Variant report

Variant	rs6771837
Chromosome Location	chr3:119436759-119436760
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10511394	0.81[CHB][hapmap]
rs10934496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11917710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13082557	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13092631	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1464599	0.81[CHB][hapmap]
rs34205825	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34605021	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34845376	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35010368	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35012220	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35141348	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35228066	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35403027	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35647314	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35864899	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35918837	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35931410	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4234664	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4444744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4544652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4687877	0.92[CEU][hapmap]
rs4688028	0.93[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4688029	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67287047	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6778570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6786722	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6801778	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71325399	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7612861	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7612954	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7613408	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7615769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7617287	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7617290	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7624404	0.90[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7634701	1.00[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7644545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9289134	0.81[CHB][hapmap]
rs9847068	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9848716	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9865270	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460834	chr3:119384163-119458851	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv591390	chr3:119384163-119458851	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv591391	chr3:119403145-119442572	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6771837	MAATS1	cis	Artery Tibial	GTEx
rs6771837	MAATS1	cis	Thyroid	GTEx

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119422200-119458200	Weak transcription	Aorta	Aorta
2	chr3:119422800-119440000	Weak transcription	Brain Angular Gyrus	brain
3	chr3:119423000-119463000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:119423000-119464400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr3:119423200-119464200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr3:119423200-119471600	Weak transcription	Fetal Kidney	kidney
7	chr3:119423400-119458200	Weak transcription	Brain Substantia Nigra	brain
8	chr3:119423800-119449000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr3:119428800-119469200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr3:119431200-119470400	Weak transcription	Gastric	stomach
11	chr3:119433600-119437000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr3:119433800-119437200	Enhancers	Liver	Liver
13	chr3:119434000-119437400	Enhancers	Fetal Intestine Large	intestine
14	chr3:119434200-119436800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:119434200-119438200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:119434600-119436800	Enhancers	Duodenum Mucosa	Duodenum
17	chr3:119434800-119438000	Weak transcription	Fetal Stomach	stomach
18	chr3:119435000-119438800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr3:119435200-119436800	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr3:119435200-119437000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr3:119435200-119437200	Enhancers	Fetal Intestine Small	intestine
22	chr3:119435400-119478200	Weak transcription	Colon Smooth Muscle	Colon
23	chr3:119435600-119436800	Enhancers	Pancreas	Pancrea
24	chr3:119435600-119437200	Enhancers	Stomach Mucosa	stomach
25	chr3:119435800-119436800	Enhancers	Ovary	ovary
26	chr3:119436000-119436800	Strong transcription	Brain Anterior Caudate	brain
27	chr3:119436200-119436800	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr3:119436200-119436800	Enhancers	HepG2	liver
29	chr3:119436600-119436800	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr3:119436600-119436800	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr3:119436600-119437000	Enhancers	Small Intestine	intestine
32	chr3:119436600-119444000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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