Variant report

Variant	rs17071558
Chromosome Location	chr13:80101507-80101508
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:80094980..80096725-chr13:80098765..80101682,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10492579	0.92[EUR][1000 genomes]
rs10507898	1.00[CEU][hapmap]
rs10507899	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1335373	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1335374	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1414157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17071247	1.00[CEU][hapmap]
rs17071257	1.00[CEU][hapmap]
rs17071385	1.00[CEU][hapmap]
rs17071415	1.00[CEU][hapmap]
rs17071499	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17071532	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17071549	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17071566	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17071574	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17071585	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17071627	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17071632	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs41288268	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs56711390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57032852	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57929179	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58056613	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58406632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59165380	0.82[EUR][1000 genomes]
rs59381369	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59755477	0.92[AFR][1000 genomes]
rs59783325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60126328	0.85[EUR][1000 genomes]
rs61318325	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61676417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6563107	1.00[CEU][hapmap]
rs6563117	1.00[CEU][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7317409	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7317511	0.92[EUR][1000 genomes]
rs7318854	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7327148	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7329633	0.92[AFR][1000 genomes]
rs7331979	1.00[CEU][hapmap]
rs7335191	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7338043	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73548951	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs73548955	0.95[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs73551558	0.97[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs73551595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73551596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73551597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73551601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73551602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73553403	0.92[EUR][1000 genomes]
rs73553418	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73553424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73553431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73553447	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73553448	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73553473	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73553481	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73553499	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73555409	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73555411	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73555415	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7491258	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs7981574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7984159	0.85[EUR][1000 genomes]
rs7984598	0.81[EUR][1000 genomes]
rs7985697	0.95[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7990190	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7990464	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7992181	1.00[CEU][hapmap]
rs7997554	1.00[CEU][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7998452	0.92[EUR][1000 genomes]
rs8000870	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80066800-80122800	Weak transcription	Esophagus	oesophagus
2	chr13:80078200-80102000	Weak transcription	Right Ventricle	heart
3	chr13:80082800-80108000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr13:80083000-80120000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:80083000-80122800	Weak transcription	Stomach Mucosa	stomach
6	chr13:80087400-80134000	Weak transcription	Aorta	Aorta
7	chr13:80087400-80134600	Weak transcription	Pancreas	Pancrea
8	chr13:80089400-80118400	Weak transcription	Small Intestine	intestine
9	chr13:80090600-80112000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr13:80090800-80103400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr13:80091400-80108000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr13:80092200-80109400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr13:80092400-80102000	Weak transcription	Colonic Mucosa	Colon
14	chr13:80093000-80110200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr13:80093400-80104200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr13:80093400-80112800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr13:80093600-80108200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr13:80093800-80104400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr13:80093800-80109800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr13:80095000-80101800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr13:80095000-80102800	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr13:80095600-80102400	Strong transcription	Fetal Intestine Large	intestine
23	chr13:80095600-80104200	Weak transcription	Fetal Brain Female	brain
24	chr13:80095600-80108000	Weak transcription	NHDF-Ad	bronchial
25	chr13:80095600-80109000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr13:80095600-80109000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr13:80097000-80102800	Weak transcription	Fetal Stomach	stomach
28	chr13:80097000-80108000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr13:80097000-80109200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr13:80097000-80110400	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr13:80097000-80112400	Weak transcription	Thymus	Thymus
32	chr13:80097200-80101800	Strong transcription	Primary T cells from cord blood	blood
33	chr13:80097200-80104400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr13:80097200-80104600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr13:80097200-80108600	Weak transcription	HSMMtube	muscle
36	chr13:80097200-80112400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr13:80097200-80122800	Weak transcription	Fetal Lung	lung
38	chr13:80097400-80106600	Genic enhancers	Dnd41	blood
39	chr13:80097400-80108600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr13:80097400-80121800	Weak transcription	Lung	lung
41	chr13:80097800-80110800	Weak transcription	Fetal Intestine Small	intestine
42	chr13:80098000-80102400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr13:80098000-80102400	Genic enhancers	NHEK	skin
44	chr13:80098000-80112600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr13:80098200-80111000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr13:80098400-80114200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr13:80098400-80123200	Weak transcription	Fetal Kidney	kidney
48	chr13:80098600-80107800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr13:80098600-80108200	Weak transcription	Ovary	ovary
50	chr13:80098600-80135000	Weak transcription	Placenta	Placenta

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