Variant report

Variant	rs4533047
Chromosome Location	chr11:119584347-119584348
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:119579836..119582330-chr11:119583549..119585842,2	MCF-7	breast:
2	chr11:119582343..119585155-chr11:119589653..119593219,3	MCF-7	breast:
3	chr11:119582567..119584889-chr11:119586809..119588418,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2523D13.1.1-6	chr11:119584309-119584635	ENSG00000255247.1

Variant related genes	Relation type
ENSG00000255247	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10790338	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10892440	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10892442	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11600071	0.92[EUR][1000 genomes]
rs12416901	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4245203	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4245204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4245205	1.00[CEU][hapmap];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];1.00[ASN][1000 genomes]
rs4409845	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs4533046	0.82[CHB][hapmap]
rs7104562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7104655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7122738	0.82[CHB][hapmap]
rs7925057	0.85[ASN][1000 genomes]
rs7927510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7931978	0.86[ASN][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	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
6	nsv1051769	chr11:119572865-119630769	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119568400-119587000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:119568600-119590400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:119572600-119592000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:119573000-119591800	Weak transcription	Left Ventricle	heart
5	chr11:119574000-119597200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:119575200-119591600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:119576800-119587200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:119578000-119584800	Weak transcription	Right Ventricle	heart
9	chr11:119579600-119589200	Genic enhancers	Fetal Intestine Small	intestine
10	chr11:119580800-119597000	Weak transcription	Lung	lung
11	chr11:119581000-119584400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr11:119581000-119584400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:119581000-119584400	Weak transcription	Small Intestine	intestine
14	chr11:119581000-119586400	Weak transcription	Ovary	ovary
15	chr11:119581000-119591600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:119581000-119591600	Weak transcription	Colonic Mucosa	Colon
17	chr11:119581200-119588400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr11:119581200-119590600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr11:119581400-119584400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:119581400-119585200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:119581400-119585800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr11:119581400-119586400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:119581400-119587000	Weak transcription	Brain Substantia Nigra	brain
24	chr11:119581600-119586800	Weak transcription	Brain Germinal Matrix	brain
25	chr11:119581800-119586400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:119582200-119585800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:119582200-119586200	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr11:119582200-119589000	Enhancers	Duodenum Mucosa	Duodenum
29	chr11:119582200-119593600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:119582400-119585400	Enhancers	Pancreas	Pancrea
31	chr11:119582400-119585800	Enhancers	Fetal Thymus	thymus
32	chr11:119582400-119586600	Enhancers	Liver	Liver
33	chr11:119582400-119587000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr11:119582400-119587800	Enhancers	Fetal Intestine Large	intestine
35	chr11:119582600-119585000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:119582600-119585200	Enhancers	Primary B cells from cord blood	blood
37	chr11:119582800-119586400	Weak transcription	Brain Angular Gyrus	brain
38	chr11:119582800-119587600	Weak transcription	Fetal Brain Female	brain
39	chr11:119582800-119589200	Enhancers	H1 Cell Line	embryonic stem cell
40	chr11:119583000-119584600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:119583000-119584800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:119583000-119586200	Enhancers	Fetal Muscle Leg	muscle
43	chr11:119583200-119584600	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr11:119583200-119584600	Enhancers	Placenta	Placenta
45	chr11:119583200-119584800	Flanking Active TSS	HepG2	liver
46	chr11:119583200-119585000	Enhancers	Thymus	Thymus
47	chr11:119583200-119585200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr11:119583200-119585400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:119583400-119584600	Enhancers	Primary hematopoietic stem cells	blood
50	chr11:119583400-119584800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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