Variant report

Variant	rs55924573
Chromosome Location	chr1:190020918-190020919
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11809838	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12082082	1.00[ASN][1000 genomes]
rs16831910	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16832001	1.00[ASN][1000 genomes]
rs16832010	1.00[ASN][1000 genomes]
rs56947177	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6684807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74130834	1.00[ASN][1000 genomes]
rs7517695	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005794	chr1:189488465-190063923	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv497885	chr1:189562225-190086077	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv868954	chr1:189605447-190135265	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv548532	chr1:189758772-190371671	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv917005	chr1:189855484-190259380	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv872748	chr1:189887715-190022936	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv872749	chr1:189887715-190070919	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1008070	chr1:189957274-190059876	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv535243	chr1:189957274-190059876	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv872751	chr1:189973857-190070919	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv832104	chr1:189990148-190186708	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv1011414	chr1:189997632-190055740	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv1014714	chr1:189997930-190056555	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv2750820	chr1:189998057-190052111	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
15	esv2753123	chr1:189998057-190052111	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
16	nsv1005260	chr1:189998057-190055740	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv1012448	chr1:189998057-190056555	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv1012402	chr1:190005333-190052024	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
19	nsv535245	chr1:190005333-190052024	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
20	nsv932040	chr1:190005334-190914580	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
21	nsv518715	chr1:190009701-190042706	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190018800-190021200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr1:190019800-190021400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:190020400-190021800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr1:190020600-190021200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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