Variant report

Variant	rs56125512
Chromosome Location	chr8:62752072-62752073
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10088053	0.93[ASN][1000 genomes]
rs12544982	0.81[AFR][1000 genomes]
rs12545018	0.81[AFR][1000 genomes]
rs16928033	0.93[ASN][1000 genomes]
rs16928035	0.93[ASN][1000 genomes]
rs1948507	0.81[AFR][1000 genomes]
rs1948508	0.81[AFR][1000 genomes]
rs2350926	0.81[AFR][1000 genomes]
rs28793274	0.93[ASN][1000 genomes]
rs56016636	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56235963	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56741469	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs57225236	0.80[AFR][1000 genomes]
rs57344387	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58080416	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58710029	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58960042	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59120662	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60520860	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61568322	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6471975	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66667350	0.93[ASN][1000 genomes]
rs67870277	0.93[ASN][1000 genomes]
rs6991008	0.93[ASN][1000 genomes]
rs7008718	0.93[ASN][1000 genomes]
rs7012432	0.93[ASN][1000 genomes]
rs7012678	0.93[ASN][1000 genomes]
rs73255128	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73255147	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73255155	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73255157	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73682603	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73682605	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73685132	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73685137	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73685139	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73685145	0.87[EUR][1000 genomes]
rs73685148	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73685149	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73685158	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73685159	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7820373	0.87[AFR][1000 genomes];0.87[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	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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62748600-62754000	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr8:62748600-62754400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr8:62748800-62752400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr8:62748800-62753400	Enhancers	Brain Germinal Matrix	brain
5	chr8:62748800-62754000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr8:62748800-62754000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:62748800-62754000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:62748800-62754200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr8:62749400-62753800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr8:62749600-62752400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:62750800-62752200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr8:62750800-62753400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:62751000-62752600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:62751200-62752600	Enhancers	Fetal Brain Female	brain
15	chr8:62751200-62752800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:62751200-62754800	Enhancers	Primary B cells from peripheral blood	blood
17	chr8:62751400-62752600	Weak transcription	Fetal Brain Male	brain
18	chr8:62751400-62754800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr8:62751600-62752200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr8:62751600-62752200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr8:62751600-62752200	Enhancers	Fetal Lung	lung
22	chr8:62751600-62752400	Enhancers	H9 Cell Line	embryonic stem cell
23	chr8:62751600-62752400	Enhancers	Fetal Muscle Leg	muscle
24	chr8:62751600-62753400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:62751600-62753400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:62751600-62754200	Enhancers	Primary B cells from cord blood	blood
27	chr8:62751800-62752200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:62752000-62752200	Enhancers	Pancreas	Pancrea
29	chr8:62752000-62752600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr8:62752000-62752600	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr8:62752000-62752800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr8:62752000-62753000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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