Variant report

Variant	rs1193070
Chromosome Location	chr13:110928119-110928120
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1193069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2847468	0.98[ASN][1000 genomes]
rs476241	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs497888	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs540519	0.80[ASN][1000 genomes]
rs554882	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs572713	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs641314	0.80[ASN][1000 genomes]
rs669398	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs671633	0.81[ASN][1000 genomes]
rs680860	0.80[ASN][1000 genomes]
rs681777	0.80[ASN][1000 genomes]
rs686642	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110915200-110936200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr13:110915600-110935800	Weak transcription	Gastric	stomach
3	chr13:110916600-110935800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr13:110917400-110939000	Weak transcription	Fetal Intestine Large	intestine
5	chr13:110918200-110935800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr13:110918800-110930000	Weak transcription	Fetal Intestine Small	intestine
7	chr13:110919200-110928400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr13:110919600-110928600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr13:110919600-110938600	Weak transcription	HMEC	breast
10	chr13:110919800-110929800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr13:110919800-110937600	Weak transcription	NHEK	skin
12	chr13:110920000-110929400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr13:110920200-110951200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr13:110920600-110934200	Weak transcription	Pancreas	Pancrea
15	chr13:110921000-110929000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr13:110921200-110929800	Weak transcription	Fetal Lung	lung
17	chr13:110921400-110935800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr13:110921400-110935800	Weak transcription	Esophagus	oesophagus
19	chr13:110922200-110935800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr13:110922600-110934000	Weak transcription	HSMM	muscle
21	chr13:110922600-110934200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr13:110923400-110931200	Weak transcription	Lung	lung
23	chr13:110923800-110929600	Enhancers	Fetal Heart	heart
24	chr13:110924000-110929400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr13:110924400-110929400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr13:110925400-110949000	Weak transcription	Fetal Kidney	kidney
27	chr13:110925600-110928200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr13:110925600-110932000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr13:110925600-110936200	Weak transcription	HSMMtube	muscle
30	chr13:110925800-110932600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr13:110925800-110934600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr13:110926000-110928400	Enhancers	Adipose Nuclei	Adipose
33	chr13:110926200-110930000	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr13:110926200-110934200	Weak transcription	Psoas Muscle	Psoas
35	chr13:110926200-110937800	Weak transcription	HUVEC	blood vessel
36	chr13:110926600-110929200	Enhancers	Right Atrium	heart
37	chr13:110926600-110929600	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr13:110926600-110930000	Enhancers	Left Ventricle	heart
39	chr13:110926600-110932000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr13:110926600-110932600	Enhancers	Colon Smooth Muscle	Colon
41	chr13:110926600-110934800	Enhancers	Rectal Smooth Muscle	rectum
42	chr13:110926800-110930200	Enhancers	Fetal Muscle Leg	muscle
43	chr13:110926800-110930200	Enhancers	Ovary	ovary
44	chr13:110927000-110929400	Enhancers	Stomach Smooth Muscle	stomach
45	chr13:110927000-110930800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr13:110927000-110934000	Enhancers	NHDF-Ad	bronchial
47	chr13:110927200-110928800	Weak transcription	Osteobl	bone
48	chr13:110927400-110928400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr13:110927400-110929000	Weak transcription	Right Ventricle	heart
50	chr13:110927400-110932000	Weak transcription	Placenta	Placenta

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