Variant report

Variant	rs7133815
Chromosome Location	chr12:106476140-106476141
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11112856	0.92[CEU][hapmap];0.86[GIH][hapmap];1.00[ASN][1000 genomes]
rs11112857	1.00[CEU][hapmap];0.94[GIH][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306141	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12815216	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12826780	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36103235	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832509	chr12:106363888-106516221	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7133815	KIAA1033	cis	lymphoblastoid	seeQTL

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106458600-106476800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:106458800-106500200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:106461800-106499600	Weak transcription	Fetal Intestine Large	intestine
4	chr12:106462400-106482600	Weak transcription	Esophagus	oesophagus
5	chr12:106462600-106477400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:106462800-106477400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr12:106463800-106477600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:106464600-106477400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:106465200-106487000	Weak transcription	Brain Germinal Matrix	brain
10	chr12:106466200-106477600	Genic enhancers	HSMM	muscle
11	chr12:106467000-106477600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:106469000-106476200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr12:106469000-106476200	Weak transcription	NHEK	skin
14	chr12:106469000-106476400	Genic enhancers	HSMMtube	muscle
15	chr12:106469000-106477400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:106469000-106490200	Weak transcription	Gastric	stomach
17	chr12:106469000-106499400	Weak transcription	Fetal Intestine Small	intestine
18	chr12:106469200-106476200	Weak transcription	Fetal Brain Male	brain
19	chr12:106469200-106477600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:106471000-106477400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:106471200-106477400	Enhancers	Aorta	Aorta
22	chr12:106471400-106477600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:106471400-106478400	Enhancers	Right Atrium	heart
24	chr12:106471800-106476200	Enhancers	Ovary	ovary
25	chr12:106471800-106476800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:106472000-106477400	Genic enhancers	NH-A	brain
27	chr12:106472000-106477600	Enhancers	NHLF	lung
28	chr12:106472000-106478400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:106472200-106477800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:106472200-106477800	Genic enhancers	A549	lung
31	chr12:106472200-106478000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:106472400-106478000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:106472400-106479400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:106472600-106476600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr12:106472600-106477000	Genic enhancers	HUVEC	blood vessel
36	chr12:106472600-106477600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:106472800-106480400	Weak transcription	Pancreas	Pancrea
38	chr12:106472800-106480600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:106473000-106476600	Weak transcription	HMEC	breast
40	chr12:106473000-106482000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:106473400-106477600	Strong transcription	Fetal Brain Female	brain
42	chr12:106473800-106476400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:106473800-106477400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:106474000-106477400	Weak transcription	Fetal Kidney	kidney
45	chr12:106474600-106476600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr12:106474600-106477000	Enhancers	HepG2	liver
47	chr12:106474600-106477400	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr12:106474600-106477400	Genic enhancers	Brain Hippocampus Middle	brain
49	chr12:106474600-106478000	Weak transcription	Fetal Lung	lung
50	chr12:106474600-106480000	Enhancers	NHDF-Ad	bronchial

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