Variant report

Variant	rs73551562
Chromosome Location	chr13:80077417-80077418
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	chr13:80062237..80065016-chr13:80076512..80078758,2	K562	blood:

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs17071373	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17071564	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17071576	1.00[AMR][1000 genomes]
rs17071581	1.00[AMR][1000 genomes]
rs17071592	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17071596	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17071599	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17071601	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17071609	1.00[AMR][1000 genomes]
rs17071610	1.00[AMR][1000 genomes]
rs17071613	1.00[AMR][1000 genomes]
rs17071624	1.00[AMR][1000 genomes]
rs55887763	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56737007	1.00[AMR][1000 genomes]
rs56823234	1.00[AMR][1000 genomes]
rs57066341	1.00[AMR][1000 genomes]
rs57068944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57560404	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57603166	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57615648	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57863151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58006070	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58088304	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58260634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58322995	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58325260	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58379158	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58833188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58930697	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59105864	1.00[AMR][1000 genomes]
rs59232955	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59245717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59331936	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59604922	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59945183	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60119719	0.99[AFR][1000 genomes]
rs60183984	1.00[AMR][1000 genomes]
rs60240323	1.00[AMR][1000 genomes]
rs60575675	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60827595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61216430	1.00[AMR][1000 genomes]
rs61368443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61464969	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7139938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7323341	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7324225	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7328479	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7332059	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7332241	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7337248	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73548917	1.00[AMR][1000 genomes]
rs73548923	1.00[AMR][1000 genomes]
rs73548924	1.00[AMR][1000 genomes]
rs73548926	1.00[AMR][1000 genomes]
rs73548938	1.00[AMR][1000 genomes]
rs73548941	1.00[AMR][1000 genomes]
rs73548942	1.00[AMR][1000 genomes]
rs73549001	1.00[AMR][1000 genomes]
rs73551505	1.00[AMR][1000 genomes]
rs73551522	1.00[AMR][1000 genomes]
rs73551530	1.00[AMR][1000 genomes]
rs73551537	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551544	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551547	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551548	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551551	1.00[AMR][1000 genomes]
rs73551555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551567	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551569	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551570	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551575	1.00[AMR][1000 genomes]
rs73551578	1.00[AMR][1000 genomes]
rs73551581	1.00[AMR][1000 genomes]
rs73551583	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551589	1.00[AMR][1000 genomes]
rs73551592	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551599	1.00[AMR][1000 genomes]
rs73553407	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73553414	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73553416	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73553419	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73553423	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73553442	1.00[AMR][1000 genomes]
rs73553454	1.00[AMR][1000 genomes]
rs73553459	1.00[AMR][1000 genomes]
rs73564691	1.00[AMR][1000 genomes]
rs73566444	1.00[AMR][1000 genomes]
rs74098262	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74100736	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7983904	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7988143	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7990488	0.96[AFR][1000 genomes];1.00[AMR][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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80064800-80084800	Weak transcription	Fetal Intestine Small	intestine
2	chr13:80066800-80084000	Weak transcription	Pancreas	Pancrea
3	chr13:80066800-80122800	Weak transcription	Esophagus	oesophagus
4	chr13:80067200-80095000	Weak transcription	HSMM	muscle
5	chr13:80067400-80079400	Weak transcription	Brain Hippocampus Middle	brain
6	chr13:80070600-80096600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:80071600-80079200	Weak transcription	Gastric	stomach
8	chr13:80072200-80079400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr13:80074000-80078400	Enhancers	Dnd41	blood
10	chr13:80074400-80080600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr13:80075800-80078200	Enhancers	Stomach Mucosa	stomach
12	chr13:80076000-80078200	Enhancers	Fetal Heart	heart
13	chr13:80076000-80099200	Weak transcription	Hela-S3	cervix
14	chr13:80076200-80077800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr13:80076200-80077800	Enhancers	NHEK	skin
16	chr13:80076200-80079400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr13:80076200-80082600	Weak transcription	Osteobl	bone
18	chr13:80076200-80093200	Weak transcription	HMEC	breast
19	chr13:80076400-80078000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr13:80076600-80077600	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr13:80077000-80077800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr13:80077200-80077600	Enhancers	Spleen	Spleen
23	chr13:80077200-80077800	Enhancers	Duodenum Mucosa	Duodenum
24	chr13:80077200-80077800	Enhancers	Right Atrium	heart
25	chr13:80077200-80077800	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr13:80077200-80077800	Enhancers	Small Intestine	intestine
27	chr13:80077200-80077800	Enhancers	K562	blood
28	chr13:80077200-80078000	Enhancers	Left Ventricle	heart
29	chr13:80077200-80078000	Enhancers	Psoas Muscle	Psoas
30	chr13:80077200-80078000	Enhancers	Thymus	Thymus
31	chr13:80077200-80078200	Enhancers	Liver	Liver
32	chr13:80077200-80078200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr13:80077400-80077600	Enhancers	Brain Angular Gyrus	brain
34	chr13:80077400-80077600	Enhancers	Fetal Intestine Large	intestine
35	chr13:80077400-80077600	Enhancers	Right Ventricle	heart
36	chr13:80077400-80077800	Enhancers	Brain Cingulate Gyrus	brain
37	chr13:80077400-80077800	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr13:80077400-80077800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr13:80077400-80078000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr13:80077400-80078000	Enhancers	Ovary	ovary
41	chr13:80077400-80078000	Enhancers	Skeletal Muscle Female	skeletal muscle

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