Variant report

Variant	rs6980980
Chromosome Location	chr8:5028538-5028539
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs6989350	0.90[EUR][1000 genomes]
rs6991504	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6997039	0.88[EUR][1000 genomes]
rs7009105	0.90[EUR][1000 genomes]
rs7015034	0.88[EUR][1000 genomes]
rs7015497	0.93[ASN][1000 genomes]
rs7017586	0.93[EUR][1000 genomes]
rs73511440	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73511477	0.93[ASN][1000 genomes]
rs73659756	0.93[EUR][1000 genomes]
rs73659758	0.93[EUR][1000 genomes]
rs7818380	1.00[EUR][1000 genomes]
rs7818985	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv609876	chr8:4494811-5092970	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1029480	chr8:4497596-5081032	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv498130	chr8:4532988-5176376	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1031026	chr8:4771072-5054326	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv889978	chr8:4853197-5460166	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1028846	chr8:4907673-5128665	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1025394	chr8:4939429-5041417	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv889980	chr8:4940320-5112194	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1033108	chr8:4957499-5067611	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv539406	chr8:4957499-5067611	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1028032	chr8:4967369-5032325	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1030930	chr8:4974111-5044712	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	esv2761400	chr8:4990205-5044712	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv831217	chr8:5007449-5210093	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5026200-5030000	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr8:5026400-5028800	Enhancers	H9 Cell Line	embryonic stem cell
3	chr8:5026400-5029200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr8:5026400-5029400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:5026400-5030000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr8:5026400-5030000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr8:5026400-5030200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:5026600-5030400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr8:5026600-5030400	Enhancers	Brain Germinal Matrix	brain
10	chr8:5026800-5030200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr8:5027000-5028800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:5027000-5030000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr8:5027400-5028800	Weak transcription	Fetal Brain Male	brain
14	chr8:5027600-5030600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr8:5028000-5029000	Weak transcription	Fetal Brain Female	brain
16	chr8:5028400-5029600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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