Variant report

Variant	rs60232894
Chromosome Location	chr13:110941530-110941531
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1018041	0.81[ASN][1000 genomes]
rs1018042	0.81[ASN][1000 genomes]
rs12865767	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12870961	0.89[AFR][1000 genomes]
rs12874003	0.82[AMR][1000 genomes]
rs1411040	0.81[ASN][1000 genomes]
rs2391823	0.81[ASN][1000 genomes]
rs34173149	0.81[ASN][1000 genomes]
rs34633933	0.81[ASN][1000 genomes]
rs34841474	0.81[ASN][1000 genomes]
rs34906261	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35402290	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35513412	0.81[ASN][1000 genomes]
rs57541979	0.88[ASN][1000 genomes]
rs57931605	0.88[ASN][1000 genomes]
rs58715265	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58775672	1.00[ASN][1000 genomes]
rs58889764	1.00[ASN][1000 genomes]
rs59245704	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59516573	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60185726	0.89[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs71440056	0.94[ASN][1000 genomes]
rs72655725	0.86[AFR][1000 genomes]
rs7983906	0.86[EUR][1000 genomes]
rs953386	0.81[ASN][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:63 , 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	chr13:110925400-110949000	Weak transcription	Fetal Kidney	kidney
3	chr13:110928600-110951000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:110934400-110945400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:110936200-110951000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr13:110936200-110958800	Weak transcription	Gastric	stomach
7	chr13:110937000-110943200	Weak transcription	Colonic Mucosa	Colon
8	chr13:110937000-110955400	Weak transcription	A549	lung
9	chr13:110937400-110951000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr13:110937400-110952000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr13:110937800-110946000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:110937800-110947600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr13:110937800-110950600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr13:110938000-110951200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr13:110938400-110947000	Strong transcription	Osteobl	bone
16	chr13:110939200-110949400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr13:110939600-110941600	Weak transcription	Aorta	Aorta
18	chr13:110939600-110943000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr13:110939600-110944400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:110939600-110946400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr13:110939600-110951000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr13:110939600-110951400	Weak transcription	Fetal Intestine Large	intestine
23	chr13:110939800-110950800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr13:110940000-110946800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr13:110940200-110941600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr13:110940200-110941600	Weak transcription	Colon Smooth Muscle	Colon
27	chr13:110940200-110941600	Weak transcription	Lung	lung
28	chr13:110940200-110941800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr13:110940200-110941800	Weak transcription	NH-A	brain
30	chr13:110940200-110942400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr13:110940200-110943200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr13:110940200-110944600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr13:110940200-110946200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr13:110940200-110946200	Weak transcription	NHLF	lung
35	chr13:110940200-110948400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr13:110940200-110949200	Weak transcription	Psoas Muscle	Psoas
37	chr13:110940400-110941600	Weak transcription	Fetal Heart	heart
38	chr13:110940400-110941800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr13:110940400-110943000	Weak transcription	Small Intestine	intestine
40	chr13:110940400-110943200	Weak transcription	Right Atrium	heart
41	chr13:110940400-110943200	Weak transcription	Right Ventricle	heart
42	chr13:110940400-110945400	Weak transcription	Ovary	ovary
43	chr13:110940400-110948200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr13:110940400-110951200	Weak transcription	HSMMtube	muscle
45	chr13:110940400-110953600	Weak transcription	NHEK	skin
46	chr13:110940800-110942600	Strong transcription	HSMM	muscle
47	chr13:110940800-110942800	Strong transcription	Fetal Stomach	stomach
48	chr13:110941000-110944600	Strong transcription	Fetal Muscle Trunk	muscle
49	chr13:110941000-110951000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr13:110941200-110942200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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