Variant report

Variant	rs1947095
Chromosome Location	chr5:58567061-58567062
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10491352	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10940644	0.82[EUR][1000 genomes]
rs11959132	0.82[EUR][1000 genomes]
rs12189022	0.92[EUR][1000 genomes]
rs12518773	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12519611	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12521263	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12522944	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1445952	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1445953	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1445954	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1579848	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1579849	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16889479	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16889499	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16889518	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17444185	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17528522	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17528578	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17628114	0.84[ASN][1000 genomes]
rs1823070	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1840846	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1867711	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1867712	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1947090	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2028836	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4700328	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6877508	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[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	nsv598252	chr5:58487764-58618889	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1023628	chr5:58557950-58757438	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv917274	chr5:58565291-58814374	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58553800-58568600	Weak transcription	Fetal Muscle Leg	muscle
2	chr5:58560400-58570000	Weak transcription	Fetal Lung	lung
3	chr5:58561000-58569800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:58561000-58571000	Weak transcription	Left Ventricle	heart
5	chr5:58562800-58568800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr5:58563000-58568200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:58563000-58568200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr5:58563000-58568800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr5:58563000-58569000	Weak transcription	Psoas Muscle	Psoas
10	chr5:58563800-58568600	Weak transcription	Fetal Intestine Large	intestine
11	chr5:58564600-58567400	Transcr. at gene 5' and 3'	A549	lung
12	chr5:58565200-58571000	Weak transcription	Fetal Heart	heart
13	chr5:58565800-58567600	Active TSS	Hela-S3	cervix
14	chr5:58566400-58567600	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr5:58566600-58568400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr5:58566800-58567600	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr5:58567000-58567200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:58567000-58567600	Enhancers	Colon Smooth Muscle	Colon

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