Variant report

Variant	rs4650712
Chromosome Location	chr1:186937194-186937195
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10157406	0.96[EUR][1000 genomes]
rs10798077	0.96[EUR][1000 genomes]
rs10911978	0.96[EUR][1000 genomes]
rs12720672	0.84[AFR][1000 genomes]
rs12720673	0.95[AFR][1000 genomes]
rs12720686	0.88[AFR][1000 genomes]
rs1555205	0.96[EUR][1000 genomes]
rs2016991	0.96[EUR][1000 genomes]
rs2307198	0.96[EUR][1000 genomes]
rs2383557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4650711	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4650713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4650714	0.96[EUR][1000 genomes]
rs6672835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6674263	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6690278	0.96[EUR][1000 genomes]
rs6696994	0.96[EUR][1000 genomes]
rs6700651	0.96[EUR][1000 genomes]
rs981581	0.96[EUR][1000 genomes]
rs9970500	0.83[EUR][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	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
2	nsv548407	chr1:186875459-186951429	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186881800-186951200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:186919600-186944800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:186920400-186939000	Weak transcription	A549	lung
4	chr1:186923400-186958800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr1:186926800-186951200	Weak transcription	Fetal Intestine Small	intestine
6	chr1:186927400-186943400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:186930200-186943800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:186932400-186937200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr1:186933200-186939400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:186935000-186950800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:186935600-186943400	Weak transcription	Adipose Nuclei	Adipose
12	chr1:186935800-186937400	Enhancers	NHDF-Ad	bronchial
13	chr1:186935800-186947400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:186936000-186943800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:186936000-186944800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:186936000-186949400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:186936200-186937400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:186936200-186948000	Weak transcription	Hela-S3	cervix
19	chr1:186936400-186937200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:186936400-186937600	Enhancers	NH-A	brain
21	chr1:186936600-186937200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:186936600-186937400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr1:186936600-186937400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:186936600-186937600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:186936600-186937600	Enhancers	NHEK	skin
26	chr1:186936600-186942000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr1:186936600-186947000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr1:186936800-186937200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:186936800-186937400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:186936800-186937400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:186936800-186937400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:186936800-186937400	Enhancers	HUVEC	blood vessel
33	chr1:186936800-186937400	Enhancers	Osteobl	bone
34	chr1:186936800-186937600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr1:186936800-186937600	Enhancers	HMEC	breast
36	chr1:186937000-186937400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr1:186937000-186937400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:186937000-186937400	Enhancers	Colon Smooth Muscle	Colon
39	chr1:186937000-186937600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr1:186937000-186937600	Enhancers	Rectal Smooth Muscle	rectum

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