Variant report

Variant	rs1995328
Chromosome Location	chr7:121838692-121838693
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10953952	0.86[EUR][1000 genomes]
rs11521039	0.89[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11761142	0.90[EUR][1000 genomes]
rs11762921	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11763733	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11765219	0.81[EUR][1000 genomes]
rs11766185	0.88[EUR][1000 genomes]
rs11772230	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1206207	0.85[EUR][1000 genomes]
rs12155126	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12374930	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs157653	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1604332	0.90[EUR][1000 genomes]
rs2019876	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2083860	0.90[EUR][1000 genomes]
rs2120364	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2120365	0.90[EUR][1000 genomes]
rs279662	0.85[EUR][1000 genomes]
rs279681	0.82[CEU][hapmap]
rs279687	0.82[EUR][1000 genomes]
rs279693	0.81[EUR][1000 genomes]
rs279698	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs55818404	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56318514	0.84[EUR][1000 genomes]
rs56331846	0.88[EUR][1000 genomes]
rs57562127	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs59536307	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60116323	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61366730	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62474297	0.90[EUR][1000 genomes]
rs62474298	0.89[EUR][1000 genomes]
rs62474306	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62474307	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6959778	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7802078	0.84[AMR][1000 genomes];0.90[EUR][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	nsv427803	chr7:121701581-121876302	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1034624	chr7:121813180-121899703	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1034797	chr7:121815255-121897109	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1028221	chr7:121818974-121899162	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1024868	chr7:121818974-121899703	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121834800-121839400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr7:121838200-121838800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:121838200-121838800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr7:121838600-121839400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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