Variant report

Variant	rs55867508
Chromosome Location	chr8:131174334-131174335
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs55637017	1.00[AMR][1000 genomes];1.00[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]
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]
rs55968438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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]
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]
rs56405390	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6984045	0.91[EUR][1000 genomes]
rs6994242	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:6 , 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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131116000-131193800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr8:131128800-131186800	Weak transcription	Fetal Brain Male	brain
3	chr8:131130400-131180200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:131146600-131178800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:131146600-131206000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:131147400-131194400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr8:131147600-131199800	Weak transcription	Pancreas	Pancrea
8	chr8:131148000-131183800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr8:131148000-131194400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:131149000-131178400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr8:131149200-131178600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr8:131149200-131184400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:131152000-131181000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:131152200-131182200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:131152800-131193600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:131155200-131206800	Weak transcription	Psoas Muscle	Psoas
17	chr8:131155600-131177600	Strong transcription	A549	lung
18	chr8:131156200-131194800	Weak transcription	Fetal Kidney	kidney
19	chr8:131156600-131194200	Weak transcription	GM12878-XiMat	blood
20	chr8:131157600-131180800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr8:131157800-131176200	Strong transcription	Placenta	Placenta
22	chr8:131158000-131178600	Weak transcription	Hela-S3	cervix
23	chr8:131158200-131176000	Strong transcription	Fetal Muscle Leg	muscle
24	chr8:131159400-131194000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:131162400-131174600	Strong transcription	Fetal Muscle Trunk	muscle
26	chr8:131162600-131189600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:131163000-131174800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:131163000-131198400	Weak transcription	Fetal Heart	heart
29	chr8:131164200-131175800	Strong transcription	NHLF	lung
30	chr8:131164200-131177400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:131164200-131186000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:131164400-131177000	Weak transcription	Brain Hippocampus Middle	brain
33	chr8:131164400-131177200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:131164400-131177400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr8:131164400-131196600	Weak transcription	Brain Substantia Nigra	brain
36	chr8:131165000-131177200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:131165400-131194200	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr8:131165800-131176400	Strong transcription	Osteobl	bone
39	chr8:131165800-131177000	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr8:131165800-131181600	Strong transcription	Adipose Nuclei	Adipose
41	chr8:131166200-131175800	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr8:131166200-131176000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:131166200-131176200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:131166200-131177200	Strong transcription	NHDF-Ad	bronchial
45	chr8:131166200-131182200	Strong transcription	NH-A	brain
46	chr8:131166200-131193400	Strong transcription	Primary T cells from cord blood	blood
47	chr8:131166200-131194000	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr8:131166400-131174800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:131166400-131176000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:131166600-131174400	Strong transcription	Sigmoid Colon	Sigmoid Colon

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