Variant report

Variant	rs9293944
Chromosome Location	chr6:74509261-74509262
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10455097	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10805980	0.95[EUR][1000 genomes]
rs10943125	0.82[AMR][1000 genomes]
rs10943126	0.82[AMR][1000 genomes]
rs10943130	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943131	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757360	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12189952	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12209909	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12660627	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12663597	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12663978	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1973482	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1973483	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4706554	0.82[AMR][1000 genomes]
rs4708084	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4708085	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4708086	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4708087	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6453696	0.87[EUR][1000 genomes]
rs6903575	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6907989	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6908109	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6909201	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6918540	0.89[EUR][1000 genomes]
rs6925924	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6939653	0.80[AMR][1000 genomes]
rs71309314	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7745364	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7749499	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7751343	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7751523	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7751558	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7751669	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7751758	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7762920	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7763030	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7763254	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7769064	0.91[EUR][1000 genomes]
rs7772434	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7773872	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7775539	0.80[AMR][1000 genomes]
rs9293942	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9343072	0.87[EUR][1000 genomes]
rs9343075	0.88[EUR][1000 genomes]
rs9343078	0.89[EUR][1000 genomes]
rs9350507	0.89[EUR][1000 genomes]
rs9442959	0.80[AMR][1000 genomes]
rs9442968	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9447004	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9447013	0.85[EUR][1000 genomes]
rs9447030	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs997767	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
2	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
3	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
4	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
5	nsv463154	chr6:74412048-74775904	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv603695	chr6:74412048-74775904	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74438400-74527200	Weak transcription	Esophagus	oesophagus
2	chr6:74441400-74544400	Weak transcription	Aorta	Aorta
3	chr6:74475200-74513600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:74476000-74510800	Weak transcription	Fetal Heart	heart
5	chr6:74477400-74543400	Weak transcription	Lung	lung
6	chr6:74484600-74542000	Weak transcription	Right Ventricle	heart
7	chr6:74484800-74512600	Weak transcription	HSMM	muscle
8	chr6:74487000-74509600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:74489800-74510000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:74490400-74527800	Weak transcription	Thymus	Thymus
11	chr6:74492400-74510800	Weak transcription	A549	lung
12	chr6:74494400-74510800	Weak transcription	Fetal Lung	lung
13	chr6:74494400-74530800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr6:74495400-74533200	Weak transcription	Fetal Stomach	stomach
15	chr6:74496800-74528800	Weak transcription	Dnd41	blood
16	chr6:74499000-74527000	Weak transcription	Fetal Thymus	thymus
17	chr6:74499000-74532600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr6:74499200-74520200	Weak transcription	NHEK	skin
19	chr6:74500600-74525800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr6:74500600-74527600	Weak transcription	Primary T cells from cord blood	blood
21	chr6:74501200-74514000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:74501200-74521600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr6:74503200-74520600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr6:74503400-74520400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr6:74503400-74521600	Weak transcription	Left Ventricle	heart
26	chr6:74503400-74530600	Weak transcription	Fetal Muscle Leg	muscle
27	chr6:74503600-74520800	Weak transcription	Adipose Nuclei	Adipose
28	chr6:74503800-74526600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr6:74506000-74510000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:74506200-74513600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:74506600-74510800	Weak transcription	HUVEC	blood vessel
32	chr6:74507800-74510400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:74508400-74509800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr6:74508400-74510800	Weak transcription	NHLF	lung
35	chr6:74508600-74513600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr6:74508600-74514000	Weak transcription	HMEC	breast
37	chr6:74508600-74516400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr6:74508600-74533000	Weak transcription	Colon Smooth Muscle	Colon
39	chr6:74508800-74509600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:74508800-74510000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:74508800-74511200	Weak transcription	Brain Hippocampus Middle	brain
42	chr6:74508800-74511200	Genic enhancers	NHDF-Ad	bronchial
43	chr6:74508800-74511600	Weak transcription	Osteobl	bone
44	chr6:74508800-74511800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:74508800-74512600	Weak transcription	Hela-S3	cervix
46	chr6:74508800-74512600	Weak transcription	NH-A	brain
47	chr6:74509000-74510000	Enhancers	Placenta	Placenta
48	chr6:74509000-74510600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:74509000-74511000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:74509000-74512000	Weak transcription	Muscle Satellite Cultured Cells	--

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