Variant report

Variant	rs7978991
Chromosome Location	chr12:59472245-59472246
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12422227	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12422268	1.00[EUR][1000 genomes]
rs12422283	1.00[EUR][1000 genomes]
rs12422465	1.00[EUR][1000 genomes]
rs12423188	1.00[EUR][1000 genomes]
rs12423633	1.00[EUR][1000 genomes]
rs12423917	1.00[EUR][1000 genomes]
rs12424141	1.00[EUR][1000 genomes]
rs12424261	1.00[EUR][1000 genomes]
rs12424293	1.00[EUR][1000 genomes]
rs12424303	1.00[EUR][1000 genomes]
rs12424714	1.00[EUR][1000 genomes]
rs12424915	1.00[EUR][1000 genomes]
rs12425817	1.00[EUR][1000 genomes]
rs12426503	1.00[EUR][1000 genomes]
rs12426529	1.00[EUR][1000 genomes]
rs12426661	1.00[EUR][1000 genomes]
rs12426936	1.00[EUR][1000 genomes]
rs12426958	1.00[EUR][1000 genomes]
rs12426972	1.00[EUR][1000 genomes]
rs12426976	1.00[EUR][1000 genomes]
rs12427374	1.00[EUR][1000 genomes]
rs1500035	1.00[EUR][1000 genomes]
rs1606933	1.00[EUR][1000 genomes]
rs1850127	1.00[EUR][1000 genomes]
rs35087760	1.00[EUR][1000 genomes]
rs3913372	1.00[EUR][1000 genomes]
rs60055169	1.00[EUR][1000 genomes]
rs60819410	1.00[EUR][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	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1047257	chr12:59444966-59520330	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1050662	chr12:59444966-59526442	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59465800-59478000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:59468400-59489000	Weak transcription	Esophagus	oesophagus
3	chr12:59468600-59473000	Enhancers	Fetal Lung	lung
4	chr12:59468800-59474200	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr12:59469000-59472800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:59469600-59472800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:59470000-59472800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:59470000-59474400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:59470200-59474400	Enhancers	Stomach Mucosa	stomach
10	chr12:59470400-59472400	Enhancers	Fetal Intestine Small	intestine
11	chr12:59470400-59472400	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr12:59470600-59473400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr12:59470800-59473200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:59471400-59473000	Enhancers	HUVEC	blood vessel
15	chr12:59471600-59477000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:59471800-59477600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:59471800-59478800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:59471800-59480000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:59472000-59472600	Enhancers	NHEK	skin
20	chr12:59472000-59472800	Weak transcription	Gastric	stomach
21	chr12:59472000-59472800	Weak transcription	Small Intestine	intestine
22	chr12:59472000-59474200	Enhancers	HMEC	breast
23	chr12:59472000-59475400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:59472000-59476200	Weak transcription	Fetal Intestine Large	intestine
25	chr12:59472000-59477800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr12:59472000-59478200	Weak transcription	Fetal Muscle Leg	muscle
27	chr12:59472200-59477000	Weak transcription	Fetal Stomach	stomach
28	chr12:59472200-59477400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:59472200-59477600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:59472200-59477600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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