Variant report

Variant	rs7301631
Chromosome Location	chr12:104673262-104673263
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104671989..104673947-chr12:104680852..104683749,2	K562	blood:

Variant related genes	Relation type
ENSG00000198431	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10735392	0.92[JPT][hapmap]
rs10735393	1.00[JPT][hapmap]
rs10745995	0.91[JPT][hapmap]
rs10745996	0.91[JPT][hapmap]
rs10778311	0.91[JPT][hapmap]
rs10778316	0.89[JPT][hapmap]
rs10778318	0.91[JPT][hapmap]
rs10778323	0.92[JPT][hapmap]
rs10861202	0.80[ASN][1000 genomes]
rs10861204	0.92[JPT][hapmap]
rs11111960	0.91[JPT][hapmap]
rs11111963	0.91[JPT][hapmap]
rs12424869	0.89[JPT][hapmap]
rs4246269	0.92[JPT][hapmap]
rs4246271	0.92[JPT][hapmap]
rs4964288	0.92[JPT][hapmap]
rs4964735	0.91[JPT][hapmap]
rs4964752	0.91[JPT][hapmap]
rs4964761	0.91[JPT][hapmap]
rs4964779	0.92[JPT][hapmap]
rs6539138	0.92[JPT][hapmap]
rs7138523	0.91[JPT][hapmap]
rs7294997	0.90[JPT][hapmap]
rs7342395	0.91[JPT][hapmap]
rs7962423	0.83[JPT][hapmap]
rs9739833	0.92[JPT][hapmap]

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	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7301631	IGF1	cis	cerebellum	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104667600-104679600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:104670000-104674000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:104670400-104674000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr12:104670400-104674200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:104670400-104679600	Weak transcription	Thymus	Thymus
6	chr12:104670600-104674000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:104670600-104674000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:104670600-104679600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:104670600-104679800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr12:104671400-104673400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:104671400-104674200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:104671600-104674000	Weak transcription	Stomach Mucosa	stomach
13	chr12:104671800-104674200	Weak transcription	HepG2	liver
14	chr12:104672600-104674000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:104672800-104673400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:104672800-104673400	Flanking Active TSS	NHLF	lung
17	chr12:104672800-104673400	Flanking Active TSS	Osteobl	bone
18	chr12:104672800-104673600	Flanking Active TSS	A549	lung
19	chr12:104672800-104673600	Flanking Active TSS	HUVEC	blood vessel
20	chr12:104672800-104674000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:104672800-104674000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr12:104672800-104674000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:104672800-104674200	Enhancers	NHEK	skin
24	chr12:104672800-104674600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:104672800-104674800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:104673000-104673400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:104673000-104673400	Flanking Active TSS	HSMMtube	muscle
28	chr12:104673000-104673400	Flanking Active TSS	NHDF-Ad	bronchial
29	chr12:104673000-104673600	Flanking Active TSS	Hela-S3	cervix
30	chr12:104673000-104676200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr12:104673200-104673400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:104673200-104673400	Enhancers	K562	blood
33	chr12:104673200-104674000	Enhancers	HSMM	muscle
34	chr12:104673200-104674000	Enhancers	NH-A	brain
35	chr12:104673200-104676400	Enhancers	HMEC	breast

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