Variant report

Variant	rs2218471
Chromosome Location	chr13:110777939-110777940
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:110760613..110762563-chr13:110777021..110779083,2	MCF-7	breast:
2	chr13:110769994..110772224-chr13:110776399..110779306,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11069825	1.00[ASN][1000 genomes]
rs12869698	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4238271	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56314927	0.85[ASN][1000 genomes]
rs7318126	1.00[ASN][1000 genomes]
rs7988768	0.92[ASN][1000 genomes]
rs9521601	0.96[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	nsv901006	chr13:110748857-110806490	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv563099	chr13:110749252-110778894	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv456115	chr13:110756664-110806490	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv563100	chr13:110756664-110806490	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1052147	chr13:110765635-110917782	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 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	chr13:110769400-110778000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr13:110772200-110778000	Enhancers	Fetal Heart	heart
3	chr13:110772600-110781800	Enhancers	HMEC	breast
4	chr13:110774200-110778000	Weak transcription	A549	lung
5	chr13:110774600-110780200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr13:110775000-110781400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr13:110775400-110778400	Enhancers	HUVEC	blood vessel
8	chr13:110775600-110778000	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr13:110775600-110778000	Weak transcription	HSMM	muscle
10	chr13:110775800-110778800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:110775800-110778800	Enhancers	Brain Hippocampus Middle	brain
12	chr13:110776000-110778000	Weak transcription	Esophagus	oesophagus
13	chr13:110776000-110778400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr13:110776000-110778800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr13:110776200-110778000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr13:110776200-110778000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr13:110776200-110778200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:110776200-110778200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr13:110776200-110778200	Weak transcription	Psoas Muscle	Psoas
20	chr13:110776200-110778400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr13:110776200-110778400	Weak transcription	Aorta	Aorta
22	chr13:110776200-110780600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr13:110776400-110778000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr13:110776400-110778000	Weak transcription	NHEK	skin
25	chr13:110776400-110778200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:110776400-110778200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr13:110776400-110778200	Enhancers	NH-A	brain
28	chr13:110776400-110778800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr13:110776600-110778200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr13:110776600-110778600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr13:110776600-110780000	Enhancers	Spleen	Spleen
32	chr13:110776800-110778400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr13:110776800-110778600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr13:110777000-110780200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr13:110777200-110778000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr13:110777200-110778000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr13:110777200-110779000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr13:110777200-110779000	Weak transcription	Brain Anterior Caudate	brain
39	chr13:110777400-110778800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr13:110777400-110779000	Enhancers	Adipose Nuclei	Adipose
41	chr13:110777600-110778800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr13:110777600-110778800	Enhancers	Right Ventricle	heart
43	chr13:110777600-110779000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr13:110777600-110779200	Enhancers	Fetal Thymus	thymus
45	chr13:110777600-110779200	Enhancers	Lung	lung
46	chr13:110777600-110780600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr13:110777600-110780600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr13:110777800-110778400	Enhancers	Osteobl	bone
49	chr13:110777800-110778600	Enhancers	HSMMtube	muscle
50	chr13:110777800-110778800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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