Variant report

Variant	rs676520
Chromosome Location	chr1:211779524-211779525
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45793876..45794427-chr1:211779494..211780080,2	NB4	blood:
2	chr1:211756541..211758387-chr1:211778493..211780947,2	K562	blood:
3	chr1:211749761..211758387-chr1:211774495..211787871,24	K562	blood:
4	chr1:211763176..211765854-chr1:211779475..211781006,2	K562	blood:
5	chr1:211749584..211755940-chr1:211774898..211785859,28	K562	blood:
6	chr1:211777656..211789537-chr1:211792028..211798981,15	K562	blood:
7	chr1:211779113..211779919-chr1:211803601..211804198,2	K562	blood:
8	chr1:211775675..211778278-chr1:211779018..211782912,5	K562	blood:
9	chr1:211759135..211762333-chr1:211776227..211780241,4	K562	blood:
10	chr1:211770870..211774910-chr1:211776208..211782840,10	K562	blood:
11	chr1:211779313..211780104-chr2:113299091..113299810,2	NB4	blood:
12	chr1:211778982..211780566-chr1:211824273..211827147,2	K562	blood:
13	chr1:211762463..211765854-chr1:211778944..211781006,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000125630	Chromatin interaction
ENSG00000170385	Chromatin interaction
ENSG00000222080	Chromatin interaction
ENSG00000261314	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11583462	0.81[ASN][1000 genomes]
rs1867376	1.00[CHB][hapmap]
rs34550869	0.80[AFR][1000 genomes]
rs35258060	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61849053	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6540691	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6661565	1.00[JPT][hapmap]
rs6684175	1.00[CHB][hapmap]
rs6702177	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7520829	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7528646	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7536267	1.00[CHB][hapmap]
rs894856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9429875	1.00[CHB][hapmap]
rs9430073	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9430074	1.00[CHB][hapmap]
rs9430075	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211771600-211786200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:211772600-211780600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:211776400-211779800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:211776800-211779600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:211777000-211779800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:211777000-211780600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:211777000-211780600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:211777000-211781000	Weak transcription	Stomach Mucosa	stomach
9	chr1:211777000-211782600	Weak transcription	Hela-S3	cervix
10	chr1:211777000-211786600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:211777200-211782600	Weak transcription	Osteobl	bone
12	chr1:211777200-211786200	Weak transcription	NHLF	lung
13	chr1:211777400-211780600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:211777400-211784200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:211777400-211784200	Weak transcription	NHDF-Ad	bronchial
16	chr1:211777600-211780600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr1:211777600-211782600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:211778000-211780000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr1:211778000-211780600	Weak transcription	Fetal Intestine Large	intestine
20	chr1:211778200-211781800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:211778400-211781200	Weak transcription	Liver	Liver
22	chr1:211778600-211779800	Weak transcription	Fetal Intestine Small	intestine
23	chr1:211778600-211780400	Active TSS	Placenta	Placenta
24	chr1:211778600-211782600	Weak transcription	A549	lung
25	chr1:211778800-211779600	Enhancers	Primary B cells from peripheral blood	blood
26	chr1:211778800-211780600	Active TSS	K562	blood
27	chr1:211778800-211781000	Flanking Active TSS	GM12878-XiMat	blood
28	chr1:211778800-211781200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr1:211779000-211780600	Active TSS	Duodenum Mucosa	Duodenum
30	chr1:211779000-211781000	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr1:211779000-211781400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr1:211779200-211779800	Enhancers	Primary hematopoietic stem cells	blood
33	chr1:211779200-211779800	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr1:211779200-211780000	Active TSS	Brain Anterior Caudate	brain
35	chr1:211779200-211780400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:211779200-211780400	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr1:211779200-211780400	Active TSS	Adipose Nuclei	Adipose
38	chr1:211779200-211780400	Active TSS	Fetal Muscle Leg	muscle
39	chr1:211779200-211781000	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr1:211779200-211784600	Weak transcription	Right Atrium	heart
41	chr1:211779400-211779600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:211779400-211779600	Enhancers	Lung	lung
43	chr1:211779400-211779800	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr1:211779400-211779800	Active TSS	Colonic Mucosa	Colon
45	chr1:211779400-211780000	Active TSS	Primary T cells from cord blood	blood
46	chr1:211779400-211780000	Enhancers	Fetal Thymus	thymus
47	chr1:211779400-211780000	Enhancers	Small Intestine	intestine
48	chr1:211779400-211780200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr1:211779400-211780200	Active TSS	Rectal Mucosa Donor 31	rectum
50	chr1:211779400-211780200	Active TSS	HepG2	liver

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