Variant report

Variant	rs6658299
Chromosome Location	chr1:212895479-212895480
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212873103..212876136-chr1:212895227..212897615,4	K562	blood:
2	chr1:212890618..212893441-chr1:212895011..212896992,2	K562	blood:
3	chr1:212883928..212885443-chr1:212893940..212896251,2	K562	blood:
4	chr1:212836810..212838698-chr1:212893366..212895753,2	K562	blood:

Variant related genes	Relation type
ENSG00000123685	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs34363978	1.00[AMR][1000 genomes]
rs35464401	0.86[AFR][1000 genomes]
rs41300967	1.00[AMR][1000 genomes]
rs59478106	1.00[AMR][1000 genomes]
rs6671764	0.86[AFR][1000 genomes]
rs7517894	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9659128	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212894400-212897200	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr1:212894600-212895600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:212894600-212895600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:212894600-212895600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:212894600-212895600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr1:212894600-212895600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:212894600-212895600	Enhancers	Lung	lung
8	chr1:212894600-212895600	Enhancers	HSMM	muscle
9	chr1:212894600-212895600	Enhancers	NH-A	brain
10	chr1:212894600-212895800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:212894600-212895800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr1:212894600-212895800	Flanking Active TSS	A549	lung
13	chr1:212894600-212895800	Enhancers	Hela-S3	cervix
14	chr1:212894600-212895800	Enhancers	NHDF-Ad	bronchial
15	chr1:212894600-212896000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:212894600-212896200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:212894600-212896200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:212894600-212896400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr1:212894600-212896400	Enhancers	HUVEC	blood vessel
20	chr1:212894600-212897200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:212894600-212897200	Enhancers	Dnd41	blood
22	chr1:212894800-212895600	Enhancers	Duodenum Mucosa	Duodenum
23	chr1:212894800-212895600	Enhancers	HMEC	breast
24	chr1:212894800-212895800	Enhancers	Stomach Mucosa	stomach
25	chr1:212894800-212895800	Enhancers	NHLF	lung
26	chr1:212894800-212896000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:212895000-212895600	Flanking Active TSS	K562	blood
28	chr1:212895000-212896200	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr1:212895000-212896400	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr1:212895200-212895600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:212895200-212895600	Enhancers	Gastric	stomach
32	chr1:212895200-212895600	Enhancers	GM12878-XiMat	blood
33	chr1:212895200-212895600	Enhancers	NHEK	skin
34	chr1:212895200-212922800	Weak transcription	Left Ventricle	heart
35	chr1:212895400-212895600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:212895400-212895600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:212895400-212895600	Enhancers	Osteobl	bone
38	chr1:212895400-212895800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:212895400-212895800	Enhancers	Small Intestine	intestine
40	chr1:212895400-212896000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:212895400-212896800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr1:212895400-212897400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:212895400-212897400	Enhancers	HepG2	liver
44	chr1:212895400-212899800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:212895400-212901800	Weak transcription	Liver	Liver
46	chr1:212895400-212902000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr1:212895400-212902400	Weak transcription	Primary T cells from cord blood	blood
48	chr1:212895400-212906000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:212895400-212906600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr1:212895400-212912000	Weak transcription	Primary T cells fromperipheralblood	blood

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