Variant report

Variant	rs5273
Chromosome Location	chr1:186643768-186643769
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:186638420..186641354-chr1:186642011..186644498,2	MCF-7	breast:
2	chr1:186637647..186639575-chr1:186642756..186645000,2	K562	blood:
3	chr1:186641962..186644518-chr1:186645424..186648177,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs4648293	1.00[AMR][1000 genomes]
rs4648300	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4648301	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs55822551	1.00[AMR][1000 genomes]
rs74134716	1.00[AMR][1000 genomes]
rs74134720	1.00[AMR][1000 genomes]
rs74134722	1.00[AMR][1000 genomes]
rs74134741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134773	1.00[AMR][1000 genomes]
rs74134977	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv2762854	chr1:186547101-186847574	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv470750	chr1:186642429-186700959	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv548403	chr1:186642429-186700959	Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 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	chr1:186632800-186649000	Weak transcription	Fetal Lung	lung
2	chr1:186639400-186645000	Weak transcription	NHDF-Ad	bronchial
3	chr1:186639400-186648400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:186639600-186644600	Weak transcription	Small Intestine	intestine
5	chr1:186640200-186645000	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:186640200-186646600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:186640200-186647800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:186640200-186647800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:186640800-186647800	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr1:186640800-186648000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:186640800-186648200	Weak transcription	Brain Angular Gyrus	brain
12	chr1:186640800-186649200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:186641400-186645000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:186641400-186645400	Strong transcription	HUVEC	blood vessel
15	chr1:186641400-186646000	Strong transcription	NH-A	brain
16	chr1:186641400-186647600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:186641600-186647400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:186641600-186648400	Weak transcription	NHLF	lung
19	chr1:186641800-186646400	Strong transcription	Hela-S3	cervix
20	chr1:186641800-186648400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:186642000-186645200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:186642000-186645200	Weak transcription	Osteobl	bone
23	chr1:186642000-186646800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:186642200-186643800	Weak transcription	Fetal Stomach	stomach
25	chr1:186642200-186645600	Weak transcription	Spleen	Spleen
26	chr1:186642200-186647000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:186642200-186647800	Strong transcription	HMEC	breast
28	chr1:186642200-186649200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:186642200-186649200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr1:186642400-186645800	Strong transcription	Colon Smooth Muscle	Colon
31	chr1:186642400-186649200	Weak transcription	Gastric	stomach
32	chr1:186642600-186648200	Weak transcription	Fetal Intestine Small	intestine
33	chr1:186642800-186647800	Strong transcription	NHEK	skin
34	chr1:186643000-186647800	Weak transcription	Fetal Intestine Large	intestine
35	chr1:186643200-186646000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:186643400-186644600	Strong transcription	Fetal Muscle Leg	muscle
37	chr1:186643400-186646400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:186643400-186647000	Strong transcription	A549	lung
39	chr1:186643600-186643800	ZNF genes & repeats	Left Ventricle	heart
40	chr1:186643600-186643800	ZNF genes & repeats	Ovary	ovary
41	chr1:186643600-186644000	Strong transcription	Adipose Nuclei	Adipose
42	chr1:186643600-186644000	Genic enhancers	Duodenum Smooth Muscle	Duodenum
43	chr1:186643600-186644200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:186643600-186644200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:186643600-186644200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:186643600-186644200	Strong transcription	Lung	lung
47	chr1:186643600-186644400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:186643600-186644400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:186643600-186644400	Strong transcription	Aorta	Aorta
50	chr1:186643600-186645800	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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