Variant report

Variant	rs6816969
Chromosome Location	chr4:30845667-30845668
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10001740	0.91[ASW][hapmap];0.86[CHB][hapmap];0.86[GIH][hapmap];0.84[LWK][hapmap];0.86[MEX][hapmap];0.89[MKK][hapmap];0.81[TSI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13141110	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1345148	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4692482	0.82[ASW][hapmap]
rs6816968	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7656673	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][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	nsv878810	chr4:30823157-30987395	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv998450	chr4:30823631-31628179	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30838800-30848600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:30839200-30848600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr4:30840200-30846200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:30840400-30845800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr4:30840600-30848400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:30841400-30849800	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:30842000-30854400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:30842400-30846000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr4:30842400-30846400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:30842400-30849000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr4:30842400-30855200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr4:30842600-30845800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr4:30842600-30848400	Weak transcription	Fetal Lung	lung
14	chr4:30842600-30854600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr4:30842600-30855800	Weak transcription	Aorta	Aorta
16	chr4:30843400-30846200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:30844400-30850200	Weak transcription	Fetal Heart	heart
18	chr4:30845600-30846000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:30845600-30847000	Enhancers	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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