Variant report

Variant	rs11562767
Chromosome Location	chr8:119033770-119033771
allele	A/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:10)

rs_ID	r²[population]
rs11562672	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11562700	1.00[AMR][1000 genomes]
rs11562701	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11562729	1.00[AMR][1000 genomes]
rs11562732	1.00[AMR][1000 genomes]
rs11562734	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17476463	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17505283	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6984750	1.00[AMR][1000 genomes]
rs6997044	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1025002	chr8:118970940-119069418	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119021800-119036000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:119024200-119038000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:119024600-119033800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:119024800-119036000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:119024800-119036600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:119024800-119037000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:119025000-119038200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:119026200-119034400	Enhancers	Small Intestine	intestine
9	chr8:119027000-119034400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:119029000-119036000	Weak transcription	Right Ventricle	heart
11	chr8:119029000-119038200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:119029200-119034400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:119029200-119036000	Weak transcription	Esophagus	oesophagus
14	chr8:119029600-119034600	Enhancers	Fetal Intestine Large	intestine
15	chr8:119029800-119034600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr8:119029800-119034600	Enhancers	Liver	Liver
17	chr8:119030000-119036000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:119030000-119040600	Enhancers	Fetal Intestine Small	intestine
19	chr8:119030200-119035600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr8:119030200-119035600	Weak transcription	Left Ventricle	heart
21	chr8:119030200-119037400	Weak transcription	Pancreas	Pancrea
22	chr8:119030600-119035200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr8:119030600-119035400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr8:119030600-119036000	Weak transcription	Fetal Brain Female	brain
25	chr8:119030800-119035400	Weak transcription	Fetal Heart	heart
26	chr8:119030800-119035600	Weak transcription	Ovary	ovary
27	chr8:119030800-119036000	Weak transcription	Fetal Muscle Leg	muscle
28	chr8:119030800-119037000	Weak transcription	Gastric	stomach
29	chr8:119030800-119037200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:119031000-119034400	Enhancers	Hela-S3	cervix
31	chr8:119031200-119035200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr8:119031400-119033800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr8:119031400-119034000	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr8:119031400-119034200	Enhancers	Rectal Smooth Muscle	rectum
35	chr8:119031400-119035600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr8:119031800-119034400	Enhancers	NHLF	lung
37	chr8:119031800-119035600	Weak transcription	Psoas Muscle	Psoas
38	chr8:119032000-119033800	Weak transcription	HepG2	liver
39	chr8:119032000-119034000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:119032000-119034000	Weak transcription	Aorta	Aorta
41	chr8:119032000-119034200	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr8:119032000-119034400	Enhancers	HMEC	breast
43	chr8:119032000-119034600	Enhancers	Duodenum Mucosa	Duodenum
44	chr8:119032000-119034600	Enhancers	NHDF-Ad	bronchial
45	chr8:119032000-119035200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr8:119032000-119035400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:119032000-119035600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr8:119032000-119036000	Weak transcription	Stomach Mucosa	stomach
49	chr8:119032000-119036200	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr8:119032000-119037000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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