs3887080	1.00[ASN][1000 genomes]
rs61953399	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61953428	1.00[ASN][1000 genomes]
rs61953429	1.00[ASN][1000 genomes]
rs7961979	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121583000-121634600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:121583800-121634400	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr12:121596400-121634200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:121602400-121634600	Weak transcription	Fetal Thymus	thymus
5	chr12:121614000-121634600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr12:121620400-121634200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr12:121622800-121634200	Weak transcription	Placenta	Placenta
8	chr12:121622800-121634400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:121623600-121634200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:121623600-121634200	Weak transcription	Liver	Liver
11	chr12:121623600-121634400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:121624200-121647200	Weak transcription	Brain Anterior Caudate	brain
13	chr12:121624600-121631600	Enhancers	HUVEC	blood vessel
14	chr12:121625600-121634400	Weak transcription	Primary T cells from cord blood	blood
15	chr12:121625600-121647200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:121627400-121630600	Enhancers	NHLF	lung
17	chr12:121627800-121630600	Enhancers	HSMM	muscle
18	chr12:121628000-121631400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:121628000-121647200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:121628800-121630600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:121628800-121631600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:121628800-121634200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:121628800-121634200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:121628800-121634400	Weak transcription	K562	blood
25	chr12:121629000-121630600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:121629400-121634200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr12:121629600-121633800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr12:121629600-121634400	Weak transcription	Right Atrium	heart
29	chr12:121629800-121630600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:121629800-121630600	Enhancers	Brain Angular Gyrus	brain
31	chr12:121630000-121634200	Weak transcription	Adipose Nuclei	Adipose
32	chr12:121630400-121631200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:121630400-121631200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr12:121630400-121631200	Weak transcription	HMEC	breast
35	chr12:121630400-121634200	Weak transcription	Spleen	Spleen
36	chr12:121630400-121640400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:121630400-121640800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:121630400-121647200	Weak transcription	Brain Hippocampus Middle	brain

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