Variant report

Variant	rs66553690
Chromosome Location	chr13:110939664-110939665
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12855875	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12870961	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34097827	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4773139	0.91[EUR][1000 genomes]
rs57541979	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57931605	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58775672	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60185726	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66500342	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72655725	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7984097	0.84[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	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:67 , 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	chr13:110931400-110941400	Weak transcription	Fetal Intestine Small	intestine
5	chr13:110934000-110940000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr13:110934000-110940400	Enhancers	Fetal Heart	heart
7	chr13:110934000-110941400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr13:110934400-110945400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:110934600-110940400	Genic enhancers	Fetal Muscle Leg	muscle
10	chr13:110935600-110940400	Enhancers	Right Atrium	heart
11	chr13:110935800-110940200	Enhancers	Lung	lung
12	chr13:110935800-110940200	Genic enhancers	NH-A	brain
13	chr13:110935800-110940400	Genic enhancers	Adipose Nuclei	Adipose
14	chr13:110936000-110940200	Enhancers	NHDF-Ad	bronchial
15	chr13:110936200-110940600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr13:110936200-110951000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr13:110936200-110958800	Weak transcription	Gastric	stomach
18	chr13:110936600-110941400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr13:110937000-110943200	Weak transcription	Colonic Mucosa	Colon
20	chr13:110937000-110955400	Weak transcription	A549	lung
21	chr13:110937200-110940200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr13:110937200-110940400	Enhancers	Placenta	Placenta
23	chr13:110937400-110941400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr13:110937400-110951000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr13:110937400-110952000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr13:110937600-110940000	Genic enhancers	Fetal Stomach	stomach
27	chr13:110937600-110940200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr13:110937800-110946000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr13:110937800-110947600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr13:110937800-110950600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr13:110938000-110951200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr13:110938200-110940200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr13:110938200-110940400	Enhancers	Ovary	ovary
34	chr13:110938200-110940400	Enhancers	Right Ventricle	heart
35	chr13:110938400-110940200	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr13:110938400-110940200	Genic enhancers	Fetal Muscle Trunk	muscle
37	chr13:110938400-110940200	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr13:110938400-110940200	Enhancers	Spleen	Spleen
39	chr13:110938400-110940400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr13:110938400-110947000	Strong transcription	Osteobl	bone
41	chr13:110938600-110940400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr13:110938600-110940400	Enhancers	HMEC	breast
43	chr13:110938600-110940400	Enhancers	NHEK	skin
44	chr13:110938800-110940200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr13:110939000-110940400	Enhancers	HSMMtube	muscle
46	chr13:110939200-110939800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr13:110939200-110940000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr13:110939200-110940400	Enhancers	Left Ventricle	heart
49	chr13:110939200-110940800	Genic enhancers	HSMM	muscle
50	chr13:110939200-110949400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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