Variant report

Variant	rs56299016
Chromosome Location	chr1:211777207-211777208
allele	G/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211767890..211769411-chr1:211775688..211777230,2	MCF-7	breast:
2	chr1:211750136..211754035-chr1:211775376..211778750,5	MCF-7	breast:
3	chr1:211749761..211758387-chr1:211774495..211787871,24	K562	blood:
4	chr1:211749584..211755940-chr1:211774898..211785859,28	K562	blood:
5	chr1:211759135..211762333-chr1:211776227..211780241,4	K562	blood:
6	chr1:211770870..211774910-chr1:211776208..211782840,10	K562	blood:
7	chr1:211775675..211778278-chr1:211779018..211782912,5	K562	blood:
8	chr1:211775676..211777293-chr1:211832136..211834585,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261314	Chromatin interaction
ENSG00000170385	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11119781	1.00[EUR][1000 genomes]
rs12059593	1.00[EUR][1000 genomes]
rs12059673	1.00[EUR][1000 genomes]
rs12061213	1.00[EUR][1000 genomes]
rs12069828	1.00[EUR][1000 genomes]
rs12084324	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12085440	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12085684	1.00[EUR][1000 genomes]
rs12086556	1.00[EUR][1000 genomes]
rs17017861	1.00[EUR][1000 genomes]
rs28463715	1.00[EUR][1000 genomes]
rs543948	0.80[AFR][1000 genomes]
rs55635902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55766448	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55860373	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58355459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73073399	1.00[EUR][1000 genomes]
rs73075304	1.00[EUR][1000 genomes]
rs73075309	1.00[EUR][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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211771600-211786200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:211772200-211778000	Enhancers	Placenta	Placenta
3	chr1:211772600-211780600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:211775200-211777400	Enhancers	NHDF-Ad	bronchial
5	chr1:211775200-211777600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr1:211775200-211778600	Enhancers	Fetal Intestine Small	intestine
7	chr1:211775400-211777400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:211775400-211777400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:211775400-211777600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:211775400-211777600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:211775400-211777600	Enhancers	Duodenum Mucosa	Duodenum
12	chr1:211775400-211777600	Enhancers	HMEC	breast
13	chr1:211775400-211777600	Enhancers	NHEK	skin
14	chr1:211775400-211778000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:211775400-211778400	Enhancers	Liver	Liver
16	chr1:211775400-211778800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr1:211776000-211777800	Enhancers	K562	blood
18	chr1:211776000-211778400	Weak transcription	GM12878-XiMat	blood
19	chr1:211776200-211778000	Enhancers	Fetal Intestine Large	intestine
20	chr1:211776200-211778000	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr1:211776200-211779200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:211776400-211779000	Weak transcription	Primary B cells from cord blood	blood
23	chr1:211776400-211779800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:211776600-211777400	Enhancers	A549	lung
25	chr1:211776600-211777800	Weak transcription	Small Intestine	intestine
26	chr1:211776800-211779400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr1:211776800-211779600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:211777000-211778000	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr1:211777000-211778400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:211777000-211779200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:211777000-211779200	Weak transcription	Adipose Nuclei	Adipose
32	chr1:211777000-211779400	Flanking Active TSS	HepG2	liver
33	chr1:211777000-211779800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:211777000-211780600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:211777000-211780600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:211777000-211781000	Weak transcription	Stomach Mucosa	stomach
37	chr1:211777000-211782600	Weak transcription	Hela-S3	cervix
38	chr1:211777000-211786600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:211777200-211779400	Weak transcription	Lung	lung
40	chr1:211777200-211782600	Weak transcription	Osteobl	bone
41	chr1:211777200-211786200	Weak transcription	NHLF	lung

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