Variant report

Variant	rs56978296
Chromosome Location	chr8:119629641-119629642
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10090978	1.00[ASN][1000 genomes]
rs10095856	1.00[ASN][1000 genomes]
rs10505339	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505340	1.00[ASN][1000 genomes]
rs10505341	1.00[ASN][1000 genomes]
rs16891301	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16891323	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16891338	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030453	0.82[EUR][1000 genomes]
rs2030454	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41423651	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4641102	1.00[ASN][1000 genomes]
rs55666480	1.00[ASN][1000 genomes]
rs56206420	1.00[ASN][1000 genomes]
rs56234774	1.00[ASN][1000 genomes]
rs56707073	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56766049	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56976172	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57258372	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57833773	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58370206	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58752744	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59143029	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59704871	1.00[ASN][1000 genomes]
rs60042461	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60649741	1.00[ASN][1000 genomes]
rs60695012	1.00[ASN][1000 genomes]
rs62531915	1.00[ASN][1000 genomes]
rs62531917	1.00[ASN][1000 genomes]
rs62531929	1.00[ASN][1000 genomes]
rs62531930	1.00[ASN][1000 genomes]
rs6987819	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988736	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7010079	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73313463	1.00[ASN][1000 genomes]
rs73319373	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73319376	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73319379	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73319388	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73319391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73319397	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73319402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321311	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321314	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321315	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321321	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321333	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321347	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321352	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321368	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321374	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321375	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321386	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321387	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321401	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73323004	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73323005	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73323007	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73323008	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73323016	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73708330	1.00[ASN][1000 genomes]
rs73708331	1.00[ASN][1000 genomes]
rs73708333	1.00[ASN][1000 genomes]
rs73708494	1.00[ASN][1000 genomes]
rs73708496	1.00[ASN][1000 genomes]
rs73710214	1.00[ASN][1000 genomes]
rs73710217	1.00[ASN][1000 genomes]
rs7817162	1.00[ASN][1000 genomes]
rs7830872	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891413	chr8:119607281-119679668	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv1814789	chr8:119627671-119672134	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv465786	chr8:119627671-119767165	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv612048	chr8:119627671-119767165	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119605800-119631800	Weak transcription	Fetal Intestine Small	intestine
2	chr8:119609200-119633000	Weak transcription	Gastric	stomach
3	chr8:119609400-119633600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:119619400-119632200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:119623200-119632200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr8:119623800-119632800	Weak transcription	Fetal Lung	lung
7	chr8:119624200-119632800	Weak transcription	Pancreas	Pancrea
8	chr8:119625200-119632000	Weak transcription	Fetal Intestine Large	intestine
9	chr8:119626400-119630600	Enhancers	Brain Angular Gyrus	brain
10	chr8:119626600-119630600	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr8:119626800-119630800	Enhancers	Brain Hippocampus Middle	brain
12	chr8:119627000-119632000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:119627000-119632200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr8:119627000-119632400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:119627200-119633200	Weak transcription	Aorta	Aorta
16	chr8:119627600-119630600	Enhancers	Brain Substantia Nigra	brain
17	chr8:119627600-119632800	Weak transcription	NHEK	skin
18	chr8:119627600-119633600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:119627800-119630000	Enhancers	Brain Cingulate Gyrus	brain
20	chr8:119627800-119632000	Weak transcription	GM12878-XiMat	blood
21	chr8:119627800-119632400	Weak transcription	Left Ventricle	heart
22	chr8:119627800-119632400	Weak transcription	Right Atrium	heart
23	chr8:119627800-119632800	Weak transcription	Colonic Mucosa	Colon
24	chr8:119627800-119632800	Weak transcription	Spleen	Spleen
25	chr8:119628000-119631200	Weak transcription	Lung	lung
26	chr8:119628000-119632800	Weak transcription	Esophagus	oesophagus
27	chr8:119628000-119633000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr8:119629000-119632600	Weak transcription	Brain Anterior Caudate	brain
29	chr8:119629200-119630200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:119629200-119632200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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