Variant report

Variant	rs56830160
Chromosome Location	chr8:62749518-62749519
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs56016636	0.85[AFR][1000 genomes]
rs56235963	0.85[AFR][1000 genomes]
rs56741469	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs58080416	0.85[AFR][1000 genomes]
rs58710029	0.85[AFR][1000 genomes]
rs58960042	0.84[AFR][1000 genomes]
rs60520860	0.82[AFR][1000 genomes]
rs61568322	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62507583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62507585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471975	0.83[AFR][1000 genomes]
rs73255128	0.85[AFR][1000 genomes]
rs73255155	0.85[AFR][1000 genomes]
rs73255157	0.80[AFR][1000 genomes]
rs73685137	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73685139	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73685145	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73685148	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73685149	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73685159	0.85[AFR][1000 genomes]
rs7820373	0.86[AMR][1000 genomes];0.88[ASN][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	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	esv3363755	chr8:62702301-62764282	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv611427	chr8:62733267-62848952	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv831338	chr8:62736394-62913048	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62739400-62750000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:62745600-62751000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:62748600-62751600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr8:62748600-62752000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr8:62748600-62754000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr8:62748600-62754400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr8:62748800-62749600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:62748800-62749600	Enhancers	H9 Cell Line	embryonic stem cell
9	chr8:62748800-62749600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:62748800-62749600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:62748800-62749600	ZNF genes & repeats	Pancreas	Pancrea
12	chr8:62748800-62749800	Enhancers	Psoas Muscle	Psoas
13	chr8:62748800-62749800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr8:62748800-62750400	Enhancers	Fetal Muscle Leg	muscle
15	chr8:62748800-62751000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr8:62748800-62752400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr8:62748800-62753400	Enhancers	Brain Germinal Matrix	brain
18	chr8:62748800-62754000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr8:62748800-62754000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:62748800-62754000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:62748800-62754200	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr8:62749200-62749600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:62749200-62749600	Enhancers	Lung	lung
24	chr8:62749200-62749800	Enhancers	Fetal Muscle Trunk	muscle
25	chr8:62749200-62750000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:62749200-62750000	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr8:62749200-62750400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr8:62749400-62749800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr8:62749400-62749800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:62749400-62749800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr8:62749400-62750400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:62749400-62751600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr8:62749400-62753800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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