Variant report

Variant	rs55968438
Chromosome Location	chr8:131218707-131218708
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131213858..131216105-chr8:131217868..131219990,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs55637017	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55642195	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55686856	0.91[EUR][1000 genomes]
rs55692599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55705977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55724400	0.83[AMR][1000 genomes]
rs55758693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55759431	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55821463	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55823176	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55848037	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55867508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55871312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55891945	0.91[EUR][1000 genomes]
rs55961633	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55979731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56194038	0.85[AMR][1000 genomes]
rs56241132	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56285703	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56297697	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56308942	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56313701	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56323699	0.91[EUR][1000 genomes]
rs56336751	0.91[EUR][1000 genomes]
rs56347021	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56349599	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56385215	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56405390	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6984045	0.91[EUR][1000 genomes]
rs6993944	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6994242	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6994477	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6998031	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7004723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7005271	0.96[EUR][1000 genomes]
rs7014892	1.00[AFR][1000 genomes]
rs7815532	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7821742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7836688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131181000-131224600	Weak transcription	Hela-S3	cervix
2	chr8:131181200-131229000	Weak transcription	Aorta	Aorta
3	chr8:131195000-131224200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:131199200-131229200	Weak transcription	Fetal Lung	lung
5	chr8:131200600-131224600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:131200600-131224800	Weak transcription	Placenta	Placenta
7	chr8:131200600-131246600	Weak transcription	Pancreas	Pancrea
8	chr8:131209000-131224200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:131209600-131261200	Weak transcription	Esophagus	oesophagus
10	chr8:131210000-131219600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:131210000-131250400	Weak transcription	Gastric	stomach
12	chr8:131210200-131225000	Weak transcription	Fetal Stomach	stomach
13	chr8:131210200-131230200	Weak transcription	Brain Germinal Matrix	brain
14	chr8:131211200-131218800	Weak transcription	Fetal Intestine Small	intestine
15	chr8:131211400-131219600	Weak transcription	Brain Anterior Caudate	brain
16	chr8:131211400-131225600	Weak transcription	Fetal Heart	heart
17	chr8:131211600-131219600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:131211800-131218800	Weak transcription	NH-A	brain
19	chr8:131211800-131219800	Weak transcription	HSMMtube	muscle
20	chr8:131211800-131224200	Weak transcription	Left Ventricle	heart
21	chr8:131212000-131222800	Weak transcription	Right Ventricle	heart
22	chr8:131213600-131219000	Weak transcription	Liver	Liver
23	chr8:131213600-131219400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:131213600-131224600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:131213600-131231600	Weak transcription	Right Atrium	heart
26	chr8:131213800-131226000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr8:131214000-131255800	Weak transcription	Brain Angular Gyrus	brain
28	chr8:131214200-131224600	Weak transcription	Colon Smooth Muscle	Colon
29	chr8:131214400-131219000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr8:131214400-131219000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:131214400-131228200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr8:131214400-131257000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr8:131214600-131225800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr8:131214600-131238200	Weak transcription	Ovary	ovary
35	chr8:131215200-131218800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr8:131215600-131219800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:131215800-131220000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr8:131215800-131224800	Weak transcription	Lung	lung
39	chr8:131215800-131231600	Weak transcription	Spleen	Spleen
40	chr8:131216000-131218800	Weak transcription	Fetal Muscle Leg	muscle
41	chr8:131216800-131221600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:131216800-131224200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:131217000-131218800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr8:131217000-131219000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:131217000-131219600	Weak transcription	Brain Hippocampus Middle	brain
46	chr8:131217000-131220600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:131217000-131221600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr8:131217000-131224600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr8:131217000-131225000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:131217000-131260600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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