Variant report

Variant	rs61676417
Chromosome Location	chr13:80098038-80098039
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:80096791..80099230-chr13:80099804..80101377,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10492579	1.00[EUR][1000 genomes]
rs10507899	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1335373	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1335374	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1414157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17071499	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17071532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17071549	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17071558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17071566	1.00[EUR][1000 genomes]
rs17071574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17071585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17071627	1.00[EUR][1000 genomes]
rs17071632	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41288268	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs56711390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57032852	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57929179	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58056613	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58069884	0.82[EUR][1000 genomes]
rs58406632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59165380	0.89[EUR][1000 genomes]
rs59381369	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59755477	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs59783325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60126328	0.92[EUR][1000 genomes]
rs61318325	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6563117	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7317409	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7317511	1.00[EUR][1000 genomes]
rs7318854	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7327148	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7329633	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7335191	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7338043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73548951	0.92[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs73548955	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs73551558	0.97[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs73551595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73551596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73551597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73551601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73551602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553403	1.00[EUR][1000 genomes]
rs73553418	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73553424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553447	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553448	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73553473	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553481	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73553499	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73555409	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73555411	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73555415	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7491258	0.92[EUR][1000 genomes]
rs7981574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7984159	0.92[EUR][1000 genomes]
rs7984598	0.88[EUR][1000 genomes]
rs7985220	0.82[EUR][1000 genomes]
rs7985697	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7990190	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7990464	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7997554	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7998452	1.00[EUR][1000 genomes]
rs8000870	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]

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	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv523979	chr13:79979679-80120263	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv916983	chr13:80065879-80249702	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80066800-80122800	Weak transcription	Esophagus	oesophagus
2	chr13:80076000-80099200	Weak transcription	Hela-S3	cervix
3	chr13:80078200-80102000	Weak transcription	Right Ventricle	heart
4	chr13:80079600-80098200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr13:80082800-80108000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr13:80083000-80120000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr13:80083000-80122800	Weak transcription	Stomach Mucosa	stomach
8	chr13:80086800-80098400	Weak transcription	Brain Substantia Nigra	brain
9	chr13:80087400-80134000	Weak transcription	Aorta	Aorta
10	chr13:80087400-80134600	Weak transcription	Pancreas	Pancrea
11	chr13:80089200-80098800	Weak transcription	Brain Angular Gyrus	brain
12	chr13:80089400-80098800	Weak transcription	Brain Anterior Caudate	brain
13	chr13:80089400-80098800	Weak transcription	Brain Hippocampus Middle	brain
14	chr13:80089400-80099200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr13:80089400-80118400	Weak transcription	Small Intestine	intestine
16	chr13:80090600-80112000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr13:80090800-80103400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr13:80091000-80099200	Weak transcription	K562	blood
19	chr13:80091400-80108000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr13:80092200-80109400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr13:80092400-80099200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr13:80092400-80102000	Weak transcription	Colonic Mucosa	Colon
23	chr13:80093000-80110200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr13:80093400-80098400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr13:80093400-80104200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr13:80093400-80112800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr13:80093600-80098400	Weak transcription	Fetal Muscle Leg	muscle
28	chr13:80093600-80108200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr13:80093800-80099000	Weak transcription	A549	lung
30	chr13:80093800-80104400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr13:80093800-80109800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr13:80094800-80098800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr13:80095000-80098600	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr13:80095000-80098600	Strong transcription	Placenta	Placenta
35	chr13:80095000-80099200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr13:80095000-80099600	Strong transcription	Adipose Nuclei	Adipose
37	chr13:80095000-80099800	Strong transcription	Duodenum Mucosa	Duodenum
38	chr13:80095000-80100400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr13:80095000-80100600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr13:80095000-80101800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr13:80095000-80102800	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr13:80095200-80100400	Strong transcription	Liver	Liver
43	chr13:80095200-80101400	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr13:80095600-80102400	Strong transcription	Fetal Intestine Large	intestine
45	chr13:80095600-80104200	Weak transcription	Fetal Brain Female	brain
46	chr13:80095600-80108000	Weak transcription	NHDF-Ad	bronchial
47	chr13:80095600-80109000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr13:80095600-80109000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr13:80095800-80099000	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr13:80096200-80098400	Strong transcription	Fetal Kidney	kidney

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