Variant report

Variant	rs2464118
Chromosome Location	chr12:63351841-63351842
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:63326269..63329937-chr12:63348928..63353805,6	MCF-7	breast:
2	chr12:63351575..63353883-chr12:63354242..63355934,2	MCF-7	breast:
3	chr12:63351696..63354056-chr12:63357411..63360741,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252660	Chromatin interaction
ENSG00000111110	Chromatin interaction
ENSG00000139239	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1026096	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10506470	1.00[ASN][1000 genomes]
rs1249935	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12813083	1.00[ASN][1000 genomes]
rs12821413	1.00[ASN][1000 genomes]
rs12821849	1.00[ASN][1000 genomes]
rs12829134	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17098568	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17098575	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17098581	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17098689	1.00[ASN][1000 genomes]
rs17098761	1.00[ASN][1000 genomes]
rs17098763	1.00[ASN][1000 genomes]
rs17098774	1.00[ASN][1000 genomes]
rs17098779	1.00[ASN][1000 genomes]
rs17098789	1.00[ASN][1000 genomes]
rs17098794	1.00[ASN][1000 genomes]
rs1731661	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17739095	1.00[ASN][1000 genomes]
rs2840070	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2884542	1.00[ASN][1000 genomes]
rs34203667	1.00[ASN][1000 genomes]
rs35910451	1.00[ASN][1000 genomes]
rs67784802	1.00[ASN][1000 genomes]
rs67994077	1.00[ASN][1000 genomes]
rs699591	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs699593	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs699615	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs699618	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs71450600	1.00[ASN][1000 genomes]
rs71465172	1.00[ASN][1000 genomes]
rs71465180	1.00[ASN][1000 genomes]
rs71465181	1.00[ASN][1000 genomes]
rs771974	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs771976	1.00[ASN][1000 genomes]
rs772538	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs772541	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9971730	0.82[EUR][1000 genomes];1.00[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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63349600-63352000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr12:63349800-63353400	Enhancers	HepG2	liver
3	chr12:63350200-63352400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr12:63350400-63352000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr12:63350400-63352800	Weak transcription	Ovary	ovary
6	chr12:63350800-63352400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr12:63351000-63352000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:63351000-63352000	Enhancers	Fetal Intestine Small	intestine
9	chr12:63351200-63352000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:63351200-63352400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr12:63351200-63353000	Enhancers	Fetal Kidney	kidney
12	chr12:63351600-63352000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:63351600-63352000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr12:63351600-63352200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr12:63351600-63352400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr12:63351600-63353000	Enhancers	Fetal Intestine Large	intestine
17	chr12:63351800-63353000	Weak transcription	Stomach Mucosa	stomach

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