Variant report

Variant	rs2000660
Chromosome Location	chr13:110788441-110788442
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12875271	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13260	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs650724	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs656533	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs686090	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901006	chr13:110748857-110806490	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv456115	chr13:110756664-110806490	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv563100	chr13:110756664-110806490	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv1052147	chr13:110765635-110917782	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110779600-110789400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:110780600-110789400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:110780600-110790400	Weak transcription	Spleen	Spleen
4	chr13:110781200-110789200	Weak transcription	NHEK	skin
5	chr13:110781200-110789400	Weak transcription	Adipose Nuclei	Adipose
6	chr13:110781400-110789200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr13:110781800-110789000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr13:110782000-110789200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr13:110782400-110789200	Weak transcription	Right Ventricle	heart
10	chr13:110782800-110788800	Enhancers	Fetal Muscle Leg	muscle
11	chr13:110783600-110788600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr13:110783800-110789200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr13:110784000-110789200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr13:110784000-110790200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr13:110784400-110789200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr13:110784400-110789600	Enhancers	Fetal Heart	heart
17	chr13:110784400-110790400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:110784600-110789400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr13:110784800-110789200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr13:110785000-110788600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr13:110785200-110789200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr13:110785400-110788600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr13:110785400-110789200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr13:110785400-110789400	Weak transcription	Osteobl	bone
25	chr13:110785400-110789600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr13:110785600-110788800	Weak transcription	Brain Germinal Matrix	brain
27	chr13:110785600-110789200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr13:110785600-110789400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr13:110786000-110789400	Enhancers	H9 Cell Line	embryonic stem cell
30	chr13:110786200-110789200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr13:110787000-110789600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr13:110787200-110789000	Enhancers	Fetal Muscle Trunk	muscle
33	chr13:110787200-110790000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr13:110787200-110790000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr13:110787400-110790000	Enhancers	Left Ventricle	heart
36	chr13:110787400-110790000	Enhancers	NH-A	brain
37	chr13:110787600-110789400	Weak transcription	Brain Anterior Caudate	brain
38	chr13:110787600-110789400	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr13:110787600-110789400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr13:110787600-110790200	Weak transcription	Aorta	Aorta
41	chr13:110787800-110788800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr13:110787800-110789600	Weak transcription	Brain Angular Gyrus	brain
43	chr13:110788000-110789200	Weak transcription	HSMMtube	muscle
44	chr13:110788000-110789400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr13:110788000-110789600	Weak transcription	HSMM	muscle
46	chr13:110788200-110788600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr13:110788200-110789200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr13:110788200-110789200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr13:110788200-110789600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr13:110788400-110788600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links