Variant report

Variant	rs4651334
Chromosome Location	chr1:186826844-186826845
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10489407	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10732978	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10737270	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10752977	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10752978	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10752979	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10798060	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10798061	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10911933	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10911934	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2205897	0.83[ASN][1000 genomes]
rs4651330	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6425051	0.89[ASN][1000 genomes]
rs6425052	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6425053	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6669230	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6682761	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6685652	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6687896	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6688584	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7521601	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7522183	0.88[ASN][1000 genomes]
rs7532616	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7541946	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv3422700	chr1:186825154-186827702	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
4	esv3365243	chr1:186825429-186827702	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
5	esv3355632	chr1:186825929-186827327	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186800200-186827800	Weak transcription	NHEK	skin
2	chr1:186808600-186828200	Weak transcription	Pancreas	Pancrea
3	chr1:186808600-186830800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:186815200-186844800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:186817800-186839000	Weak transcription	Hela-S3	cervix
6	chr1:186818000-186831000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:186818000-186834600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:186818800-186828600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:186819000-186827800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:186822800-186828200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:186823000-186828000	Weak transcription	Fetal Brain Male	brain
12	chr1:186824200-186832200	Weak transcription	HUVEC	blood vessel
13	chr1:186825400-186827600	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:186825400-186828200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr1:186825400-186828200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:186825400-186829800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:186825400-186843600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr1:186825800-186827800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:186826000-186829400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:186826000-186829600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr1:186826000-186833800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:186826200-186827800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:186826600-186827200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:186826800-186827200	ZNF genes & repeats	Fetal Lung	lung

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