Variant report

Variant	rs73573188
Chromosome Location	chr11:119534066-119534067
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:119533700..119535949-chr19:35605499..35607605,2	MCF-7	breast:
2	chr11:119533436..119537247-chr11:119598827..119601563,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254854	Chromatin interaction
ENSG00000110400	Chromatin interaction
ENSG00000089356	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10892428	0.90[AMR][1000 genomes]
rs11217379	0.81[AMR][1000 genomes]
rs11217385	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11603655	1.00[AMR][1000 genomes]
rs11603754	0.89[AMR][1000 genomes]
rs11605701	0.89[AMR][1000 genomes]
rs4938702	0.89[AMR][1000 genomes]
rs60008550	0.90[AMR][1000 genomes]
rs7130996	0.89[AMR][1000 genomes]
rs73571279	0.89[AMR][1000 genomes]
rs73571285	0.89[AMR][1000 genomes]
rs73571286	0.89[AMR][1000 genomes]
rs73571287	0.89[AMR][1000 genomes]
rs73573171	0.89[AMR][1000 genomes]
rs7943014	0.89[AMR][1000 genomes]
rs7944707	1.00[AMR][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	nsv1042460	chr11:119430954-119540452	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer 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	9 gene(s)	inside rSNPs	diseases
2	nsv898420	chr11:119488646-119541332	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	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
4	nsv984471	chr11:119505802-119568473	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119523200-119534200	Weak transcription	Spleen	Spleen
2	chr11:119523200-119541800	Weak transcription	Left Ventricle	heart
3	chr11:119523600-119536200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:119528600-119534200	Weak transcription	NHEK	skin
5	chr11:119528600-119534600	Enhancers	Fetal Muscle Leg	muscle
6	chr11:119528800-119534400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr11:119528800-119534600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:119529400-119534400	Weak transcription	Fetal Intestine Large	intestine
9	chr11:119529600-119535800	Weak transcription	HMEC	breast
10	chr11:119529800-119536200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr11:119530000-119534200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:119530200-119546000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:119530400-119541600	Weak transcription	Small Intestine	intestine
14	chr11:119530600-119536800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr11:119530800-119534200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:119531000-119534200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:119531000-119534600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr11:119531000-119534600	Weak transcription	Ovary	ovary
19	chr11:119531000-119536200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr11:119531000-119542000	Weak transcription	Colonic Mucosa	Colon
21	chr11:119531200-119534200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:119531200-119541800	Weak transcription	Fetal Heart	heart
23	chr11:119531400-119534400	Weak transcription	Fetal Brain Female	brain
24	chr11:119531400-119536200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:119531600-119536200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:119531800-119534600	Weak transcription	Right Ventricle	heart
27	chr11:119531800-119536600	Strong transcription	Esophagus	oesophagus
28	chr11:119531800-119539800	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr11:119532000-119536200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:119532200-119534200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:119532200-119534200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr11:119532200-119534200	Strong transcription	Fetal Stomach	stomach
33	chr11:119532400-119535200	Enhancers	Brain Cingulate Gyrus	brain
34	chr11:119532400-119541200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr11:119532400-119544400	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr11:119532800-119535200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:119532800-119541800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:119533000-119535000	Strong transcription	Placenta	Placenta
39	chr11:119533000-119535200	Enhancers	Brain Substantia Nigra	brain
40	chr11:119533000-119535400	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr11:119533000-119542000	Weak transcription	Right Atrium	heart
42	chr11:119533000-119543400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:119533200-119535200	Enhancers	Brain Hippocampus Middle	brain
44	chr11:119533200-119535400	Enhancers	Brain Angular Gyrus	brain
45	chr11:119533200-119535600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:119533200-119537600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:119533600-119534200	Weak transcription	Brain Germinal Matrix	brain
48	chr11:119533600-119534600	Enhancers	HepG2	liver
49	chr11:119533800-119535200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:119533800-119535200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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