Variant report

Variant	rs9442963
Chromosome Location	chr6:74494377-74494378
allele	C/T
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]
rs10498895	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943129	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12662725	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1392913	0.90[AMR][1000 genomes]
rs17760906	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1973480	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2033736	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2047670	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2118330	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2118331	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2118332	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2164755	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2351527	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2351528	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4342388	0.83[AMR][1000 genomes]
rs4706555	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4706556	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4708081	0.90[AMR][1000 genomes]
rs4708082	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4708083	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4708088	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5023688	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6453698	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6453699	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6453700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6917630	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6918612	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6921996	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6922211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7738437	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7742435	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7748237	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7748871	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7762080	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7762433	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7762638	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7763367	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7771585	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7776411	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9293940	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9293941	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9442954	0.85[AMR][1000 genomes]
rs9442955	0.85[AMR][1000 genomes]
rs9442960	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9442961	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9447014	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9447015	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9447016	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9447017	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9447019	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9447025	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9447027	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9447029	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[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	chr6:74444000-74498600	Weak transcription	Fetal Muscle Leg	muscle
4	chr6:74469800-74502800	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr6:74474800-74498200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr6:74475200-74513600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr6:74476000-74510800	Weak transcription	Fetal Heart	heart
8	chr6:74477400-74543400	Weak transcription	Lung	lung
9	chr6:74484400-74505800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:74484600-74495400	Weak transcription	NHEK	skin
11	chr6:74484600-74498000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:74484600-74500200	Weak transcription	Left Ventricle	heart
13	chr6:74484600-74507800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:74484600-74508200	Weak transcription	Colon Smooth Muscle	Colon
15	chr6:74484600-74542000	Weak transcription	Right Ventricle	heart
16	chr6:74484800-74497800	Weak transcription	Adipose Nuclei	Adipose
17	chr6:74484800-74498600	Weak transcription	NH-A	brain
18	chr6:74484800-74508200	Weak transcription	Hela-S3	cervix
19	chr6:74484800-74512600	Weak transcription	HSMM	muscle
20	chr6:74485400-74498400	Weak transcription	Osteobl	bone
21	chr6:74487000-74509600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:74489400-74498200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:74489800-74497600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:74489800-74510000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:74490000-74498000	Strong transcription	HMEC	breast
26	chr6:74490200-74508200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr6:74490400-74495600	Strong transcription	HUVEC	blood vessel
28	chr6:74490400-74527800	Weak transcription	Thymus	Thymus
29	chr6:74490600-74498000	Strong transcription	NHDF-Ad	bronchial
30	chr6:74490600-74503600	Strong transcription	Primary hematopoietic stem cells	blood
31	chr6:74490600-74507400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:74490800-74500200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:74490800-74507200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr6:74491000-74499800	Weak transcription	Primary T cells from cord blood	blood
35	chr6:74491200-74497800	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr6:74491400-74498200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:74491600-74508000	Weak transcription	Brain Anterior Caudate	brain
38	chr6:74491800-74495200	Weak transcription	Fetal Brain Male	brain
39	chr6:74492200-74494400	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr6:74492200-74494600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr6:74492400-74510800	Weak transcription	A549	lung
42	chr6:74492600-74495400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr6:74492600-74504600	Weak transcription	Stomach Mucosa	stomach
44	chr6:74492800-74494400	Enhancers	Fetal Lung	lung
45	chr6:74492800-74497400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:74493400-74494400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:74493400-74495200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:74493400-74497200	Strong transcription	Fetal Muscle Trunk	muscle
49	chr6:74493600-74495000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr6:74493800-74495400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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