Variant report

Variant	rs6445791
Chromosome Location	chr3:51601982-51601983
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1055429	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11130293	0.84[AMR][1000 genomes]
rs11721253	0.84[AMR][1000 genomes]
rs4317086	0.84[AMR][1000 genomes]
rs4355273	0.81[AMR][1000 genomes]
rs4611808	0.81[AMR][1000 genomes]
rs4687568	0.81[AMR][1000 genomes]
rs4687721	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4687734	0.88[AMR][1000 genomes]
rs6771081	0.81[AMR][1000 genomes]
rs6775666	0.81[AMR][1000 genomes]
rs6787312	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6793900	0.81[AMR][1000 genomes]
rs6809155	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7372658	0.84[AMR][1000 genomes]
rs9311469	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv997264	chr3:51584056-51689648	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv536570	chr3:51584056-51689648	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv999553	chr3:51584056-51696052	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6445791	TEX264	cis	Esophagus Muscularis	GTEx
rs6445791	TEX264	cis	Stomach	GTEx
rs6445791	TEX264	cis	Nerve Tibial	GTEx
rs6445791	TEX264	cis	Artery Tibial	GTEx

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51574000-51615400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:51574000-51624800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr3:51574200-51616400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:51574400-51613800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr3:51574600-51624600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr3:51574800-51624800	Weak transcription	NH-A	brain
7	chr3:51575200-51615600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr3:51576400-51602000	Weak transcription	Brain Hippocampus Middle	brain
9	chr3:51578600-51607000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr3:51578800-51624400	Weak transcription	Esophagus	oesophagus
11	chr3:51579000-51602000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr3:51579200-51602400	Weak transcription	HMEC	breast
13	chr3:51580000-51602600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:51584200-51602200	Weak transcription	Pancreas	Pancrea
15	chr3:51584200-51602200	Weak transcription	Spleen	Spleen
16	chr3:51584200-51614200	Weak transcription	Aorta	Aorta
17	chr3:51584800-51602200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr3:51585000-51615600	Weak transcription	NHEK	skin
19	chr3:51585200-51624400	Weak transcription	Brain Germinal Matrix	brain
20	chr3:51585400-51602000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr3:51585800-51612400	Weak transcription	Fetal Thymus	thymus
22	chr3:51585800-51625000	Weak transcription	Colonic Mucosa	Colon
23	chr3:51587800-51607000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr3:51587800-51624400	Weak transcription	Hela-S3	cervix
25	chr3:51588000-51612600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr3:51588000-51640000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr3:51588200-51612600	Weak transcription	Lung	lung
28	chr3:51589000-51612400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr3:51589200-51612400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:51590000-51611800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr3:51590800-51607000	Weak transcription	GM12878-XiMat	blood
32	chr3:51591000-51606800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr3:51591200-51612600	Weak transcription	Thymus	Thymus
34	chr3:51591400-51602200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr3:51591400-51612200	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr3:51591600-51602200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr3:51591600-51607000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr3:51592200-51607000	Weak transcription	Fetal Intestine Large	intestine
39	chr3:51592800-51607200	Weak transcription	Primary B cells from peripheral blood	blood
40	chr3:51593600-51615600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr3:51593800-51602000	Weak transcription	Brain Anterior Caudate	brain
42	chr3:51593800-51606800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:51593800-51607000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr3:51593800-51607000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:51594000-51602600	Weak transcription	NHLF	lung
46	chr3:51594000-51606800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr3:51594000-51607000	Weak transcription	Fetal Brain Female	brain
48	chr3:51594000-51615600	Weak transcription	Osteobl	bone
49	chr3:51594200-51602000	Weak transcription	Brain Angular Gyrus	brain
50	chr3:51594200-51602000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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