Variant report

Variant	rs73080000
Chromosome Location	chr1:213077673-213077674
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs35694574	1.00[AMR][1000 genomes]
rs41296720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41300021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41300031	1.00[AFR][1000 genomes]
rs41307644	0.87[AFR][1000 genomes]
rs56697362	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57219112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57638446	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57750357	1.00[AMR][1000 genomes]
rs58103452	0.93[AFR][1000 genomes]
rs58411510	0.93[AFR][1000 genomes]
rs58860298	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59595887	1.00[AMR][1000 genomes]
rs59645180	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61307999	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61531628	0.93[AFR][1000 genomes]
rs73075730	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73075736	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73075738	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73075782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73077863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73077871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73079880	0.82[AFR][1000 genomes]
rs73079886	0.82[AFR][1000 genomes]
rs73079887	0.82[AFR][1000 genomes]
rs73079900	0.93[AFR][1000 genomes]
rs73079978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73079997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73081820	0.93[AFR][1000 genomes]
rs73081821	0.93[AFR][1000 genomes]
rs73081838	0.93[AFR][1000 genomes]
rs73081848	0.93[AFR][1000 genomes]
rs73081859	0.93[AFR][1000 genomes]
rs73081865	0.93[AFR][1000 genomes]
rs73081874	0.93[AFR][1000 genomes]
rs73081896	0.93[AFR][1000 genomes]
rs73083716	0.93[AFR][1000 genomes]
rs73083720	0.93[AFR][1000 genomes]
rs73083723	0.93[AFR][1000 genomes]
rs73083787	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73084238	1.00[AMR][1000 genomes]
rs73084295	1.00[AMR][1000 genomes]
rs73086317	1.00[AMR][1000 genomes]
rs73086335	1.00[AMR][1000 genomes]
rs73086365	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008383	chr1:213025546-213114894	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1007129	chr1:213037244-213083261	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213073200-213079200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr1:213073200-213079400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr1:213073200-213079800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr1:213073600-213079200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr1:213073800-213079200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:213073800-213079200	Weak transcription	Right Atrium	heart
7	chr1:213073800-213089000	Weak transcription	Pancreas	Pancrea
8	chr1:213075200-213079000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
9	chr1:213076400-213078200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:213076800-213079200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:213076800-213083600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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