Variant report

Variant	rs1348799
Chromosome Location	chr8:117860257-117860258
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:117848684..117853710-chr8:117854068..117860611,8	K562	blood:
2	chr8:117857607..117860460-chr8:117874420..117876566,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10094918	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10107209	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10110234	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13276470	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1348796	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16888879	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16888927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888997	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16889014	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16889040	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17426067	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28646042	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28705030	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28877615	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34000422	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.98[ASN][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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv982142	chr8:117857769-117860673	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117848400-117863800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:117852400-117877000	Weak transcription	Fetal Intestine Small	intestine
3	chr8:117852800-117860800	Weak transcription	Small Intestine	intestine
4	chr8:117853000-117881400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:117854800-117863800	Weak transcription	Gastric	stomach
6	chr8:117854800-117875000	Strong transcription	Dnd41	blood
7	chr8:117855200-117861600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:117855200-117870400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:117855400-117872800	Strong transcription	Stomach Smooth Muscle	stomach
10	chr8:117856000-117860400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:117856000-117870600	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr8:117856000-117872800	Strong transcription	Fetal Intestine Large	intestine
13	chr8:117856000-117873000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr8:117856000-117874000	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr8:117856200-117860600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr8:117856200-117869400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:117856200-117872000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr8:117856200-117873800	Strong transcription	Fetal Muscle Trunk	muscle
19	chr8:117856200-117877000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:117856400-117862000	Strong transcription	GM12878-XiMat	blood
21	chr8:117856400-117873000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:117856400-117873000	Strong transcription	Liver	Liver
23	chr8:117856400-117875200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr8:117856400-117878400	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr8:117856400-117879000	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr8:117856400-117882000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:117856600-117861200	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr8:117856600-117867000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
29	chr8:117856600-117875400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr8:117856600-117875800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr8:117856800-117860800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:117856800-117874200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:117856800-117875000	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr8:117856800-117877600	Strong transcription	HSMM	muscle
35	chr8:117856800-117878800	Strong transcription	Fetal Thymus	thymus
36	chr8:117857000-117879200	Strong transcription	Hela-S3	cervix
37	chr8:117857200-117861400	Strong transcription	Osteobl	bone
38	chr8:117857200-117875800	Strong transcription	HUVEC	blood vessel
39	chr8:117857200-117878000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:117857400-117861200	Strong transcription	HSMMtube	muscle
41	chr8:117857400-117861400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:117857400-117872800	Strong transcription	Fetal Muscle Leg	muscle
43	chr8:117857400-117875200	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr8:117857400-117877600	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr8:117857600-117871600	Strong transcription	NH-A	brain
46	chr8:117857600-117873400	Strong transcription	Placenta	Placenta
47	chr8:117857600-117875200	Strong transcription	A549	lung
48	chr8:117857600-117878400	Strong transcription	Duodenum Mucosa	Duodenum
49	chr8:117857800-117875600	Strong transcription	HMEC	breast
50	chr8:117858000-117870800	Strong transcription	Duodenum Smooth Muscle	Duodenum

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