Variant report

Variant	rs62496161
Chromosome Location	chr8:9278574-9278575
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10091991	1.00[ASN][1000 genomes]
rs17662946	1.00[ASN][1000 genomes]
rs17730457	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17730505	1.00[ASN][1000 genomes]
rs17730541	1.00[ASN][1000 genomes]
rs34294918	1.00[ASN][1000 genomes]
rs35388965	1.00[ASN][1000 genomes]
rs35637820	1.00[ASN][1000 genomes]
rs62493853	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62493859	1.00[ASN][1000 genomes]
rs62496160	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv949434	chr8:8993551-9318404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1030524	chr8:9183482-9412833	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv2764086	chr8:9216584-9334601	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1026506	chr8:9258997-9338042	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1027325	chr8:9264405-9333207	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9277200-9280000	Enhancers	HepG2	liver
2	chr8:9277800-9279600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr8:9278000-9278600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:9278000-9278800	Enhancers	Fetal Stomach	stomach
5	chr8:9278200-9278600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr8:9278200-9278600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr8:9278200-9278600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:9278200-9278600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr8:9278200-9278600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:9278200-9278600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:9278200-9278600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:9278200-9278600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:9278200-9278600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr8:9278200-9278600	Active TSS	NHDF-Ad	bronchial
15	chr8:9278200-9278800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr8:9278200-9278800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr8:9278200-9278800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr8:9278200-9278800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr8:9278200-9278800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:9278200-9279000	Enhancers	Primary hematopoietic stem cells	blood
21	chr8:9278200-9279000	Enhancers	Liver	Liver
22	chr8:9278400-9278600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr8:9278400-9278800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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