Variant report

Variant	rs4533046
Chromosome Location	chr11:119570613-119570614
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:119546001..119548946-chr11:119570439..119572387,2	MCF-7	breast:
2	chr11:119568589..119571498-chr11:119574354..119576763,2	MCF-7	breast:
3	chr11:119563899..119565883-chr11:119570340..119572500,2	MCF-7	breast:
4	chr11:119561359..119563599-chr11:119570255..119571810,2	K562	blood:
5	chr11:119554561..119556794-chr11:119570560..119572885,2	MCF-7	breast:
6	chr11:119568098..119571267-chr11:119595317..119602165,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110400	Chromatin interaction
ENSG00000254854	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11217417	1.00[AMR][1000 genomes]
rs11217424	1.00[AMR][1000 genomes]
rs11217425	1.00[AMR][1000 genomes]
rs12295549	1.00[AMR][1000 genomes]
rs4533047	0.82[CHB][hapmap]
rs4938714	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4938715	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57009202	1.00[EUR][1000 genomes]
rs6589768	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7122738	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[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	nsv898421	chr11:119499014-119631325	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv898422	chr11:119518006-119601779	Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv898423	chr11:119541332-119659753	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv468880	chr11:119564496-119588062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv556471	chr11:119564496-119588062	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119556000-119571600	Weak transcription	NHLF	lung
2	chr11:119561000-119580600	Weak transcription	Fetal Kidney	kidney
3	chr11:119561800-119577600	Enhancers	Brain Hippocampus Middle	brain
4	chr11:119562000-119578400	Enhancers	Duodenum Mucosa	Duodenum
5	chr11:119562400-119571000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:119562400-119571000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr11:119563200-119578400	Genic enhancers	Fetal Intestine Small	intestine
8	chr11:119563600-119574000	Enhancers	Placenta	Placenta
9	chr11:119564200-119578400	Enhancers	Fetal Intestine Large	intestine
10	chr11:119564800-119571800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr11:119565200-119582600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:119565400-119571400	Weak transcription	NH-A	brain
13	chr11:119565400-119571600	Weak transcription	Primary B cells from cord blood	blood
14	chr11:119565800-119572400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr11:119567000-119572400	Enhancers	Stomach Mucosa	stomach
16	chr11:119567200-119571800	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr11:119567200-119573200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr11:119567200-119573600	Enhancers	Small Intestine	intestine
19	chr11:119567400-119573400	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr11:119567400-119574400	Enhancers	Fetal Muscle Leg	muscle
21	chr11:119567400-119575000	Enhancers	Fetal Muscle Trunk	muscle
22	chr11:119567400-119576600	Weak transcription	Fetal Heart	heart
23	chr11:119567400-119579000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr11:119567600-119572600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:119567800-119572600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:119567800-119572600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:119568000-119580600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:119568200-119573600	Enhancers	Adipose Nuclei	Adipose
29	chr11:119568400-119571200	Enhancers	Lung	lung
30	chr11:119568400-119571600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:119568400-119571600	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr11:119568400-119573800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr11:119568400-119575600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr11:119568400-119580600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr11:119568400-119587000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr11:119568600-119572800	Enhancers	Right Ventricle	heart
37	chr11:119568600-119574200	Enhancers	Esophagus	oesophagus
38	chr11:119568600-119574600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:119568600-119580600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr11:119568600-119580600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr11:119568600-119590400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr11:119568800-119572000	Enhancers	Left Ventricle	heart
43	chr11:119568800-119574200	Enhancers	HMEC	breast
44	chr11:119568800-119576800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr11:119569000-119571600	Enhancers	Brain Substantia Nigra	brain
46	chr11:119569200-119571000	Enhancers	Right Atrium	heart
47	chr11:119569200-119571800	Enhancers	Colonic Mucosa	Colon
48	chr11:119569200-119573600	Genic enhancers	NHEK	skin
49	chr11:119569400-119570800	Enhancers	Brain Germinal Matrix	brain
50	chr11:119569400-119571000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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