Variant report

Variant	rs11959567
Chromosome Location	chr5:58548363-58548364
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1031197	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10491352	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10940644	1.00[JPT][hapmap]
rs11954668	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11959132	1.00[JPT][hapmap]
rs12518773	0.81[ASN][1000 genomes]
rs12519611	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1445948	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1445952	0.84[ASN][1000 genomes]
rs1445953	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1445954	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1471429	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1471430	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16889479	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs16889499	0.89[ASN][1000 genomes]
rs16889518	0.84[ASN][1000 genomes]
rs17444185	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17528522	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17528578	0.84[ASN][1000 genomes]
rs17628114	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17780175	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1823070	0.89[ASN][1000 genomes]
rs1824157	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1838733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1867711	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1867712	0.89[ASN][1000 genomes]
rs1947090	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2021775	1.00[JPT][hapmap]
rs2028836	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2081106	1.00[JPT][hapmap]
rs2409631	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28862729	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4700325	1.00[JPT][hapmap]
rs4700327	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4700328	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs67196739	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67526430	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6858946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6877508	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6888028	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6891161	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6897568	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs765182	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7703022	1.00[CHB][hapmap]
rs7717303	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7719441	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	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
3	nsv520721	chr5:58520735-58558388	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58527400-58549800	Weak transcription	Aorta	Aorta
2	chr5:58535600-58551800	Weak transcription	HUVEC	blood vessel
3	chr5:58537600-58548600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:58537600-58553000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr5:58541200-58558400	Weak transcription	Pancreas	Pancrea
6	chr5:58541600-58560000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr5:58541600-58562400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr5:58541800-58562800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:58542200-58551600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr5:58542600-58548600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr5:58543200-58552400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr5:58543600-58552200	Weak transcription	Fetal Intestine Large	intestine
13	chr5:58544400-58551400	Weak transcription	Fetal Kidney	kidney
14	chr5:58544400-58553000	Weak transcription	Left Ventricle	heart
15	chr5:58545400-58548400	Weak transcription	Hela-S3	cervix
16	chr5:58546400-58552400	Weak transcription	Psoas Muscle	Psoas
17	chr5:58547000-58548600	Weak transcription	A549	lung
18	chr5:58548000-58549000	Enhancers	Colon Smooth Muscle	Colon
19	chr5:58548000-58549400	Enhancers	Rectal Smooth Muscle	rectum

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