Variant report

Variant	rs11051409
Chromosome Location	chr12:31513560-31513561
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:31511390..31513661-chr12:31514408..31515998,2	K562	blood:
2	chr12:31512202..31513960-chr12:31515400..31517453,2	MCF-7	breast:
3	chr12:31455820..31458527-chr12:31512932..31515644,2	K562	blood:
4	chr12:31477240..31480202-chr12:31513504..31517911,10	MCF-7	breast:

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

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10843918	1.00[EUR][1000 genomes]
rs11051394	0.94[CHB][hapmap];1.00[EUR][1000 genomes]
rs11051395	1.00[EUR][1000 genomes]
rs11051396	1.00[EUR][1000 genomes]
rs11051399	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11051402	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11051403	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12226982	1.00[EUR][1000 genomes]
rs12228674	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12581740	1.00[EUR][1000 genomes]
rs17576073	1.00[EUR][1000 genomes]
rs17576094	1.00[EUR][1000 genomes]
rs17576143	1.00[EUR][1000 genomes]
rs17603906	1.00[EUR][1000 genomes]
rs2293039	1.00[EUR][1000 genomes]
rs2293040	1.00[EUR][1000 genomes]
rs3741872	1.00[EUR][1000 genomes]
rs3741873	1.00[EUR][1000 genomes]
rs3782688	1.00[EUR][1000 genomes]
rs57061710	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60022875	1.00[EUR][1000 genomes]
rs7301494	1.00[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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31480000-31522800	Weak transcription	Right Atrium	heart
2	chr12:31500200-31513600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:31500600-31515400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:31507400-31514800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:31507400-31514800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:31507400-31514800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:31507400-31515000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:31507400-31515000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:31507600-31514800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:31507800-31515000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:31508800-31515000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:31509000-31515000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:31509000-31515000	Weak transcription	Colonic Mucosa	Colon
14	chr12:31509200-31515000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr12:31509200-31515000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:31509400-31513600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr12:31509400-31514800	Weak transcription	HepG2	liver
18	chr12:31511000-31514800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr12:31512400-31513600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:31512400-31514800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:31512400-31514800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:31512400-31515000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:31513200-31513800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:31513200-31515200	Enhancers	HMEC	breast
25	chr12:31513400-31514200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr12:31513400-31514200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:31513400-31514200	Enhancers	NHEK	skin
28	chr12:31513400-31514400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:31513400-31515000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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