Variant report

Variant	rs11051410
Chromosome Location	chr12:31513718-31513719
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:31512202..31513960-chr12:31515400..31517453,2	MCF-7	breast:
2	chr12:31455820..31458527-chr12:31512932..31515644,2	K562	blood:
3	chr12:31477240..31480202-chr12:31513504..31517911,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238661	Chromatin interaction
ENSG00000139146	Chromatin interaction
ENSG00000177340	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11051405	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12231104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2090772	1.00[CEU][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2090773	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6487987	0.89[EUR][1000 genomes]
rs7959964	0.88[EUR][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	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2751054	chr12:31225710-31513718	Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv430477	chr12:31239600-31513718	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv832364	chr12:31467990-31648144	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31480000-31522800	Weak transcription	Right Atrium	heart
2	chr12:31500600-31515400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:31507400-31514800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:31507400-31514800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:31507400-31514800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr12:31507400-31515000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:31507400-31515000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:31507600-31514800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:31507800-31515000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:31508800-31515000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:31509000-31515000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:31509000-31515000	Weak transcription	Colonic Mucosa	Colon
13	chr12:31509200-31515000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr12:31509200-31515000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr12:31509400-31514800	Weak transcription	HepG2	liver
16	chr12:31511000-31514800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr12:31512400-31514800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:31512400-31514800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:31512400-31515000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:31513200-31513800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:31513200-31515200	Enhancers	HMEC	breast
22	chr12:31513400-31514200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr12:31513400-31514200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:31513400-31514200	Enhancers	NHEK	skin
25	chr12:31513400-31514400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:31513400-31515000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:31513600-31513800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr12:31513600-31513800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr12:31513600-31513800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:31513600-31513800	Enhancers	H9 Cell Line	embryonic stem cell
31	chr12:31513600-31513800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:31513600-31513800	Enhancers	Esophagus	oesophagus
33	chr12:31513600-31513800	Enhancers	Placenta	Placenta
34	chr12:31513600-31513800	Enhancers	Fetal Thymus	thymus
35	chr12:31513600-31513800	Enhancers	Gastric	stomach
36	chr12:31513600-31513800	Bivalent Enhancer	Lung	lung
37	chr12:31513600-31513800	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr12:31513600-31513800	Enhancers	Sigmoid Colon	Sigmoid Colon

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