Variant report

Variant	rs12330346
Chromosome Location	chr3:100613293-100613294
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:100611635..100615364-chr3:100616570..100618813,3	K562	blood:
2	chr3:100603772..100606163-chr3:100611320..100613535,2	K562	blood:

Variant related genes	Relation type
ENSG00000154175	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10049238	1.00[JPT][hapmap]
rs1036468	1.00[JPT][hapmap]
rs10511180	1.00[JPT][hapmap]
rs1375510	1.00[JPT][hapmap]
rs1436939	1.00[CHB][hapmap];1.00[GIH][hapmap]
rs1449321	1.00[JPT][hapmap]
rs17338729	1.00[JPT][hapmap]
rs17398137	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs1821795	1.00[JPT][hapmap]
rs2245370	1.00[JPT][hapmap]
rs2252229	1.00[JPT][hapmap]
rs2304513	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs2576367	1.00[JPT][hapmap]
rs2576370	1.00[JPT][hapmap]
rs2576384	1.00[JPT][hapmap]
rs2576389	1.00[JPT][hapmap]
rs2576390	1.00[JPT][hapmap]
rs2595899	1.00[JPT][hapmap]
rs2713750	1.00[JPT][hapmap]
rs2713759	1.00[JPT][hapmap]
rs2713762	1.00[JPT][hapmap]
rs7355920	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs7609734	1.00[JPT][hapmap]
rs7646218	1.00[JPT][hapmap]
rs7647099	1.00[JPT][hapmap]
rs7651634	1.00[JPT][hapmap]
rs9653904	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs9822089	1.00[JPT][hapmap]
rs9824648	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9825288	1.00[JPT][hapmap]
rs9826284	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9827075	1.00[JPT][hapmap]
rs9827694	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9831620	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9843102	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9844950	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9847485	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9860250	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs9862373	1.00[JPT][hapmap]
rs9866199	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9881388	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv514163	chr3:100547342-100670846	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv931417	chr3:100547347-101183844	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12330346	CPOX	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100594400-100618200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr3:100594600-100616800	Weak transcription	Ovary	ovary
3	chr3:100599600-100645400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr3:100599800-100618200	Weak transcription	Fetal Lung	lung
5	chr3:100602200-100616800	Weak transcription	NHDF-Ad	bronchial
6	chr3:100604200-100617000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr3:100610400-100613400	Strong transcription	Fetal Muscle Leg	muscle
8	chr3:100610400-100617600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:100610600-100617000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:100610600-100619200	Weak transcription	Fetal Intestine Large	intestine
11	chr3:100610800-100617000	Weak transcription	HSMM	muscle
12	chr3:100612000-100617000	Weak transcription	Hela-S3	cervix
13	chr3:100612000-100622800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr3:100612200-100632200	Weak transcription	Fetal Stomach	stomach
15	chr3:100612600-100617200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr3:100612800-100614400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:100612800-100616200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:100612800-100617000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:100613000-100616800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr3:100613000-100616800	Weak transcription	HUVEC	blood vessel
21	chr3:100613000-100616800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr3:100613000-100616800	Weak transcription	Osteobl	bone
23	chr3:100613000-100617400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr3:100613000-100618200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:100613200-100613400	ZNF genes & repeats	Colon Smooth Muscle	Colon
26	chr3:100613200-100617000	Weak transcription	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links