Variant report

Variant	rs7511844
Chromosome Location	chr1:102386005-102386006
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:102310233..102312368-chr1:102385841..102387762,2	MCF-7	breast:

Extended variants
information (count: 66 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1008809	0.86[MEX][hapmap];0.83[AMR][1000 genomes]
rs1008810	0.83[AMR][1000 genomes]
rs10493968	0.83[AMR][1000 genomes]
rs10493969	0.81[AMR][1000 genomes]
rs10782858	0.82[AMR][1000 genomes]
rs10782860	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10874527	0.83[AMR][1000 genomes]
rs11164329	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11164332	0.83[AMR][1000 genomes]
rs11164334	0.83[AMR][1000 genomes]
rs11164335	0.83[AMR][1000 genomes]
rs12060073	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12061071	0.83[AMR][1000 genomes]
rs12130645	0.83[CEU][hapmap]
rs12564023	0.96[ASN][1000 genomes]
rs12730585	0.85[ASN][1000 genomes]
rs1336800	0.83[AMR][1000 genomes]
rs1360997	0.96[ASN][1000 genomes]
rs1360998	0.84[AMR][1000 genomes]
rs1360999	0.82[AMR][1000 genomes]
rs1415106	0.96[ASN][1000 genomes]
rs17125667	0.87[JPT][hapmap]
rs17125689	0.96[ASN][1000 genomes]
rs17125705	0.96[ASN][1000 genomes]
rs17125729	0.96[ASN][1000 genomes]
rs1891123	0.83[AMR][1000 genomes]
rs1891125	0.83[AMR][1000 genomes]
rs1981274	0.83[AMR][1000 genomes]
rs1981275	0.83[AMR][1000 genomes]
rs1998978	0.82[AMR][1000 genomes]
rs2000149	0.86[MEX][hapmap];0.83[AMR][1000 genomes]
rs2000150	0.86[MEX][hapmap];0.83[AMR][1000 genomes]
rs2000151	0.83[AMR][1000 genomes]
rs2339119	0.85[AMR][1000 genomes]
rs2879349	0.83[AMR][1000 genomes]
rs4908198	0.85[MEX][hapmap];0.83[AMR][1000 genomes]
rs4908199	0.85[AMR][1000 genomes]
rs4908200	0.83[AMR][1000 genomes]
rs4908201	0.83[AMR][1000 genomes]
rs6577281	0.83[AMR][1000 genomes]
rs6577283	0.85[AMR][1000 genomes]
rs6577285	0.82[AMR][1000 genomes]
rs6577286	0.83[AMR][1000 genomes]
rs6662872	0.85[AMR][1000 genomes]
rs6668325	0.83[AMR][1000 genomes]
rs6697587	0.83[AMR][1000 genomes]
rs74107128	0.96[ASN][1000 genomes]
rs7512170	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7521861	0.85[AMR][1000 genomes]
rs7523948	0.83[AMR][1000 genomes]
rs7524443	0.83[AMR][1000 genomes]
rs7526689	0.83[AMR][1000 genomes]
rs7531673	0.86[MEX][hapmap];0.83[AMR][1000 genomes]
rs7534442	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7543735	0.83[AMR][1000 genomes]
rs943556	0.83[AMR][1000 genomes]
rs943557	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522921	chr1:102170295-102876392	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv522156	chr1:102309649-102421714	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1004240	chr1:102360610-102428344	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1012856	chr1:102360610-102438432	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv520768	chr1:102366140-102435130	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv2756852	chr1:102372339-102417093	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv2758953	chr1:102372339-102417093	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv462628	chr1:102376258-102473559	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv546900	chr1:102376258-102473559	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7511844	AMY2B	cis	cerebellum	SCAN
rs7511844	OLFM3	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:102385800-102386600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:102386000-102386400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:102386000-102386600	Enhancers	HUES64 Cell Line	embryonic stem cell

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