Variant report

Variant	rs62357969
Chromosome Location	chr5:58466987-58466988
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10461658	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62356725	0.81[ASN][1000 genomes]
rs62356727	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62356729	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62356730	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62356731	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62357962	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357963	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62357965	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357966	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357967	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357968	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357971	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357972	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357973	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6863716	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6877256	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv881702	chr5:58432413-58474854	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv3400708	chr5:58466820-58469443	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58439000-58484000	Weak transcription	Fetal Kidney	kidney
2	chr5:58447600-58473200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:58447600-58473400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr5:58447600-58479600	Weak transcription	Left Ventricle	heart
5	chr5:58449400-58473600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr5:58449800-58489400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:58454400-58472800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr5:58455200-58473400	Weak transcription	Fetal Muscle Leg	muscle
9	chr5:58455800-58473600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr5:58457800-58473400	Weak transcription	Fetal Intestine Small	intestine
11	chr5:58459400-58473400	Weak transcription	Fetal Stomach	stomach
12	chr5:58460000-58472600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr5:58460800-58469400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:58461000-58484200	Weak transcription	HUVEC	blood vessel
15	chr5:58461600-58467000	Genic enhancers	A549	lung
16	chr5:58464200-58484000	Weak transcription	Brain Anterior Caudate	brain
17	chr5:58464200-58485400	Weak transcription	Aorta	Aorta
18	chr5:58464400-58473000	Weak transcription	Right Ventricle	heart
19	chr5:58464600-58474400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:58464800-58478800	Weak transcription	Hela-S3	cervix
21	chr5:58465600-58470400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr5:58465800-58469400	Weak transcription	HSMM	muscle
23	chr5:58466000-58472800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr5:58466000-58473600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr5:58466200-58473600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr5:58466200-58474400	Weak transcription	Colon Smooth Muscle	Colon
27	chr5:58466200-58479400	Weak transcription	Psoas Muscle	Psoas

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