Variant report

Variant	rs9559792
Chromosome Location	chr13:111059093-111059094
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1536622	0.91[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs4132949	0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4555010	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4773180	0.91[CHB][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61963204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9555696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9559785	0.87[JPT][hapmap];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9559786	0.87[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9559789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9559790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9559791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9559793	0.91[CHB][hapmap];0.82[JPT][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9559794	0.85[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.82[GIH][hapmap];0.87[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv2751128	chr13:111040798-111132490	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111043000-111059200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:111043000-111060000	Weak transcription	A549	lung
3	chr13:111045600-111059400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr13:111049000-111059600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr13:111050200-111064400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:111050200-111066000	Enhancers	NHDF-Ad	bronchial
7	chr13:111050200-111075200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:111050400-111060400	Enhancers	HSMMtube	muscle
9	chr13:111050800-111059600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr13:111051400-111059400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr13:111051600-111060000	Weak transcription	Gastric	stomach
12	chr13:111051800-111059600	Weak transcription	Aorta	Aorta
13	chr13:111052000-111059600	Weak transcription	Brain Hippocampus Middle	brain
14	chr13:111052200-111059400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr13:111052200-111063400	Weak transcription	Psoas Muscle	Psoas
16	chr13:111053000-111063600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr13:111054600-111061200	Enhancers	NH-A	brain
18	chr13:111054800-111060200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr13:111054800-111060400	Enhancers	NHLF	lung
20	chr13:111055200-111059600	Weak transcription	Ovary	ovary
21	chr13:111055400-111059400	Weak transcription	Spleen	Spleen
22	chr13:111055400-111059600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr13:111055400-111059800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr13:111056000-111059600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr13:111056200-111059200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr13:111056200-111060800	Enhancers	Left Ventricle	heart
27	chr13:111056200-111066000	Enhancers	Lung	lung
28	chr13:111056400-111060400	Enhancers	Colon Smooth Muscle	Colon
29	chr13:111056600-111059600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr13:111056800-111060200	Enhancers	Rectal Smooth Muscle	rectum
31	chr13:111057000-111059400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr13:111057000-111059400	Enhancers	Fetal Stomach	stomach
33	chr13:111057000-111061200	Enhancers	Fetal Heart	heart
34	chr13:111057400-111059600	Weak transcription	Esophagus	oesophagus
35	chr13:111057400-111061600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr13:111057600-111060000	Enhancers	Adipose Nuclei	Adipose
37	chr13:111057600-111060400	Weak transcription	NHEK	skin
38	chr13:111057800-111059200	Enhancers	Right Ventricle	heart
39	chr13:111057800-111059400	Enhancers	Placenta	Placenta
40	chr13:111057800-111059600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr13:111057800-111064800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr13:111057800-111070400	Enhancers	Right Atrium	heart
43	chr13:111058000-111059400	Enhancers	Fetal Muscle Leg	muscle
44	chr13:111058000-111060200	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr13:111058000-111060200	Weak transcription	HMEC	breast
46	chr13:111058000-111060400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr13:111058000-111061200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr13:111058000-111066000	Enhancers	HUVEC	blood vessel
49	chr13:111058200-111060200	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr13:111058200-111060600	Enhancers	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links