Variant report

Variant	rs74124165
Chromosome Location	chr13:110785385-110785386
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]
rs12323222	1.00[EUR][1000 genomes]
rs1445086	1.00[EUR][1000 genomes]
rs73622449	1.00[EUR][1000 genomes]
rs73622467	1.00[EUR][1000 genomes]
rs9588095	1.00[EUR][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:52 , 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	chr13:110779800-110787400	Weak transcription	Brain Angular Gyrus	brain
3	chr13:110780400-110787200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr13:110780600-110789400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr13:110780600-110790400	Weak transcription	Spleen	Spleen
6	chr13:110781200-110789200	Weak transcription	NHEK	skin
7	chr13:110781200-110789400	Weak transcription	Adipose Nuclei	Adipose
8	chr13:110781400-110789200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr13:110781800-110789000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr13:110782000-110789200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr13:110782200-110787400	Weak transcription	Psoas Muscle	Psoas
12	chr13:110782400-110787800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr13:110782400-110789200	Weak transcription	Right Ventricle	heart
14	chr13:110782800-110788800	Enhancers	Fetal Muscle Leg	muscle
15	chr13:110783000-110786200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr13:110783000-110786800	Enhancers	Fetal Muscle Trunk	muscle
17	chr13:110783000-110787400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr13:110783600-110788600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr13:110783800-110785600	Enhancers	HSMM	muscle
20	chr13:110783800-110789200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr13:110784000-110786400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr13:110784000-110786800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr13:110784000-110789200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr13:110784000-110790200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr13:110784400-110785600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr13:110784400-110788200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr13:110784400-110789200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr13:110784400-110789600	Enhancers	Fetal Heart	heart
29	chr13:110784400-110790400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr13:110784600-110785400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr13:110784600-110785400	Flanking Active TSS	HSMMtube	muscle
32	chr13:110784600-110785600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr13:110784600-110785600	Enhancers	Brain Germinal Matrix	brain
34	chr13:110784600-110785600	Enhancers	NH-A	brain
35	chr13:110784600-110786400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr13:110784600-110786400	Enhancers	Left Ventricle	heart
37	chr13:110784600-110789400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr13:110784800-110785400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr13:110784800-110785400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr13:110784800-110785400	Enhancers	Osteobl	bone
41	chr13:110784800-110785600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr13:110784800-110786800	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr13:110784800-110789200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr13:110785000-110785400	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr13:110785000-110788600	Enhancers	H1 Cell Line	embryonic stem cell
46	chr13:110785200-110785400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr13:110785200-110785400	Enhancers	Right Atrium	heart
48	chr13:110785200-110786000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr13:110785200-110787000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr13:110785200-110787200	Weak transcription	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links