Variant report

Variant	rs9530438
Chromosome Location	chr13:76011842-76011843
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: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs4331237	0.83[ASN][1000 genomes]
rs4331238	0.92[ASN][1000 genomes]
rs4369537	0.94[ASN][1000 genomes]
rs4530003	0.94[ASN][1000 genomes]
rs4597197	0.94[ASN][1000 genomes]
rs718147	0.94[ASN][1000 genomes]
rs7334537	0.94[ASN][1000 genomes]
rs7983963	0.88[ASN][1000 genomes]
rs7985929	0.88[ASN][1000 genomes]
rs7995198	0.81[EUR][1000 genomes]
rs7995759	0.92[ASN][1000 genomes]
rs9318345	0.89[ASN][1000 genomes]
rs9530437	0.82[ASN][1000 genomes]
rs9543924	0.81[EUR][1000 genomes]
rs9543927	0.82[ASN][1000 genomes]
rs9543928	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9543929	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9565163	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9573541	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[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	chr13:76007600-76012200	Weak transcription	Right Ventricle	heart
9	chr13:76007600-76014200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr13:76010000-76012600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr13:76010600-76012000	Weak transcription	Ovary	ovary
12	chr13:76010600-76012200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr13:76011000-76014600	Enhancers	Fetal Heart	heart
14	chr13:76011200-76012000	Enhancers	Fetal Lung	lung
15	chr13:76011200-76012400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr13:76011200-76012400	Enhancers	HSMMtube	muscle
17	chr13:76011200-76012400	Enhancers	K562	blood
18	chr13:76011200-76012800	Enhancers	Fetal Kidney	kidney
19	chr13:76011200-76013600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr13:76011200-76014400	Enhancers	HepG2	liver
21	chr13:76011400-76012800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr13:76011600-76012200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr13:76011600-76012200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr13:76011600-76012400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr13:76011600-76012600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:76011600-76012800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr13:76011800-76012000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr13:76011800-76012000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr13:76011800-76012000	Enhancers	Colon Smooth Muscle	Colon
30	chr13:76011800-76012000	Enhancers	Fetal Muscle Leg	muscle
31	chr13:76011800-76012200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr13:76011800-76012200	Enhancers	Psoas Muscle	Psoas
33	chr13:76011800-76012200	Enhancers	Small Intestine	intestine
34	chr13:76011800-76012200	Enhancers	NHDF-Ad	bronchial
35	chr13:76011800-76012400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr13:76011800-76012400	Enhancers	Osteobl	bone
37	chr13:76011800-76012600	Enhancers	Liver	Liver
38	chr13:76011800-76012600	Enhancers	Fetal Stomach	stomach

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