Variant report

Variant	rs6563730
Chromosome Location	chr13:40171718-40171719
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17060035	1.00[EUR][1000 genomes]
rs57364973	1.00[EUR][1000 genomes]
rs58568755	1.00[EUR][1000 genomes]
rs58584213	1.00[EUR][1000 genomes]
rs59893299	1.00[EUR][1000 genomes]
rs60448326	1.00[EUR][1000 genomes]
rs60950256	1.00[EUR][1000 genomes]
rs7139911	1.00[EUR][1000 genomes]
rs7319092	1.00[EUR][1000 genomes]
rs7982709	1.00[EUR][1000 genomes]
rs7997300	1.00[EUR][1000 genomes]
rs9741239	1.00[EUR][1000 genomes]
rs9741636	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 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	chr13:40146000-40171800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:40150000-40172600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr13:40150600-40171800	Weak transcription	HSMM	muscle
4	chr13:40153000-40171800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr13:40153200-40171800	Weak transcription	HMEC	breast
6	chr13:40153600-40171800	Weak transcription	Aorta	Aorta
7	chr13:40155600-40175800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:40157000-40172000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:40161200-40175000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr13:40161600-40172000	Weak transcription	NHEK	skin
11	chr13:40162400-40175000	Weak transcription	Lung	lung
12	chr13:40162400-40175000	Weak transcription	Spleen	Spleen
13	chr13:40163000-40171800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr13:40163400-40175000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr13:40165200-40172000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr13:40165800-40171800	Weak transcription	Colon Smooth Muscle	Colon
17	chr13:40166000-40171800	Weak transcription	Right Atrium	heart
18	chr13:40166400-40173600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr13:40166400-40175000	Weak transcription	Gastric	stomach
20	chr13:40167400-40171800	Weak transcription	HSMMtube	muscle
21	chr13:40167600-40175800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr13:40170000-40173200	Weak transcription	Fetal Stomach	stomach
23	chr13:40170000-40173600	Weak transcription	Left Ventricle	heart
24	chr13:40170000-40175000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr13:40170000-40175000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr13:40170200-40171800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr13:40170200-40172200	Enhancers	Fetal Muscle Leg	muscle
28	chr13:40170400-40171800	Enhancers	Fetal Lung	lung
29	chr13:40170400-40172200	Enhancers	Brain Cingulate Gyrus	brain
30	chr13:40170600-40171800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr13:40170600-40171800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr13:40170600-40171800	Enhancers	Fetal Heart	heart
33	chr13:40170600-40171800	Enhancers	NHDF-Ad	bronchial
34	chr13:40170600-40172200	Enhancers	Brain Anterior Caudate	brain
35	chr13:40170600-40172400	Enhancers	NHLF	lung
36	chr13:40170600-40172800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr13:40170600-40173200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr13:40170800-40171800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr13:40170800-40172200	Active TSS	Fetal Brain Female	brain
40	chr13:40170800-40173200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr13:40170800-40173600	Enhancers	Osteobl	bone
42	chr13:40171000-40171800	Enhancers	Ovary	ovary
43	chr13:40171000-40172200	Enhancers	Brain Substantia Nigra	brain
44	chr13:40171000-40172200	Enhancers	Right Ventricle	heart
45	chr13:40171000-40172200	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr13:40171200-40171800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr13:40171200-40171800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr13:40171200-40174000	Weak transcription	Psoas Muscle	Psoas
49	chr13:40171400-40171800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr13:40171400-40171800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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