Variant report

Variant	rs12664423
Chromosome Location	chr6:101234788-101234789
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:101232498..101235152-chr6:101238676..101241489,3	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10457849	0.82[ASN][1000 genomes]
rs1070990	0.81[ASN][1000 genomes]
rs10872628	0.81[ASN][1000 genomes]
rs11155606	0.81[ASN][1000 genomes]
rs11155610	0.81[ASN][1000 genomes]
rs11155659	0.81[ASN][1000 genomes]
rs11155666	0.82[ASN][1000 genomes]
rs12174782	0.80[CHB][hapmap]
rs12189562	0.81[ASN][1000 genomes]
rs12190574	0.81[ASN][1000 genomes]
rs12210550	0.82[ASN][1000 genomes]
rs12216304	0.81[ASN][1000 genomes]
rs4571568	0.81[ASN][1000 genomes]
rs592436	0.80[CHB][hapmap];0.88[MEX][hapmap]
rs6570922	0.81[ASN][1000 genomes]
rs705583	0.81[ASN][1000 genomes]
rs705584	0.81[ASN][1000 genomes]
rs705585	0.81[ASN][1000 genomes]
rs705599	0.80[CHB][hapmap];0.88[MEX][hapmap]
rs705605	0.80[CHB][hapmap]
rs705607	0.80[CHB][hapmap];0.88[MEX][hapmap]
rs705608	0.80[CHB][hapmap]
rs846794	0.80[CHB][hapmap]
rs846798	0.80[CHB][hapmap];0.88[MEX][hapmap]
rs846800	0.83[ASN][1000 genomes]
rs846803	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949535	chr6:100740293-101469052	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh 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
2	nsv886445	chr6:101004751-101240763	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv886456	chr6:101049108-101277926	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1020692	chr6:101136992-101426071	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv604275	chr6:101158950-101277926	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv886457	chr6:101158950-101487473	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1016353	chr6:101172705-101304041	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1020400	chr6:101172705-101981665	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv538390	chr6:101172705-101981665	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv1024526	chr6:101192726-101241291	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv1019213	chr6:101225650-101623140	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv538391	chr6:101225650-101623140	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12664423	ART3	trans	cerebellum	SCAN

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101184400-101304600	Weak transcription	Hela-S3	cervix
2	chr6:101191400-101277000	Weak transcription	Esophagus	oesophagus
3	chr6:101212000-101246400	Weak transcription	Psoas Muscle	Psoas
4	chr6:101212000-101276200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:101212000-101281400	Weak transcription	Aorta	Aorta
6	chr6:101213200-101242800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:101213400-101244000	Weak transcription	HSMMtube	muscle
8	chr6:101213600-101241600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr6:101213600-101256000	Weak transcription	Ovary	ovary
10	chr6:101213600-101281600	Weak transcription	Gastric	stomach
11	chr6:101213800-101237000	Weak transcription	Primary T cells from cord blood	blood
12	chr6:101213800-101250800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:101213800-101254200	Weak transcription	Fetal Thymus	thymus
14	chr6:101214600-101236400	Weak transcription	GM12878-XiMat	blood
15	chr6:101214800-101281600	Weak transcription	Left Ventricle	heart
16	chr6:101215200-101237000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:101215200-101237400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:101215200-101242200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr6:101215200-101244000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr6:101215200-101244000	Weak transcription	Liver	Liver
21	chr6:101215200-101244000	Weak transcription	Placenta	Placenta
22	chr6:101215200-101247000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr6:101215200-101252600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr6:101215200-101256200	Weak transcription	Osteobl	bone
25	chr6:101215200-101263000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr6:101215200-101311400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr6:101215400-101234800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:101215400-101239800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr6:101215400-101242000	Weak transcription	Primary B cells from cord blood	blood
30	chr6:101215400-101243400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:101215400-101243400	Weak transcription	NHDF-Ad	bronchial
32	chr6:101215400-101243600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:101215400-101243600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr6:101215400-101244000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr6:101215400-101244000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr6:101215400-101258600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr6:101215600-101242400	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr6:101215600-101242600	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr6:101216200-101241800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:101223000-101244200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:101223000-101256800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:101223400-101242200	Weak transcription	NH-A	brain
43	chr6:101223400-101243600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:101226000-101243600	Weak transcription	HSMM	muscle
45	chr6:101226000-101281400	Weak transcription	HUVEC	blood vessel
46	chr6:101226600-101237800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:101228800-101236400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:101231200-101242800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr6:101231800-101237600	Weak transcription	Dnd41	blood
50	chr6:101232000-101236600	Weak transcription	Brain Substantia Nigra	brain

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