Variant report

Variant	rs12317575
Chromosome Location	chr12:9818275-9818276
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11052233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11052266	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11052678	1.00[AMR][1000 genomes]
rs11834388	1.00[AMR][1000 genomes]
rs12297721	1.00[AMR][1000 genomes]
rs12303281	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12303925	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12311889	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12317691	1.00[AMR][1000 genomes]
rs74062738	1.00[AMR][1000 genomes]
rs74062744	1.00[AMR][1000 genomes]
rs74062748	1.00[AMR][1000 genomes]
rs9630263	1.00[AMR][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	nsv427903	chr12:9371593-9830668	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
4	esv1821732	chr12:9560087-9830668	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv1823760	chr12:9560087-9830668	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv428271	chr12:9560087-9830668	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv917178	chr12:9637315-9820153	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr12:9802400-9849800	Weak transcription	Pancreas	Pancrea
2	chr12:9803000-9819800	Weak transcription	Fetal Brain Female	brain
3	chr12:9803000-9820200	Weak transcription	Brain Substantia Nigra	brain
4	chr12:9803000-9822200	Weak transcription	Small Intestine	intestine
5	chr12:9803600-9826200	Weak transcription	Esophagus	oesophagus
6	chr12:9804400-9820400	Weak transcription	HUVEC	blood vessel
7	chr12:9804600-9820000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:9804600-9820000	Weak transcription	HMEC	breast
9	chr12:9804600-9820200	Weak transcription	NHEK	skin
10	chr12:9805600-9819400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:9806200-9819000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr12:9806200-9821600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr12:9806600-9818600	Strong transcription	Adipose Nuclei	Adipose
14	chr12:9806600-9818600	Strong transcription	Fetal Lung	lung
15	chr12:9807000-9826000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr12:9807600-9847200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:9808000-9820000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr12:9808600-9819200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
19	chr12:9808800-9819200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr12:9812000-9820400	Weak transcription	NHLF	lung
21	chr12:9812800-9825800	Weak transcription	Right Ventricle	heart
22	chr12:9813000-9825800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:9813000-9826200	Weak transcription	Brain Anterior Caudate	brain
24	chr12:9813000-9826200	Weak transcription	Gastric	stomach
25	chr12:9813600-9818600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:9813800-9826000	Weak transcription	NHDF-Ad	bronchial
27	chr12:9814000-9818800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr12:9814600-9819200	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr12:9814600-9819600	Genic enhancers	Primary T cells fromperipheralblood	blood
30	chr12:9814800-9818600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:9814800-9820000	Weak transcription	A549	lung
32	chr12:9815000-9820200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:9815000-9820800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:9815000-9822400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr12:9815000-9826000	Weak transcription	Lung	lung
36	chr12:9815000-9826000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr12:9815000-9826200	Weak transcription	Colonic Mucosa	Colon
38	chr12:9815000-9826200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:9815000-9826400	Weak transcription	Fetal Intestine Small	intestine
40	chr12:9815200-9818800	Strong transcription	Fetal Thymus	thymus
41	chr12:9815200-9820000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:9815200-9820000	Weak transcription	HSMMtube	muscle
43	chr12:9815200-9820200	Weak transcription	NH-A	brain
44	chr12:9815200-9824000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr12:9815200-9825000	Weak transcription	K562	blood
46	chr12:9815200-9825800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:9815200-9825800	Weak transcription	Colon Smooth Muscle	Colon
48	chr12:9815200-9826200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr12:9815200-9828400	Weak transcription	Liver	Liver
50	chr12:9815200-9840600	Weak transcription	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links