Variant report

Variant	rs11242719
Chromosome Location	chr6:1742317-1742318
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1013303	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1040528	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1040530	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12200248	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12206354	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2143402	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34669469	0.92[EUR][1000 genomes]
rs3734739	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3734740	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3734741	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3800031	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3800033	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3800034	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3800035	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3800036	0.83[ASN][1000 genomes]
rs3800037	0.82[ASN][1000 genomes]
rs3823262	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4546532	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4959155	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4959605	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4959608	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57849524	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs61207262	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6596848	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6596849	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6596850	0.83[ASN][1000 genomes]
rs6596853	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6596854	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6596855	0.89[EUR][1000 genomes]
rs66477179	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67800638	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6906968	0.81[EUR][1000 genomes]
rs6911480	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6912189	0.84[ASN][1000 genomes]
rs6914704	0.83[ASN][1000 genomes]
rs6916153	0.83[ASN][1000 genomes]
rs6916760	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6933551	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6935246	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6935905	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs761148	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7740666	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7749846	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7753928	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9391929	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9391930	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9392332	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9392333	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9392335	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9392336	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9503018	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9503019	0.95[AMR][1000 genomes];0.89[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	nsv530548	chr6:1441421-2351608	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv491607	chr6:1580681-1951526	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1020603	chr6:1697548-1921374	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv538093	chr6:1697548-1921374	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv600809	chr6:1732741-1775436	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1701200-1749400	Weak transcription	Colonic Mucosa	Colon
2	chr6:1716000-1749200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr6:1721200-1746200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:1721200-1748800	Weak transcription	Osteobl	bone
5	chr6:1723000-1743200	Strong transcription	HepG2	liver
6	chr6:1726800-1749000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr6:1726800-1749000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr6:1731800-1745000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:1731800-1746200	Weak transcription	Right Atrium	heart
10	chr6:1732200-1744800	Weak transcription	Aorta	Aorta
11	chr6:1732200-1750600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:1732200-1756600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:1736000-1746200	Weak transcription	Esophagus	oesophagus
14	chr6:1736000-1746200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr6:1736400-1746200	Weak transcription	Right Ventricle	heart
16	chr6:1737000-1749000	Weak transcription	Stomach Mucosa	stomach
17	chr6:1737400-1746200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:1738400-1744800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:1738400-1744800	Weak transcription	Pancreas	Pancrea
20	chr6:1738400-1745800	Weak transcription	Fetal Kidney	kidney
21	chr6:1738400-1746200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:1738400-1762400	Weak transcription	Gastric	stomach
23	chr6:1738400-1768200	Weak transcription	Primary T cells from cord blood	blood
24	chr6:1739400-1746000	Weak transcription	HUVEC	blood vessel
25	chr6:1739600-1746000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr6:1740000-1744800	Weak transcription	Spleen	Spleen
27	chr6:1741400-1746200	Weak transcription	Lung	lung
28	chr6:1741600-1743200	Strong transcription	Fetal Intestine Small	intestine
29	chr6:1741600-1746200	Weak transcription	GM12878-XiMat	blood
30	chr6:1741800-1742400	Weak transcription	Fetal Stomach	stomach
31	chr6:1741800-1746200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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