Variant report

Variant	rs11719613
Chromosome Location	chr3:67420005-67420006
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1027196	0.92[CEU][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11705924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11706477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11710648	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11715724	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13091433	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1490264	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1490266	0.87[EUR][1000 genomes]
rs1490272	0.84[CEU][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1490273	0.85[CEU][hapmap]
rs1552617	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1552618	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1552624	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1552630	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17046321	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17806805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2363706	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs3206427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3206428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4856845	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs59619050	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59624407	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6548450	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6782456	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6787783	0.86[CEU][hapmap]
rs7433795	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7639918	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7647117	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7648649	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7649144	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs902327	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs9309753	0.92[CEU][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs971316	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs973817	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9831805	0.90[EUR][1000 genomes]
rs9838079	0.91[CEU][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs9843377	0.92[CEU][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9856163	0.92[CEU][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs9860348	0.92[CEU][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs9863572	1.00[AFR][1000 genomes];0.90[EUR][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	nsv1007093	chr3:67113534-67602973	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv470638	chr3:67367341-67814738	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv460700	chr3:67393629-67712970	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv590560	chr3:67393629-67712970	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv834719	chr3:67396626-67589852	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67412400-67453000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr3:67413200-67441800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:67414200-67438800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr3:67414400-67426200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr3:67414400-67470800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr3:67417200-67432600	Weak transcription	A549	lung
7	chr3:67417400-67435800	Weak transcription	Primary B cells from cord blood	blood
8	chr3:67418200-67423800	Weak transcription	Fetal Kidney	kidney
9	chr3:67418400-67432600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr3:67418600-67434600	Weak transcription	Osteobl	bone
11	chr3:67418600-67442600	Weak transcription	Dnd41	blood
12	chr3:67419400-67420200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
13	chr3:67419400-67426000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:67419600-67421000	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr3:67419800-67420200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:67419800-67420200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:67419800-67420200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
18	chr3:67419800-67420200	ZNF genes & repeats	Aorta	Aorta
19	chr3:67419800-67420200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
20	chr3:67419800-67420200	ZNF genes & repeats	Pancreas	Pancrea
21	chr3:67419800-67420200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
22	chr3:67419800-67420400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:67420000-67420200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:67420000-67420200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
25	chr3:67420000-67420200	ZNF genes & repeats	Esophagus	oesophagus
26	chr3:67420000-67420200	ZNF genes & repeats	Fetal Intestine Large	intestine
27	chr3:67420000-67420200	ZNF genes & repeats	Left Ventricle	heart
28	chr3:67420000-67420200	ZNF genes & repeats	Lung	lung
29	chr3:67420000-67420200	ZNF genes & repeats	Right Ventricle	heart
30	chr3:67420000-67420200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
31	chr3:67420000-67420200	ZNF genes & repeats	Spleen	Spleen
32	chr3:67420000-67420200	ZNF genes & repeats	HSMM	muscle
33	chr3:67420000-67420400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
34	chr3:67420000-67424000	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr3:67420000-67432600	Weak transcription	Psoas Muscle	Psoas

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