Variant report

Variant	rs2173441
Chromosome Location	chr12:63337217-63337218
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
ENSG00000252660	Chromatin interaction
ENSG00000111110	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10506468	0.84[GIH][hapmap]
rs11174723	0.95[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11174731	0.95[ASN][1000 genomes]
rs12301080	0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs12302398	0.95[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12302449	0.95[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12304611	0.96[ASN][1000 genomes]
rs12311870	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12314057	0.91[ASN][1000 genomes]
rs12315582	0.96[ASN][1000 genomes]
rs12316918	0.89[ASN][1000 genomes]
rs1250152	0.94[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1666909	0.97[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1681992	0.97[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1681993	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1681994	0.97[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1695023	0.97[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs17098649	0.96[ASN][1000 genomes]
rs1731665	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.85[MKK][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2442110	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2628036	0.96[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2628038	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs3858674	0.95[ASN][1000 genomes]
rs3858675	0.96[ASN][1000 genomes]
rs7314488	0.96[ASN][1000 genomes]
rs7314892	0.96[ASN][1000 genomes]
rs7315141	0.96[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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63329600-63338600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:63335400-63338600	Weak transcription	Brain Substantia Nigra	brain
3	chr12:63336200-63337400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:63336200-63337600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr12:63336800-63337400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr12:63336800-63338000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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