Variant report

Variant	rs12302030
Chromosome Location	chr12:75942529-75942530
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	chr12:75942170..75945016-chr12:75945671..75947951,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10082902	0.87[YRI][hapmap];0.82[AFR][1000 genomes]
rs11180571	0.84[YRI][hapmap];0.82[AFR][1000 genomes]
rs11180572	0.82[AFR][1000 genomes]
rs11180578	0.83[AFR][1000 genomes]
rs12299712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12300622	0.85[AMR][1000 genomes]
rs12312606	0.82[AFR][1000 genomes]
rs12313780	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12313910	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12313959	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12314133	0.85[AMR][1000 genomes]
rs12315633	0.82[AFR][1000 genomes]
rs12318161	0.82[AFR][1000 genomes]
rs3741496	0.85[YRI][hapmap]
rs60131646	0.83[AFR][1000 genomes]
rs61156377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7299877	0.86[YRI][hapmap]
rs73360003	0.85[AMR][1000 genomes]
rs73360006	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73361929	0.82[AFR][1000 genomes]
rs73361938	0.82[AFR][1000 genomes]
rs73361945	0.83[AFR][1000 genomes]
rs73361948	0.82[AFR][1000 genomes]
rs73378325	0.82[AFR][1000 genomes]
rs73378350	0.83[AFR][1000 genomes]
rs7962381	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv899313	chr12:75715330-76057811	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv470305	chr12:75896688-75987360	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75938600-75943600	Weak transcription	HUVEC	blood vessel
2	chr12:75938600-75947200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:75939800-75944200	Weak transcription	Brain Germinal Matrix	brain
4	chr12:75939800-75944200	Weak transcription	A549	lung
5	chr12:75940200-75943400	Weak transcription	HSMMtube	muscle
6	chr12:75940200-75943800	Weak transcription	HSMM	muscle
7	chr12:75940200-75944800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr12:75940400-75943200	Weak transcription	Fetal Lung	lung
9	chr12:75941600-75943000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr12:75942000-75943400	Weak transcription	Fetal Heart	heart
11	chr12:75942200-75942600	Weak transcription	Fetal Brain Male	brain
12	chr12:75942200-75942800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr12:75942400-75942800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:75942400-75943000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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