Variant report

Variant	rs56696632
Chromosome Location	chr8:86167884-86167885
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:86161188..86163742-chr8:86167542..86169520,2	K562	blood:
2	chr8:86156346..86159536-chr8:86165485..86168710,4	K562	blood:
3	chr8:86166893..86168765-chr8:86170470..86172602,2	K562	blood:

Variant related genes	Relation type
ENSG00000257962	Chromatin interaction
ENSG00000258256	Chromatin interaction
ENSG00000185015	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs4150842	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4150875	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4150888	0.81[AFR][1000 genomes]
rs4150892	0.81[AFR][1000 genomes]
rs4150899	0.81[AFR][1000 genomes]
rs4150978	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55716338	1.00[AFR][1000 genomes]
rs56000993	1.00[AFR][1000 genomes]
rs56391532	1.00[AFR][1000 genomes]
rs56910369	1.00[AMR][1000 genomes]
rs57413097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58060795	0.81[AFR][1000 genomes]
rs58078635	1.00[AFR][1000 genomes]
rs58532476	1.00[AFR][1000 genomes]
rs58547590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61315346	1.00[AFR][1000 genomes]
rs73688676	1.00[AMR][1000 genomes]
rs73688677	1.00[AMR][1000 genomes]
rs73688685	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73688687	1.00[AFR][1000 genomes]
rs73688689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73688696	1.00[AFR][1000 genomes]
rs73688700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73691803	1.00[AFR][1000 genomes]
rs73691805	1.00[AFR][1000 genomes]
rs73691806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73691808	1.00[AFR][1000 genomes]
rs73691810	1.00[AFR][1000 genomes]
rs73691811	1.00[AFR][1000 genomes]
rs73691812	1.00[AFR][1000 genomes]
rs73691814	1.00[AFR][1000 genomes]
rs73691815	1.00[AFR][1000 genomes]
rs73691817	1.00[AFR][1000 genomes]
rs73691820	1.00[AFR][1000 genomes]
rs73691824	1.00[AFR][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	nsv971329	chr8:86094967-86183119	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1024759	chr8:86162507-86361533	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv539659	chr8:86162507-86361533	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86158400-86172600	Weak transcription	Left Ventricle	heart
2	chr8:86158400-86174000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:86158400-86178200	Weak transcription	Small Intestine	intestine
4	chr8:86158400-86178200	Weak transcription	Stomach Mucosa	stomach
5	chr8:86158400-86179400	Weak transcription	Gastric	stomach
6	chr8:86158400-86180800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:86158400-86185800	Weak transcription	Lung	lung
8	chr8:86158400-86188200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:86158400-86188200	Weak transcription	Esophagus	oesophagus
10	chr8:86158400-86191400	Weak transcription	Pancreas	Pancrea
11	chr8:86158800-86171200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:86158800-86171200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr8:86158800-86172400	Weak transcription	Fetal Intestine Large	intestine
14	chr8:86158800-86179400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr8:86158800-86185600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:86158800-86185800	Weak transcription	Fetal Stomach	stomach
17	chr8:86158800-86186800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:86158800-86189600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:86158800-86191400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr8:86159000-86171200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr8:86160000-86169200	Weak transcription	Fetal Lung	lung
22	chr8:86160000-86172600	Weak transcription	HepG2	liver
23	chr8:86161200-86171200	Weak transcription	Primary B cells from cord blood	blood
24	chr8:86162600-86171600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:86163200-86168200	Strong transcription	Fetal Intestine Small	intestine
26	chr8:86166600-86168000	Enhancers	NHEK	skin
27	chr8:86167000-86168000	Enhancers	HMEC	breast
28	chr8:86167200-86168000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:86167200-86168200	Enhancers	HSMMtube	muscle
30	chr8:86167400-86168000	Enhancers	GM12878-XiMat	blood
31	chr8:86167400-86168000	Enhancers	HSMM	muscle
32	chr8:86167400-86174400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr8:86167600-86168000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:86167600-86178800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:86167600-86182600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:86167800-86171200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr8:86167800-86172400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:86167800-86185600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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