Variant report

Variant	rs57251170
Chromosome Location	chr1:59288826-59288827
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: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	chr1:59279353..59283854-chr1:59287313..59291525,6	MCF-7	breast:
2	chr1:59280920..59283588-chr1:59288340..59291242,3	MCF-7	breast:
3	chr1:59248663..59251846-chr1:59288287..59291612,4	K562	blood:
4	chr1:59243405..59253875-chr1:59275011..59289058,45	MCF-7	breast:
5	chr1:59287687..59290798-chr1:59294339..59296428,3	K562	blood:
6	chr1:59244239..59251448-chr1:59284709..59292858,10	K562	blood:
7	chr1:59247664..59250907-chr1:59288388..59292446,3	MCF-7	breast:
8	chr1:59279921..59284497-chr1:59286325..59289409,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000177606	Chromatin interaction
ENSG00000234807	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12116591	1.00[AFR][1000 genomes]
rs4647011	0.82[AFR][1000 genomes]
rs57263270	0.94[AFR][1000 genomes]
rs58128095	0.94[AFR][1000 genomes]
rs60346486	1.00[AFR][1000 genomes]
rs74077827	1.00[AFR][1000 genomes]
rs74077829	1.00[AFR][1000 genomes]
rs74077830	1.00[AFR][1000 genomes]
rs74077832	1.00[AFR][1000 genomes]
rs74077834	1.00[AFR][1000 genomes]
rs74077835	1.00[AFR][1000 genomes]
rs74077837	1.00[AFR][1000 genomes]
rs74077838	1.00[AFR][1000 genomes]
rs74077839	1.00[AFR][1000 genomes]
rs74077840	1.00[AFR][1000 genomes]
rs74077844	1.00[AFR][1000 genomes]
rs74077847	1.00[AFR][1000 genomes]
rs74077850	1.00[AFR][1000 genomes]
rs74077851	0.94[AFR][1000 genomes]
rs74077854	1.00[AFR][1000 genomes]
rs74077855	1.00[AFR][1000 genomes]
rs74077856	1.00[AFR][1000 genomes]
rs74077866	1.00[AFR][1000 genomes]
rs74077868	1.00[AFR][1000 genomes]
rs74077870	1.00[AFR][1000 genomes]
rs74077873	1.00[AFR][1000 genomes]
rs74078326	1.00[AFR][1000 genomes]
rs74078327	1.00[AFR][1000 genomes]
rs74079803	1.00[AFR][1000 genomes]
rs74079808	0.94[AFR][1000 genomes]
rs74079815	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005354	chr1:59283572-59535812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1014087	chr1:59286306-59334393	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59282400-59289200	Weak transcription	Placenta	Placenta
2	chr1:59282400-59289800	Weak transcription	Gastric	stomach
3	chr1:59282400-59290200	Weak transcription	Lung	lung
4	chr1:59282400-59290400	Weak transcription	Pancreas	Pancrea
5	chr1:59282400-59293800	Weak transcription	Aorta	Aorta
6	chr1:59282600-59290200	Weak transcription	Ovary	ovary
7	chr1:59282600-59290200	Weak transcription	Right Atrium	heart
8	chr1:59282600-59290200	Weak transcription	Right Ventricle	heart
9	chr1:59282800-59289000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:59282800-59289600	Weak transcription	Small Intestine	intestine
11	chr1:59282800-59290200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:59283000-59289200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:59283000-59290400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:59283000-59291800	Weak transcription	Primary T cells from cord blood	blood
15	chr1:59283200-59293600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:59284000-59289400	Weak transcription	Hela-S3	cervix
17	chr1:59284200-59289400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:59284600-59289200	Weak transcription	A549	lung
19	chr1:59285800-59289000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:59285800-59289200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:59285800-59289200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:59285800-59289400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:59285800-59289400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr1:59285800-59289600	Weak transcription	Adipose Nuclei	Adipose
25	chr1:59285800-59290400	Weak transcription	Fetal Intestine Small	intestine
26	chr1:59286000-59289200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:59286000-59289200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:59286000-59289600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr1:59286400-59289200	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr1:59286600-59289200	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr1:59286800-59289200	Weak transcription	Fetal Heart	heart
32	chr1:59287200-59289600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:59287400-59290200	Weak transcription	Left Ventricle	heart
34	chr1:59287400-59291000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:59287600-59290400	Enhancers	NHDF-Ad	bronchial
36	chr1:59287800-59289600	Weak transcription	Esophagus	oesophagus
37	chr1:59288000-59291000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr1:59288600-59290000	Enhancers	NH-A	brain
39	chr1:59288600-59290200	Enhancers	NHLF	lung
40	chr1:59288600-59290400	Enhancers	Osteobl	bone
41	chr1:59288600-59291000	Enhancers	Placenta Amnion	Placenta Amnion
42	chr1:59288600-59291000	Enhancers	HUVEC	blood vessel
43	chr1:59288600-59291800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:59288600-59291800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:59288600-59291800	Enhancers	HMEC	breast
46	chr1:59288800-59289600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:59288800-59290000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:59288800-59290000	Enhancers	HSMM	muscle
49	chr1:59288800-59290400	Enhancers	Muscle Satellite Cultured Cells	--
50	chr1:59288800-59290400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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