Variant report

Variant	rs13249741
Chromosome Location	chr8:42799333-42799334
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs13248091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13252221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13256221	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13260731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13269584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13271956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13273189	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13273989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13276426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13276821	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13281651	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13282019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16891667	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17622577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17622732	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34044853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34133016	1.00[AFR][1000 genomes]
rs34143633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34152125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34208103	1.00[AFR][1000 genomes]
rs34210297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34242561	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34320052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34550994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34582788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34668583	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34742882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34920666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35057982	0.98[EUR][1000 genomes]
rs35168459	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35236316	1.00[AFR][1000 genomes]
rs35258203	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs35270980	1.00[AFR][1000 genomes]
rs35278935	1.00[AFR][1000 genomes]
rs35316170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35390123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35441746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35444991	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs35491765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35823486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35959188	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35970125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35984555	1.00[AFR][1000 genomes]
rs36026629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36091568	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4524778	1.00[EUR][1000 genomes]
rs62515895	1.00[AFR][1000 genomes]
rs62515900	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62515905	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62515908	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62515909	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62515910	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62515912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62515913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62515916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62515917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62515919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62515920	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62515948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62515952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62517590	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62517594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62517595	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62517599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62517604	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62517605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62517606	1.00[AMR][1000 genomes]
rs62517626	1.00[AMR][1000 genomes]
rs6999489	0.92[EUR][1000 genomes]
rs71231886	0.87[EUR][1000 genomes]
rs71521598	1.00[AFR][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	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv1032781	chr8:42772394-43461484	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	esv3374088	chr8:42772844-42802608	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42754000-42814200	Weak transcription	Fetal Thymus	thymus
2	chr8:42754400-42806400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr8:42754800-42812600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:42766800-42806800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr8:42772400-42800800	Weak transcription	Colonic Mucosa	Colon
6	chr8:42772600-42815400	Weak transcription	Gastric	stomach
7	chr8:42772600-42815400	Weak transcription	Psoas Muscle	Psoas
8	chr8:42774200-42806400	Weak transcription	Lung	lung
9	chr8:42775600-42814400	Weak transcription	Right Ventricle	heart
10	chr8:42776000-42802600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:42776000-42814400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:42776000-42874800	Weak transcription	Fetal Heart	heart
13	chr8:42776200-42810600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr8:42776400-42807200	Weak transcription	NHDF-Ad	bronchial
15	chr8:42776400-42814200	Weak transcription	Colon Smooth Muscle	Colon
16	chr8:42777200-42805000	Weak transcription	A549	lung
17	chr8:42777400-42814400	Weak transcription	Spleen	Spleen
18	chr8:42779200-42815800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:42781200-42814400	Weak transcription	Pancreas	Pancrea
20	chr8:42782200-42806600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr8:42782600-42815400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr8:42786200-42805200	Weak transcription	Fetal Kidney	kidney
23	chr8:42786400-42800800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr8:42786400-42806600	Weak transcription	NHLF	lung
25	chr8:42786400-42807200	Weak transcription	Esophagus	oesophagus
26	chr8:42786600-42805200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr8:42787800-42801200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr8:42787800-42805200	Weak transcription	HUVEC	blood vessel
29	chr8:42787800-42814200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr8:42787800-42820200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:42788000-42806400	Weak transcription	Thymus	Thymus
32	chr8:42788000-42806600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr8:42788000-42806600	Weak transcription	HepG2	liver
34	chr8:42788000-42806800	Weak transcription	Aorta	Aorta
35	chr8:42788000-42806800	Weak transcription	HSMMtube	muscle
36	chr8:42788000-42807200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:42788000-42814200	Weak transcription	Brain Anterior Caudate	brain
38	chr8:42788000-42815400	Weak transcription	Brain Angular Gyrus	brain
39	chr8:42788800-42814400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr8:42788800-42815000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:42789000-42803800	Weak transcription	HSMM	muscle
42	chr8:42789000-42805200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr8:42789000-42815600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr8:42789800-42809800	Weak transcription	Ovary	ovary
45	chr8:42790000-42805200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:42793800-42802000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:42793800-42805000	Weak transcription	Fetal Muscle Leg	muscle
48	chr8:42793800-42807200	Weak transcription	Brain Substantia Nigra	brain
49	chr8:42793800-42807400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr8:42794000-42805200	Weak transcription	Brain Hippocampus Middle	brain

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