Variant report

Variant	rs9583462
Chromosome Location	chr13:110777035-110777036
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	chr13:110760613..110762563-chr13:110777021..110779083,2	MCF-7	breast:
2	chr13:110769994..110772224-chr13:110776399..110779306,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL4A2-5	chr13:110775555-110777581	NONHSAT035138

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11841329	1.00[EUR][1000 genomes]
rs16975290	1.00[EUR][1000 genomes]
rs521699	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs56294719	1.00[EUR][1000 genomes]
rs57652802	1.00[EUR][1000 genomes]
rs58702949	1.00[EUR][1000 genomes]
rs58824458	1.00[EUR][1000 genomes]
rs60015252	1.00[EUR][1000 genomes]
rs60279490	1.00[EUR][1000 genomes]
rs61661904	1.00[EUR][1000 genomes]
rs626680	1.00[EUR][1000 genomes]
rs645511	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs666338	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7319834	1.00[EUR][1000 genomes]
rs7320392	1.00[EUR][1000 genomes]
rs7326006	1.00[EUR][1000 genomes]
rs7332823	1.00[EUR][1000 genomes]
rs7333839	1.00[EUR][1000 genomes]
rs7333840	1.00[EUR][1000 genomes]
rs7337040	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs73611449	1.00[EUR][1000 genomes]
rs73624503	1.00[EUR][1000 genomes]
rs73624510	1.00[EUR][1000 genomes]
rs73624516	1.00[EUR][1000 genomes]
rs73624520	1.00[EUR][1000 genomes]
rs73624531	1.00[EUR][1000 genomes]
rs7982267	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7983033	1.00[EUR][1000 genomes]
rs7984919	1.00[EUR][1000 genomes]
rs7992629	1.00[EUR][1000 genomes]
rs7992797	1.00[EUR][1000 genomes]
rs8000352	1.00[EUR][1000 genomes]
rs9301428	1.00[EUR][1000 genomes]
rs9301430	1.00[EUR][1000 genomes]
rs9583454	1.00[EUR][1000 genomes]
rs9583455	1.00[EUR][1000 genomes]
rs9583456	1.00[EUR][1000 genomes]
rs9583457	1.00[EUR][1000 genomes]
rs9588062	1.00[EUR][1000 genomes]
rs9588085	1.00[EUR][1000 genomes]
rs9588086	1.00[EUR][1000 genomes]
rs9588087	1.00[EUR][1000 genomes]
rs9588099	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9588106	1.00[EUR][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:52 , 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	chr13:110772800-110777800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr13:110773200-110777800	Weak transcription	Right Atrium	heart
6	chr13:110773400-110777600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr13:110773400-110777600	Weak transcription	Right Ventricle	heart
8	chr13:110774200-110778000	Weak transcription	A549	lung
9	chr13:110774600-110780200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr13:110775000-110781400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr13:110775400-110778400	Enhancers	HUVEC	blood vessel
12	chr13:110775600-110777800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr13:110775600-110778000	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr13:110775600-110778000	Weak transcription	HSMM	muscle
15	chr13:110775800-110778800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:110775800-110778800	Enhancers	Brain Hippocampus Middle	brain
17	chr13:110776000-110777800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr13:110776000-110778000	Weak transcription	Esophagus	oesophagus
19	chr13:110776000-110778400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr13:110776000-110778800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr13:110776200-110777400	Enhancers	Osteobl	bone
22	chr13:110776200-110777800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr13:110776200-110777800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr13:110776200-110777800	Weak transcription	Left Ventricle	heart
25	chr13:110776200-110777800	Weak transcription	HSMMtube	muscle
26	chr13:110776200-110778000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr13:110776200-110778000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr13:110776200-110778200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr13:110776200-110778200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr13:110776200-110778200	Weak transcription	Psoas Muscle	Psoas
31	chr13:110776200-110778400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr13:110776200-110778400	Weak transcription	Aorta	Aorta
33	chr13:110776200-110780600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr13:110776400-110777200	Enhancers	Brain Anterior Caudate	brain
35	chr13:110776400-110777600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr13:110776400-110777600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr13:110776400-110777800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr13:110776400-110778000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr13:110776400-110778000	Weak transcription	NHEK	skin
40	chr13:110776400-110778200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr13:110776400-110778200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr13:110776400-110778200	Enhancers	NH-A	brain
43	chr13:110776400-110778800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr13:110776600-110777200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr13:110776600-110778200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr13:110776600-110778600	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr13:110776600-110780000	Enhancers	Spleen	Spleen
48	chr13:110776800-110777800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr13:110776800-110778400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr13:110776800-110778600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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