Variant report

Variant	rs1472314
Chromosome Location	chr12:66788838-66788839
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:66787772..66790243-chr12:66792913..66794848,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1472313	0.90[YRI][hapmap]
rs1495497	0.81[ASN][1000 genomes]
rs1495500	0.92[EUR][1000 genomes]
rs6581677	0.89[CHB][hapmap];0.83[CHD][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1051713	chr12:66745716-66889411	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv832447	chr12:66785814-66990029	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1472314	IRAK3	cis	parietal	SCAN
rs1472314	HELB	Cis_1M	lymphoblastoid	RTeQTL
rs1472314	HELB	cis	cerebellum	SCAN
rs1472314	HELB	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66710200-66792800	Weak transcription	Fetal Kidney	kidney
2	chr12:66738000-66792800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:66775200-66793000	Weak transcription	Esophagus	oesophagus
4	chr12:66780800-66792800	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:66781400-66792000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr12:66781600-66792800	Weak transcription	Adipose Nuclei	Adipose
7	chr12:66782200-66792800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:66782800-66812600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:66784200-66796000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:66786200-66792600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:66786200-66792600	Weak transcription	Brain Germinal Matrix	brain
12	chr12:66786200-66801000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:66786200-66801200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:66786400-66801200	Weak transcription	Placenta	Placenta
15	chr12:66786600-66791800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr12:66786600-66791800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr12:66786600-66803000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:66787200-66789000	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr12:66787400-66791600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:66787600-66791000	Weak transcription	Fetal Brain Male	brain
21	chr12:66788400-66789200	Enhancers	Primary T cells from cord blood	blood
22	chr12:66788600-66791800	Weak transcription	Fetal Brain Female	brain

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