Variant report

Variant	rs4949655
Chromosome Location	chr1:77897688-77897689
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	chr1:77897440..77899362-chr1:78468491..78471340,2	K562	blood:

Variant related genes	Relation type
ENSG00000273338	Chromatin interaction
ENSG00000162616	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11800652	1.00[JPT][hapmap]
rs11810135	1.00[JPT][hapmap]
rs12093881	0.83[ASW][hapmap];1.00[GIH][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12564592	0.91[JPT][hapmap]
rs12564604	0.92[JPT][hapmap]
rs12568374	1.00[JPT][hapmap]
rs12568376	1.00[JPT][hapmap]
rs2245189	1.00[JPT][hapmap]
rs2647496	0.91[JPT][hapmap]
rs60009020	0.94[ASN][1000 genomes]
rs6680677	0.92[JPT][hapmap]
rs7532803	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005183	chr1:77728990-77949309	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv535010	chr1:77728990-77949309	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv932557	chr1:77730247-77958687	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1003714	chr1:77756861-77949309	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	esv1848735	chr1:77885282-77918347	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv871605	chr1:77889505-77918347	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4949655	AK5	cis	Whole Blood	GTEx

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77872200-77913800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:77893800-77902600	Weak transcription	Osteobl	bone
3	chr1:77893800-77903600	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:77894200-77905200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:77894200-77912400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:77894200-77912600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:77895200-77898800	Enhancers	Primary T cells fromperipheralblood	blood
8	chr1:77895200-77898800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:77895200-77899000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:77895200-77899400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr1:77895200-77901400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr1:77895400-77902000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr1:77895800-77898000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:77896200-77897800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:77896400-77898000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr1:77896400-77898200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr1:77896600-77897800	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr1:77896600-77897800	Enhancers	Primary B cells from peripheral blood	blood
19	chr1:77896600-77897800	Enhancers	Primary hematopoietic stem cells	blood
20	chr1:77896600-77898000	Enhancers	HMEC	breast
21	chr1:77896600-77898800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:77896800-77897800	Enhancers	Brain Anterior Caudate	brain
23	chr1:77897000-77897800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr1:77897000-77897800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr1:77897000-77903400	Weak transcription	HSMMtube	muscle
26	chr1:77897200-77900600	Weak transcription	HSMM	muscle
27	chr1:77897200-77901800	Weak transcription	NHLF	lung
28	chr1:77897400-77897800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr1:77897400-77898000	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr1:77897400-77898800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:77897400-77901600	Weak transcription	NHDF-Ad	bronchial
32	chr1:77897400-77903000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:77897600-77897800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr1:77897600-77897800	Enhancers	Brain Substantia Nigra	brain
35	chr1:77897600-77898000	Bivalent Enhancer	Primary B cells from cord blood	blood
36	chr1:77897600-77899200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr1:77897600-77899200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:77897600-77900400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:77897600-77900400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr1:77897600-77902400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr1:77897600-77902800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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