Variant report

Variant	rs3846988
Chromosome Location	chr7:11665731-11665732
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10276290	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10486146	0.83[CHD][hapmap]
rs10486147	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.90[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs17164930	0.85[TSI][hapmap]
rs17164940	0.81[CHD][hapmap]
rs17164946	0.81[CHD][hapmap]
rs3846987	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4324838	0.90[ASN][1000 genomes]
rs59757579	0.89[ASN][1000 genomes]
rs6460830	0.94[CHB][hapmap]
rs6951815	0.82[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6980392	0.85[AFR][1000 genomes]
rs73290902	0.95[ASN][1000 genomes]
rs73676052	0.91[EUR][1000 genomes]
rs73676054	0.80[EUR][1000 genomes]
rs9638674	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028326	chr7:11221209-11754436	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv538733	chr7:11221209-11754436	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1023665	chr7:11457493-11773517	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv887606	chr7:11473561-11771288	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11660800-11681400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr7:11664200-11671200	Weak transcription	Fetal Lung	lung
3	chr7:11664800-11666400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:11665000-11665800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:11665000-11665800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr7:11665000-11665800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr7:11665000-11665800	Enhancers	Liver	Liver
8	chr7:11665000-11666000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:11665200-11665800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:11665200-11665800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr7:11665200-11665800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:11665200-11665800	Flanking Active TSS	A549	lung
13	chr7:11665200-11675400	Weak transcription	Placenta	Placenta
14	chr7:11665400-11665800	Enhancers	Adipose Nuclei	Adipose
15	chr7:11665400-11665800	Enhancers	Hela-S3	cervix
16	chr7:11665400-11665800	Flanking Active TSS	HUVEC	blood vessel
17	chr7:11665400-11666200	Enhancers	Brain Hippocampus Middle	brain
18	chr7:11665600-11665800	Enhancers	Fetal Kidney	kidney

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dbSNP/dbVar ID: rs12345 /nsv7879
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