Variant report

Variant	rs2043800
Chromosome Location	chr12:67616583-67616584
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:67555204..67555730-chr12:67616100..67616649,2	MCF-7	breast:
2	chr12:67418734..67420386-chr12:67615976..67617354,5	MCF-7	breast:
3	chr12:67610123..67612241-chr12:67614885..67617280,3	K562	blood:
4	chr12:67297515..67298406-chr12:67615824..67616730,3	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10735940	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10748069	0.85[CHB][hapmap];0.86[CHD][hapmap]
rs10748071	0.85[CHB][hapmap];0.86[CHD][hapmap]
rs10748074	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10784611	0.85[CHB][hapmap]
rs10784614	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10878569	0.85[CHB][hapmap];0.86[CHD][hapmap]
rs10878576	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10878577	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10878578	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10878579	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10878580	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10878581	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10878585	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11176589	0.85[CHB][hapmap]
rs11176591	0.85[CHB][hapmap];0.86[CHD][hapmap]
rs11176597	0.85[CHB][hapmap]
rs11176627	1.00[ASN][1000 genomes]
rs11176629	1.00[ASN][1000 genomes]
rs11176633	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12146816	0.87[ASN][1000 genomes]
rs1370405	0.97[ASN][1000 genomes]
rs1370406	1.00[ASN][1000 genomes]
rs1569021	0.82[CHB][hapmap]
rs1595334	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1595337	1.00[ASN][1000 genomes]
rs1657978	1.00[ASN][1000 genomes]
rs1657983	1.00[ASN][1000 genomes]
rs1866068	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1866255	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1866256	0.90[ASN][1000 genomes]
rs1898454	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1898610	1.00[ASN][1000 genomes]
rs1898611	1.00[ASN][1000 genomes]
rs1918140	0.85[CHB][hapmap]
rs2033728	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2164746	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2870942	1.00[ASN][1000 genomes]
rs2917847	1.00[ASN][1000 genomes]
rs2917849	1.00[ASN][1000 genomes]
rs4244072	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4397936	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4603385	0.85[CHB][hapmap];0.85[CHD][hapmap]
rs4913532	1.00[ASN][1000 genomes]
rs4913533	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7135360	0.85[CHB][hapmap]
rs775313	1.00[ASN][1000 genomes]
rs7968916	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7969451	0.85[CHB][hapmap];0.86[CHD][hapmap]

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	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1042328	chr12:67573942-67617106	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv899218	chr12:67612129-67643840	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2043800	GRIP1	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67616200-67616600	Enhancers	Stomach Smooth Muscle	stomach
2	chr12:67616200-67617200	Enhancers	H1 Cell Line	embryonic stem cell

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