Variant report

Variant	rs58910650
Chromosome Location	chr13:110950116-110950117
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:110948351..110950288-chr13:110954842..110957509,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2029767	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4771662	0.90[AMR][1000 genomes]
rs55997809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73617472	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs903355	1.00[AMR][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	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110920200-110951200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr13:110928600-110951000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:110936200-110951000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr13:110936200-110958800	Weak transcription	Gastric	stomach
5	chr13:110937000-110955400	Weak transcription	A549	lung
6	chr13:110937400-110951000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr13:110937400-110952000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:110937800-110950600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr13:110938000-110951200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr13:110939600-110951000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr13:110939600-110951400	Weak transcription	Fetal Intestine Large	intestine
12	chr13:110939800-110950800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr13:110940400-110951200	Weak transcription	HSMMtube	muscle
14	chr13:110940400-110953600	Weak transcription	NHEK	skin
15	chr13:110941000-110951000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr13:110942400-110951200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr13:110943400-110951000	Weak transcription	Colonic Mucosa	Colon
18	chr13:110943600-110951000	Weak transcription	Esophagus	oesophagus
19	chr13:110943800-110951000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr13:110945600-110955600	Weak transcription	Pancreas	Pancrea
21	chr13:110946600-110951000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr13:110946800-110950600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr13:110946800-110950800	Weak transcription	NHLF	lung
24	chr13:110946800-110951000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr13:110946800-110951000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr13:110946800-110951000	Weak transcription	Spleen	Spleen
27	chr13:110946800-110951200	Weak transcription	Aorta	Aorta
28	chr13:110947400-110952600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr13:110947600-110950600	Weak transcription	NHDF-Ad	bronchial
30	chr13:110948200-110951000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr13:110948200-110951600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr13:110948200-110952600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr13:110948200-110954200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr13:110948400-110950400	Strong transcription	HSMM	muscle
35	chr13:110948600-110950800	Weak transcription	Left Ventricle	heart
36	chr13:110948600-110951000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr13:110948600-110954200	Genic enhancers	NH-A	brain
38	chr13:110949000-110950600	Enhancers	HUVEC	blood vessel
39	chr13:110949000-110950800	Weak transcription	Placenta	Placenta
40	chr13:110949000-110950800	Enhancers	Rectal Smooth Muscle	rectum
41	chr13:110949000-110951400	Enhancers	Fetal Kidney	kidney
42	chr13:110949000-110952800	Strong transcription	Osteobl	bone
43	chr13:110949200-110951000	Enhancers	Fetal Lung	lung
44	chr13:110949400-110950200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr13:110949400-110950600	Weak transcription	Colon Smooth Muscle	Colon
46	chr13:110949400-110951000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr13:110949400-110954600	Enhancers	Fetal Heart	heart
48	chr13:110949400-110956800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr13:110949600-110950200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr13:110949600-110950400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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