Variant report

Variant	rs6991613
Chromosome Location	chr8:62753283-62753284
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs16928003	0.87[EUR][1000 genomes]
rs16928014	0.87[EUR][1000 genomes]
rs16928021	0.81[EUR][1000 genomes]
rs16928027	0.81[EUR][1000 genomes]
rs16928043	0.81[EUR][1000 genomes]
rs6994589	0.93[EUR][1000 genomes]
rs7004538	0.81[EUR][1000 genomes]
rs7012433	0.87[EUR][1000 genomes]
rs72660969	1.00[EUR][1000 genomes]
rs72660970	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72660973	1.00[EUR][1000 genomes]
rs72660974	1.00[EUR][1000 genomes]
rs72660976	1.00[EUR][1000 genomes]
rs72660977	1.00[EUR][1000 genomes]
rs72660978	1.00[EUR][1000 genomes]
rs72660980	1.00[EUR][1000 genomes]
rs72660982	0.87[EUR][1000 genomes]
rs72660983	0.87[EUR][1000 genomes]
rs72660991	0.87[EUR][1000 genomes]
rs72660993	0.87[EUR][1000 genomes]
rs72660996	0.87[EUR][1000 genomes]
rs72660998	0.87[EUR][1000 genomes]
rs72660999	0.87[EUR][1000 genomes]
rs72662613	0.81[EUR][1000 genomes]
rs72662617	0.81[EUR][1000 genomes]
rs72662620	0.81[EUR][1000 genomes]
rs72662627	0.81[EUR][1000 genomes]
rs72662636	0.81[EUR][1000 genomes]
rs72662640	0.81[EUR][1000 genomes]
rs72662649	0.81[EUR][1000 genomes]
rs7828781	1.00[EUR][1000 genomes]
rs7840693	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:26 , 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	chr8:62748800-62753400	Enhancers	Brain Germinal Matrix	brain
4	chr8:62748800-62754000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr8:62748800-62754000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:62748800-62754000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:62748800-62754200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr8:62749400-62753800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr8:62750800-62753400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:62751200-62754800	Enhancers	Primary B cells from peripheral blood	blood
11	chr8:62751400-62754800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr8:62751600-62753400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:62751600-62753400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:62751600-62754200	Enhancers	Primary B cells from cord blood	blood
15	chr8:62752200-62753600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:62752600-62753400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:62752600-62753600	Enhancers	Fetal Brain Male	brain
18	chr8:62752600-62753600	Weak transcription	Fetal Brain Female	brain
19	chr8:62752800-62754000	Enhancers	H9 Cell Line	embryonic stem cell
20	chr8:62752800-62754000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr8:62752800-62754200	Enhancers	Primary T cells from cord blood	blood
22	chr8:62752800-62754400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr8:62752800-62754800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr8:62753000-62753400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr8:62753000-62753600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:62753000-62754200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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