Variant report

Variant	rs12633641
Chromosome Location	chr3:112497225-112497226
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:112490402..112493250-chr3:112496311..112501759,4	K562	blood:
2	chr3:112495297..112498050-chr3:112498718..112501433,2	K562	blood:
3	chr3:112492371..112494990-chr3:112495868..112498193,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12634296	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12636634	1.00[AFR][1000 genomes]
rs1488590	0.91[AFR][1000 genomes]
rs16859996	0.91[AFR][1000 genomes]
rs16860025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16860034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2036938	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2087286	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2895405	0.91[AFR][1000 genomes]
rs4682423	0.91[AFR][1000 genomes]
rs4682425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4682427	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682428	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7611048	1.00[ASN][1000 genomes]
rs7648520	1.00[ASN][1000 genomes]
rs7650843	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv432477	chr3:112390310-112603310	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv877343	chr3:112470586-112597706	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112488000-112501200	Enhancers	NHLF	lung
2	chr3:112490200-112499800	Weak transcription	K562	blood
3	chr3:112491200-112499600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:112491200-112501200	Enhancers	NHDF-Ad	bronchial
5	chr3:112492000-112498000	Weak transcription	Colon Smooth Muscle	Colon
6	chr3:112492200-112501600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:112492200-112502000	Enhancers	NHEK	skin
8	chr3:112492800-112501000	Enhancers	HMEC	breast
9	chr3:112492800-112501000	Enhancers	HSMM	muscle
10	chr3:112492800-112501200	Enhancers	Osteobl	bone
11	chr3:112493000-112500000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:112493000-112500800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:112493200-112498800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr3:112494200-112498000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr3:112494400-112499000	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr3:112494600-112498000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr3:112494800-112498800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr3:112495000-112498800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr3:112495200-112498000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr3:112495200-112499200	Weak transcription	Primary B cells from cord blood	blood
21	chr3:112495200-112501400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:112495200-112512600	Weak transcription	Spleen	Spleen
23	chr3:112495800-112500600	Enhancers	HSMMtube	muscle
24	chr3:112496200-112498400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:112496200-112500000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr3:112496200-112500200	Enhancers	Adipose Nuclei	Adipose
27	chr3:112496400-112498400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:112496400-112498400	Enhancers	NH-A	brain
29	chr3:112496600-112497400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr3:112496600-112498200	Flanking Active TSS	A549	lung
31	chr3:112496600-112500000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:112497000-112497400	Weak transcription	Stomach Mucosa	stomach
33	chr3:112497000-112497800	Weak transcription	Esophagus	oesophagus
34	chr3:112497000-112498200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr3:112497000-112499200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr3:112497200-112497400	Enhancers	Placenta	Placenta
37	chr3:112497200-112497600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:112497200-112500200	Enhancers	Hela-S3	cervix
39	chr3:112497200-112501400	Weak transcription	Placenta Amnion	Placenta Amnion

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