Variant report

Variant	rs11120004
Chromosome Location	chr1:212894631-212894632
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	chr1:212883928..212885443-chr1:212893940..212896251,2	K562	blood:
2	chr1:212836810..212838698-chr1:212893366..212895753,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11119999	1.00[MEX][hapmap];0.91[AMR][1000 genomes]
rs11120003	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1284857	0.93[YRI][hapmap]
rs1284858	0.93[YRI][hapmap]
rs1472845	0.84[AFR][1000 genomes]
rs2252377	1.00[MEX][hapmap]
rs2262891	0.94[AFR][1000 genomes]
rs2644546	1.00[MEX][hapmap]
rs2940085	0.83[ASW][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes]
rs74138619	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs9430103	0.93[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv549148	chr1:212876902-212962207	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212894400-212894800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:212894400-212895000	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr1:212894400-212897200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr1:212894600-212894800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:212894600-212894800	Flanking Active TSS	K562	blood
6	chr1:212894600-212895000	Enhancers	Colonic Mucosa	Colon
7	chr1:212894600-212895200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:212894600-212895200	Flanking Active TSS	GM12878-XiMat	blood
9	chr1:212894600-212895200	Flanking Active TSS	NHEK	skin
10	chr1:212894600-212895400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:212894600-212895400	Enhancers	Primary T cells fromperipheralblood	blood
12	chr1:212894600-212895400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:212894600-212895400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:212894600-212895400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:212894600-212895400	Enhancers	Placenta	Placenta
16	chr1:212894600-212895400	Flanking Active TSS	HepG2	liver
17	chr1:212894600-212895400	Flanking Active TSS	Osteobl	bone
18	chr1:212894600-212895600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:212894600-212895600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:212894600-212895600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:212894600-212895600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr1:212894600-212895600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:212894600-212895600	Enhancers	Lung	lung
24	chr1:212894600-212895600	Enhancers	HSMM	muscle
25	chr1:212894600-212895600	Enhancers	NH-A	brain
26	chr1:212894600-212895800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:212894600-212895800	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr1:212894600-212895800	Flanking Active TSS	A549	lung
29	chr1:212894600-212895800	Enhancers	Hela-S3	cervix
30	chr1:212894600-212895800	Enhancers	NHDF-Ad	bronchial
31	chr1:212894600-212896000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:212894600-212896200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr1:212894600-212896200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:212894600-212896400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr1:212894600-212896400	Enhancers	HUVEC	blood vessel
36	chr1:212894600-212897200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:212894600-212897200	Enhancers	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links