Variant report

Variant	rs12304611
Chromosome Location	chr12:63336568-63336569
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	chr12:63328186..63331281-chr12:63335640..63338582,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111110	Chromatin interaction
ENSG00000252660	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10506468	0.96[EUR][1000 genomes]
rs11174723	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11174731	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12301080	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12302398	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12302449	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12311870	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12314057	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12315582	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12316918	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1250152	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1666909	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1681992	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1681993	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1681994	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1695023	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17098649	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1731665	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2019497	0.83[EUR][1000 genomes]
rs2173441	0.96[ASN][1000 genomes]
rs2442110	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2628036	0.96[ASN][1000 genomes]
rs2628038	0.96[ASN][1000 genomes]
rs3858674	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3858675	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58389317	0.96[EUR][1000 genomes]
rs58869921	0.96[EUR][1000 genomes]
rs699587	0.96[EUR][1000 genomes]
rs7314488	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7314892	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7315141	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3415227	chr12:63228121-63591615	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63329600-63338600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:63335200-63336800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr12:63335400-63336800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:63335400-63337000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:63335400-63338600	Weak transcription	Brain Substantia Nigra	brain
6	chr12:63336000-63336800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:63336200-63337000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr12:63336200-63337400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:63336200-63337600	Enhancers	HUES64 Cell Line	embryonic stem cell

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