Variant report

Variant	rs699800
Chromosome Location	chr1:75140269-75140270
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs624411	1.00[ASN][1000 genomes]
rs696666	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs696667	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs696668	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs696669	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs696672	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs696703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv830248	chr1:74962391-75144458	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv830259	chr1:75089177-75241062	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv461995	chr1:75133142-75166623	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv546578	chr1:75133142-75166623	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75139600-75140400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:75139600-75140800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:75139800-75140400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
4	chr1:75139800-75140400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
5	chr1:75139800-75140400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:75139800-75140400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:75139800-75140400	Enhancers	Ovary	ovary
8	chr1:75139800-75140600	Enhancers	Fetal Brain Male	brain
9	chr1:75140000-75140400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
10	chr1:75140000-75140400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
11	chr1:75140000-75140400	Enhancers	GM12878-XiMat	blood
12	chr1:75140000-75140600	Enhancers	Primary B cells from peripheral blood	blood
13	chr1:75140000-75140800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
14	chr1:75140000-75140800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
15	chr1:75140000-75144400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:75140200-75140400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:75140200-75140400	Flanking Bivalent TSS/Enh	HUES48 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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