Variant report

Variant	rs4648278
Chromosome Location	chr1:186644632-186644633
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186637647..186639575-chr1:186642756..186645000,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11567825	1.00[AMR][1000 genomes]
rs11567831	1.00[AMR][1000 genomes]
rs11567832	1.00[AMR][1000 genomes]
rs12720490	1.00[AMR][1000 genomes]
rs4603085	1.00[AMR][1000 genomes]
rs4648266	1.00[AMR][1000 genomes]
rs4648267	1.00[AMR][1000 genomes]
rs6688060	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:52 , 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	chr1:186640200-186645000	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:186640200-186646600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr1:186640200-186647800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:186640200-186647800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:186640800-186647800	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr1:186640800-186648000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:186640800-186648200	Weak transcription	Brain Angular Gyrus	brain
11	chr1:186640800-186649200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:186641400-186645000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:186641400-186645400	Strong transcription	HUVEC	blood vessel
14	chr1:186641400-186646000	Strong transcription	NH-A	brain
15	chr1:186641400-186647600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:186641600-186647400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:186641600-186648400	Weak transcription	NHLF	lung
18	chr1:186641800-186646400	Strong transcription	Hela-S3	cervix
19	chr1:186641800-186648400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:186642000-186645200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:186642000-186645200	Weak transcription	Osteobl	bone
22	chr1:186642000-186646800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:186642200-186645600	Weak transcription	Spleen	Spleen
24	chr1:186642200-186647000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:186642200-186647800	Strong transcription	HMEC	breast
26	chr1:186642200-186649200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:186642200-186649200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr1:186642400-186645800	Strong transcription	Colon Smooth Muscle	Colon
29	chr1:186642400-186649200	Weak transcription	Gastric	stomach
30	chr1:186642600-186648200	Weak transcription	Fetal Intestine Small	intestine
31	chr1:186642800-186647800	Strong transcription	NHEK	skin
32	chr1:186643000-186647800	Weak transcription	Fetal Intestine Large	intestine
33	chr1:186643200-186646000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:186643400-186646400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:186643400-186647000	Strong transcription	A549	lung
36	chr1:186643600-186645800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr1:186643600-186645800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:186643600-186646800	Strong transcription	Stomach Smooth Muscle	stomach
39	chr1:186643600-186647000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:186643800-186645600	Weak transcription	Left Ventricle	heart
41	chr1:186644000-186647600	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:186644000-186648400	Weak transcription	Adipose Nuclei	Adipose
43	chr1:186644200-186649000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:186644200-186649000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:186644200-186649000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:186644200-186649200	Weak transcription	Lung	lung
47	chr1:186644400-186648400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:186644400-186649000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:186644400-186649200	Weak transcription	Aorta	Aorta
50	chr1:186644600-186648200	Weak transcription	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links