Variant report

Variant	rs4951473
Chromosome Location	chr1:213082267-213082268
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11586329	0.85[AFR][1000 genomes]
rs12087017	0.83[AFR][1000 genomes]
rs12087098	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12135746	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12735579	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12760321	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28826102	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs28886307	0.84[AFR][1000 genomes]
rs4951650	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4951651	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4951652	0.92[AFR][1000 genomes]
rs6660933	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6663568	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6663574	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6671740	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6697099	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6701782	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv3403224	chr1:213081429-213085627	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	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	chr1:213073800-213089000	Weak transcription	Pancreas	Pancrea
2	chr1:213076800-213083600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:213079000-213082600	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr1:213079600-213090000	Weak transcription	Right Atrium	heart
5	chr1:213079800-213082400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:213079800-213082400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:213080600-213083200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:213081400-213082400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr1:213081400-213082800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:213081600-213082400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:213081600-213082600	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr1:213081600-213082800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:213081600-213088000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:213081800-213083000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:213082000-213082400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:213082200-213082400	Enhancers	H1 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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