Variant report

Variant	rs6809031
Chromosome Location	chr3:61225849-61225850
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10049007	0.82[ASN][1000 genomes]
rs10049287	0.82[ASN][1000 genomes]
rs10049452	0.82[ASN][1000 genomes]
rs10049454	0.82[ASN][1000 genomes]
rs11130821	0.89[EUR][1000 genomes]
rs11130822	0.90[EUR][1000 genomes]
rs11130826	0.93[EUR][1000 genomes]
rs11130828	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11707984	0.82[ASN][1000 genomes]
rs11712122	0.82[ASN][1000 genomes]
rs11720254	0.90[EUR][1000 genomes]
rs12492551	0.93[EUR][1000 genomes]
rs12635622	0.82[ASN][1000 genomes]
rs13099397	0.91[ASN][1000 genomes]
rs13320646	0.82[ASN][1000 genomes]
rs1371095	0.82[ASN][1000 genomes]
rs1470035	0.88[EUR][1000 genomes]
rs1524019	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1550343	0.82[ASN][1000 genomes]
rs1554599	0.91[EUR][1000 genomes]
rs1554601	0.82[ASN][1000 genomes]
rs17064630	0.90[EUR][1000 genomes]
rs1916800	0.90[EUR][1000 genomes]
rs1916801	0.90[EUR][1000 genomes]
rs1916802	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1949772	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1980308	0.91[EUR][1000 genomes]
rs1980309	0.91[EUR][1000 genomes]
rs1980310	0.91[EUR][1000 genomes]
rs1980311	0.90[EUR][1000 genomes]
rs2118811	0.82[ASN][1000 genomes]
rs2365389	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34045993	0.89[ASN][1000 genomes]
rs34515056	0.80[EUR][1000 genomes]
rs35198002	0.90[EUR][1000 genomes]
rs4296587	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4535219	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4605537	0.92[EUR][1000 genomes]
rs4688310	0.81[ASN][1000 genomes]
rs4688352	0.87[EUR][1000 genomes]
rs4688354	0.89[EUR][1000 genomes]
rs4688355	0.90[EUR][1000 genomes]
rs4688359	0.80[EUR][1000 genomes]
rs4688379	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56076618	0.82[ASN][1000 genomes]
rs6445196	0.81[ASN][1000 genomes]
rs6445197	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6445198	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6445199	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6445200	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6785875	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6787292	0.90[EUR][1000 genomes]
rs6787313	0.87[EUR][1000 genomes]
rs6807748	0.82[ASN][1000 genomes]
rs71296711	0.93[EUR][1000 genomes]
rs7631101	0.82[ASN][1000 genomes]
rs7631246	0.82[ASN][1000 genomes]
rs7636682	0.82[ASN][1000 genomes]
rs7641177	0.81[ASN][1000 genomes]
rs7647122	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs815709	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs815710	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs815712	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs815715	0.88[EUR][1000 genomes]
rs815717	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs843812	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs863635	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9814044	0.82[ASN][1000 genomes]
rs9831249	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9832387	0.87[EUR][1000 genomes]
rs9832404	0.85[EUR][1000 genomes]
rs9839082	0.82[ASN][1000 genomes]
rs9843007	0.80[EUR][1000 genomes]
rs9844741	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9846073	0.90[EUR][1000 genomes]
rs9850114	0.93[EUR][1000 genomes]
rs9850125	0.82[ASN][1000 genomes]
rs9851485	0.82[ASN][1000 genomes]
rs9855716	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9856859	0.82[EUR][1000 genomes]
rs9859004	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9860681	0.86[EUR][1000 genomes]
rs9871451	0.82[ASN][1000 genomes]
rs9871598	0.82[ASN][1000 genomes]
rs9875827	0.88[EUR][1000 genomes]
rs9882800	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876866	chr3:61054494-61310328	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv876867	chr3:61054494-61474575	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv432423	chr3:61100255-61606060	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1000378	chr3:61103229-61238089	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv876868	chr3:61145050-61282503	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv532626	chr3:61159646-61388418	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1008399	chr3:61176965-61461349	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:61220000-61230000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:61222600-61226600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:61222600-61228000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:61222600-61232800	Weak transcription	Brain Angular Gyrus	brain
5	chr3:61223400-61226200	Enhancers	Brain Hippocampus Middle	brain
6	chr3:61223800-61228200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr3:61224000-61235200	Weak transcription	K562	blood
8	chr3:61224200-61226600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr3:61224600-61226000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr3:61224800-61234400	Weak transcription	GM12878-XiMat	blood
11	chr3:61225400-61227000	Enhancers	Psoas Muscle	Psoas
12	chr3:61225600-61226000	Enhancers	Adipose Nuclei	Adipose
13	chr3:61225600-61226000	Enhancers	Liver	Liver
14	chr3:61225600-61226000	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr3:61225600-61226000	Enhancers	Fetal Thymus	thymus
16	chr3:61225600-61226000	Enhancers	Ovary	ovary
17	chr3:61225600-61226000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr3:61225600-61226200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:61225600-61226200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr3:61225600-61226200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:61225600-61226200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr3:61225600-61226200	Enhancers	Fetal Muscle Trunk	muscle
23	chr3:61225600-61226200	Enhancers	Fetal Stomach	stomach
24	chr3:61225600-61226200	Enhancers	Left Ventricle	heart
25	chr3:61225600-61226200	Enhancers	Lung	lung
26	chr3:61225600-61226200	Enhancers	Right Atrium	heart
27	chr3:61225600-61226200	Enhancers	Right Ventricle	heart
28	chr3:61225600-61226200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr3:61225600-61226200	Enhancers	Spleen	Spleen
30	chr3:61225600-61226600	Enhancers	Fetal Muscle Leg	muscle
31	chr3:61225600-61227000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr3:61225600-61227000	Enhancers	Pancreas	Pancrea
33	chr3:61225600-61228600	Enhancers	H9 Cell Line	embryonic stem cell
34	chr3:61225800-61226000	Enhancers	Brain Anterior Caudate	brain
35	chr3:61225800-61226200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr3:61225800-61226200	Enhancers	Brain Substantia Nigra	brain
37	chr3:61225800-61226200	Enhancers	Duodenum Mucosa	Duodenum
38	chr3:61225800-61226200	Enhancers	Fetal Lung	lung
39	chr3:61225800-61226200	Enhancers	Gastric	stomach
40	chr3:61225800-61226400	Enhancers	Fetal Heart	heart
41	chr3:61225800-61226800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr3:61225800-61227000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr3:61225800-61227400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr3:61225800-61228800	Enhancers	HUES6 Cell Line	embryonic stem cell

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