Variant report

Variant	rs66500342
Chromosome Location	chr13:110937565-110937566
allele	A/G
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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12870961	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34097827	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4773139	0.94[EUR][1000 genomes]
rs57541979	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57931605	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58775672	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60185726	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66553690	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72655725	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7984097	0.87[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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110917400-110939000	Weak transcription	Fetal Intestine Large	intestine
2	chr13:110919600-110938600	Weak transcription	HMEC	breast
3	chr13:110919800-110937600	Weak transcription	NHEK	skin
4	chr13:110920200-110951200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr13:110925400-110949000	Weak transcription	Fetal Kidney	kidney
6	chr13:110926200-110937800	Weak transcription	HUVEC	blood vessel
7	chr13:110927400-110939000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:110928600-110951000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr13:110931400-110941400	Weak transcription	Fetal Intestine Small	intestine
10	chr13:110932400-110938400	Weak transcription	Spleen	Spleen
11	chr13:110932600-110939200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr13:110933000-110938400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:110933000-110939200	Enhancers	Colon Smooth Muscle	Colon
14	chr13:110934000-110940000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr13:110934000-110940400	Enhancers	Fetal Heart	heart
16	chr13:110934000-110941400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr13:110934400-110938800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr13:110934400-110945400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr13:110934600-110940400	Genic enhancers	Fetal Muscle Leg	muscle
20	chr13:110934800-110938600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr13:110935000-110938400	Genic enhancers	Osteobl	bone
22	chr13:110935000-110939400	Enhancers	Rectal Smooth Muscle	rectum
23	chr13:110935600-110940400	Enhancers	Right Atrium	heart
24	chr13:110935800-110938000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr13:110935800-110938200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr13:110935800-110938600	Enhancers	NHLF	lung
27	chr13:110935800-110939000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr13:110935800-110940200	Enhancers	Lung	lung
29	chr13:110935800-110940200	Genic enhancers	NH-A	brain
30	chr13:110935800-110940400	Genic enhancers	Adipose Nuclei	Adipose
31	chr13:110936000-110937800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr13:110936000-110940200	Enhancers	NHDF-Ad	bronchial
33	chr13:110936200-110937800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr13:110936200-110940600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr13:110936200-110951000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr13:110936200-110958800	Weak transcription	Gastric	stomach
37	chr13:110936400-110937600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr13:110936400-110937800	Weak transcription	Right Ventricle	heart
39	chr13:110936400-110939200	Weak transcription	Stomach Mucosa	stomach
40	chr13:110936600-110937600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr13:110936600-110937800	Genic enhancers	HSMM	muscle
42	chr13:110936600-110938000	Weak transcription	Pancreas	Pancrea
43	chr13:110936600-110938400	Weak transcription	Esophagus	oesophagus
44	chr13:110936600-110938400	Strong transcription	Fetal Muscle Trunk	muscle
45	chr13:110936600-110938800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr13:110936600-110939000	Weak transcription	Psoas Muscle	Psoas
47	chr13:110936600-110939000	Weak transcription	HSMMtube	muscle
48	chr13:110936600-110939400	Weak transcription	Fetal Lung	lung
49	chr13:110936600-110941400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr13:110936800-110938200	Weak transcription	Ovary	ovary

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