Variant report

Variant	rs9545129
Chromosome Location	chr13:80095926-80095927
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:80088753..80091957-chr13:80093652..80097974,3	K562	blood:
2	chr13:80094980..80096725-chr13:80098765..80101682,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs11549502	0.83[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11838700	1.00[ASN][1000 genomes]
rs11838769	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11839222	0.89[AMR][1000 genomes]
rs11839689	1.00[ASN][1000 genomes]
rs11840407	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11841756	1.00[ASN][1000 genomes]
rs11843917	1.00[ASN][1000 genomes]
rs1335372	1.00[ASN][1000 genomes]
rs17071492	1.00[ASN][1000 genomes]
rs17071589	1.00[ASN][1000 genomes]
rs17071629	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs17431002	1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4884132	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4885635	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4885639	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4885641	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55820419	1.00[ASN][1000 genomes]
rs56863569	1.00[ASN][1000 genomes]
rs58069884	1.00[ASN][1000 genomes]
rs58233612	1.00[ASN][1000 genomes]
rs58264675	1.00[ASN][1000 genomes]
rs59251364	1.00[ASN][1000 genomes]
rs59319360	1.00[ASN][1000 genomes]
rs60016606	1.00[ASN][1000 genomes]
rs6563111	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs67435118	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7139902	1.00[ASN][1000 genomes]
rs7321672	0.89[AMR][1000 genomes]
rs73234683	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73234690	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73235960	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7325970	1.00[ASN][1000 genomes]
rs7337908	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[ASN][1000 genomes]
rs7338662	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs73548905	1.00[ASN][1000 genomes]
rs73548913	1.00[ASN][1000 genomes]
rs73548931	1.00[ASN][1000 genomes]
rs73548932	1.00[ASN][1000 genomes]
rs73548936	1.00[ASN][1000 genomes]
rs73548939	1.00[ASN][1000 genomes]
rs73548952	1.00[ASN][1000 genomes]
rs73548962	1.00[ASN][1000 genomes]
rs73548974	1.00[ASN][1000 genomes]
rs73551514	1.00[ASN][1000 genomes]
rs73551516	1.00[ASN][1000 genomes]
rs7399942	0.81[EUR][1000 genomes]
rs74098308	1.00[ASN][1000 genomes]
rs74098315	1.00[ASN][1000 genomes]
rs74098399	1.00[ASN][1000 genomes]
rs7983288	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7983312	1.00[ASN][1000 genomes]
rs7983516	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7985220	1.00[ASN][1000 genomes]
rs7985239	1.00[ASN][1000 genomes]
rs7985291	1.00[ASN][1000 genomes]
rs7990729	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7991663	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7992646	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7995350	1.00[ASN][1000 genomes]
rs7995408	1.00[ASN][1000 genomes]
rs7995717	1.00[ASN][1000 genomes]
rs8000301	0.87[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs8002638	1.00[ASN][1000 genomes]
rs9530926	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9530927	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.94[TSI][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9530928	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9530932	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9530933	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9530935	0.81[EUR][1000 genomes]
rs9530936	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9545119	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9545126	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.94[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9545127	0.85[CEU][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9545130	0.85[CEU][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9545132	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9545140	0.81[EUR][1000 genomes]
rs9545141	0.81[EUR][1000 genomes]
rs9545143	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9545144	0.81[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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80066800-80122800	Weak transcription	Esophagus	oesophagus
2	chr13:80070600-80096600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:80076000-80099200	Weak transcription	Hela-S3	cervix
4	chr13:80078000-80097200	Weak transcription	Psoas Muscle	Psoas
5	chr13:80078000-80097800	Weak transcription	Ovary	ovary
6	chr13:80078200-80102000	Weak transcription	Right Ventricle	heart
7	chr13:80079600-80098200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr13:80082800-80096600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr13:80082800-80096600	Weak transcription	Lung	lung
10	chr13:80082800-80108000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr13:80083000-80120000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr13:80083000-80122800	Weak transcription	Stomach Mucosa	stomach
13	chr13:80083400-80096200	Weak transcription	Left Ventricle	heart
14	chr13:80085000-80096800	Weak transcription	Primary T cells from cord blood	blood
15	chr13:80086800-80098400	Weak transcription	Brain Substantia Nigra	brain
16	chr13:80087400-80134000	Weak transcription	Aorta	Aorta
17	chr13:80087400-80134600	Weak transcription	Pancreas	Pancrea
18	chr13:80087800-80096600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr13:80089000-80096600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr13:80089200-80098800	Weak transcription	Brain Angular Gyrus	brain
21	chr13:80089400-80097800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr13:80089400-80098800	Weak transcription	Brain Anterior Caudate	brain
23	chr13:80089400-80098800	Weak transcription	Brain Hippocampus Middle	brain
24	chr13:80089400-80099200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr13:80089400-80118400	Weak transcription	Small Intestine	intestine
26	chr13:80090400-80096600	Weak transcription	HUVEC	blood vessel
27	chr13:80090600-80112000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr13:80090800-80103400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr13:80091000-80099200	Weak transcription	K562	blood
30	chr13:80091400-80096600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr13:80091400-80108000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr13:80091600-80097800	Weak transcription	Fetal Heart	heart
33	chr13:80091600-80097800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr13:80092200-80109400	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr13:80092400-80096200	Weak transcription	Fetal Kidney	kidney
36	chr13:80092400-80096200	Weak transcription	GM12878-XiMat	blood
37	chr13:80092400-80099200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr13:80092400-80102000	Weak transcription	Colonic Mucosa	Colon
39	chr13:80093000-80110200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr13:80093200-80096800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr13:80093400-80097800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr13:80093400-80097800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr13:80093400-80098400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr13:80093400-80104200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr13:80093400-80112800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr13:80093600-80096600	Weak transcription	HepG2	liver
47	chr13:80093600-80096600	Weak transcription	HSMMtube	muscle
48	chr13:80093600-80098400	Weak transcription	Fetal Muscle Leg	muscle
49	chr13:80093600-80108200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr13:80093800-80096400	Genic enhancers	Dnd41	blood

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