Variant report

Variant	rs56309319
Chromosome Location	chr8:119877610-119877611
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1389544	0.90[AMR][1000 genomes]
rs28635024	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs61033537	0.90[AMR][1000 genomes]
rs7014945	0.90[AMR][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	nsv891414	chr8:119755490-119881550	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv831444	chr8:119757355-119915966	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv470234	chr8:119856209-119906530	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv517081	chr8:119872439-119886889	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119874000-119878000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:119874000-119878200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:119874000-119878200	Weak transcription	Brain Germinal Matrix	brain
4	chr8:119874400-119878000	Weak transcription	Fetal Lung	lung
5	chr8:119874400-119878000	Weak transcription	Stomach Mucosa	stomach
6	chr8:119874400-119880400	Weak transcription	Aorta	Aorta
7	chr8:119875200-119878000	Weak transcription	Fetal Intestine Small	intestine
8	chr8:119875200-119880200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:119875200-119880400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr8:119875400-119878000	Weak transcription	GM12878-XiMat	blood
11	chr8:119876000-119879200	Weak transcription	Liver	Liver
12	chr8:119876200-119878200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr8:119876200-119878800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:119876200-119879400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr8:119876200-119880000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr8:119876400-119880800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr8:119876800-119879400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:119877000-119878200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr8:119877400-119883400	Enhancers	Fetal Intestine Large	intestine
20	chr8:119877600-119877800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:119877600-119879000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr8:119877600-119879200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr8:119877600-119879200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr8:119877600-119879400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:119877600-119880400	Enhancers	Fetal Kidney	kidney
26	chr8:119877600-119880600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:119877600-119881400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:119877600-119883600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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