Variant report

Variant	rs56936550
Chromosome Location	chr8:11555398-11555399
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11994925	1.00[ASN][1000 genomes]
rs58258057	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59035560	1.00[ASN][1000 genomes]
rs59799643	1.00[ASN][1000 genomes]
rs59946151	1.00[ASN][1000 genomes]
rs60197293	1.00[ASN][1000 genomes]
rs60893253	1.00[ASN][1000 genomes]
rs7011491	1.00[ASN][1000 genomes]
rs73203490	1.00[ASN][1000 genomes]
rs73203493	1.00[ASN][1000 genomes]
rs73537869	1.00[ASN][1000 genomes]
rs73547720	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 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	chr8:11551400-11557800	Weak transcription	Pancreas	Pancrea
2	chr8:11553200-11555400	Bivalent Enhancer	Fetal Intestine Small	intestine
3	chr8:11554200-11555600	Bivalent Enhancer	Fetal Intestine Large	intestine
4	chr8:11554200-11557000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
5	chr8:11554400-11555600	Enhancers	Gastric	stomach
6	chr8:11554400-11557200	Bivalent Enhancer	Placenta	Placenta
7	chr8:11554400-11557800	Enhancers	Left Ventricle	heart
8	chr8:11554600-11555600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr8:11554600-11555800	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:11554600-11555800	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:11554800-11555400	Enhancers	Fetal Heart	heart
12	chr8:11554800-11555600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
13	chr8:11554800-11555800	Flanking Active TSS	Ovary	ovary
14	chr8:11554800-11556400	Bivalent Enhancer	HepG2	liver
15	chr8:11555000-11555400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr8:11555000-11555400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
17	chr8:11555000-11555400	Bivalent Enhancer	Stomach Mucosa	stomach
18	chr8:11555000-11555600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:11555000-11555600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr8:11555000-11555600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr8:11555000-11555600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:11555000-11555600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:11555000-11555600	Bivalent Enhancer	Psoas Muscle	Psoas
24	chr8:11555000-11556000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
25	chr8:11555000-11556000	Flanking Active TSS	Right Atrium	heart
26	chr8:11555000-11556200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr8:11555000-11556200	Bivalent Enhancer	Lung	lung
28	chr8:11555000-11558200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
29	chr8:11555200-11555400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
30	chr8:11555200-11555400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:11555200-11555400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:11555200-11555400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:11555200-11555400	Bivalent Enhancer	Liver	Liver
34	chr8:11555200-11555400	Bivalent Enhancer	Brain Hippocampus Middle	brain
35	chr8:11555200-11555600	Flanking Active TSS	Right Ventricle	heart
36	chr8:11555200-11555800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:11555200-11555800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr8:11555200-11556000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell

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