Variant report

Variant	rs718147
Chromosome Location	chr13:76012306-76012307
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76010975..76013895-chr13:76015597..76017378,2	K562	blood:
2	chr13:76010975..76013105-chr13:76023574..76025826,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs4331237	0.87[ASN][1000 genomes]
rs4331238	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4369537	0.88[ASN][1000 genomes]
rs4530003	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4597197	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7334537	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7983963	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7985929	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7995759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9318345	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9530437	0.87[ASN][1000 genomes]
rs9530438	0.94[ASN][1000 genomes]
rs9543927	0.87[ASN][1000 genomes]
rs9543928	0.93[ASN][1000 genomes]
rs9543929	0.92[ASN][1000 genomes]
rs9573541	0.88[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	nsv498067	chr13:75178898-76012362	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv455987	chr13:75972846-76090084	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv562346	chr13:75972846-76090084	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76005200-76014800	Weak transcription	Left Ventricle	heart
2	chr13:76005200-76017200	Weak transcription	Pancreas	Pancrea
3	chr13:76005200-76017600	Weak transcription	Right Atrium	heart
4	chr13:76007400-76017000	Weak transcription	NHLF	lung
5	chr13:76007400-76017600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr13:76007400-76018600	Weak transcription	Esophagus	oesophagus
7	chr13:76007400-76032000	Weak transcription	Gastric	stomach
8	chr13:76007600-76014200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr13:76010000-76012600	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr13:76011000-76014600	Enhancers	Fetal Heart	heart
11	chr13:76011200-76012400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:76011200-76012400	Enhancers	HSMMtube	muscle
13	chr13:76011200-76012400	Enhancers	K562	blood
14	chr13:76011200-76012800	Enhancers	Fetal Kidney	kidney
15	chr13:76011200-76013600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr13:76011200-76014400	Enhancers	HepG2	liver
17	chr13:76011400-76012800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr13:76011600-76012400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr13:76011600-76012600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr13:76011600-76012800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr13:76011800-76012400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr13:76011800-76012400	Enhancers	Osteobl	bone
23	chr13:76011800-76012600	Enhancers	Liver	Liver
24	chr13:76011800-76012600	Enhancers	Fetal Stomach	stomach
25	chr13:76012000-76012600	Enhancers	Ovary	ovary
26	chr13:76012000-76012800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr13:76012000-76012800	Enhancers	Duodenum Mucosa	Duodenum
28	chr13:76012000-76013000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr13:76012000-76016800	Weak transcription	Fetal Lung	lung
30	chr13:76012000-76017000	Weak transcription	Fetal Muscle Leg	muscle
31	chr13:76012000-76019800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr13:76012000-76033000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr13:76012200-76012800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr13:76012200-76013800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr13:76012200-76013800	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr13:76012200-76013800	Weak transcription	Psoas Muscle	Psoas
37	chr13:76012200-76016800	Weak transcription	Colon Smooth Muscle	Colon
38	chr13:76012200-76017000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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