Variant report

Variant	rs4314681
Chromosome Location	chr8:61823661-61823662
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10957168	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780935	0.97[ASN][1000 genomes]
rs11783902	0.97[ASN][1000 genomes]
rs11784276	0.96[ASN][1000 genomes]
rs11784344	0.96[ASN][1000 genomes]
rs11784761	0.97[ASN][1000 genomes]
rs11787017	0.96[ASN][1000 genomes]
rs12549487	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926569	0.93[ASN][1000 genomes]
rs61448706	0.96[ASN][1000 genomes]
rs62525899	0.97[ASN][1000 genomes]
rs62525901	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6993866	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6994028	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72652539	0.94[ASN][1000 genomes]
rs7840653	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv1795586	chr8:61733174-61863906	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv429919	chr8:61771472-61979873	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv890947	chr8:61815886-61882751	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	esv3327831	chr8:61821423-61824171	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61820800-61825400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr8:61821000-61826400	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr8:61821200-61823800	Active TSS	Rectal Smooth Muscle	rectum
4	chr8:61821400-61826400	Enhancers	Placenta	Placenta
5	chr8:61822400-61823800	Weak transcription	HepG2	liver
6	chr8:61822400-61824400	Weak transcription	Dnd41	blood
7	chr8:61822600-61823800	Enhancers	HSMMtube	muscle
8	chr8:61822600-61824400	Enhancers	Liver	Liver
9	chr8:61822600-61824600	Enhancers	Stomach Mucosa	stomach
10	chr8:61822600-61825400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
11	chr8:61822600-61826600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:61822800-61823800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr8:61822800-61824400	Enhancers	Colon Smooth Muscle	Colon
14	chr8:61822800-61825400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr8:61822800-61826000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr8:61823000-61823800	Enhancers	Primary hematopoietic stem cells	blood
17	chr8:61823000-61823800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr8:61823000-61823800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr8:61823000-61824200	Weak transcription	Gastric	stomach
20	chr8:61823000-61824200	Weak transcription	Right Ventricle	heart
21	chr8:61823000-61824600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr8:61823000-61825200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr8:61823000-61825400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:61823000-61825600	Enhancers	Lung	lung
25	chr8:61823000-61825800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:61823000-61826600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:61823000-61830800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr8:61823000-61834800	Weak transcription	Pancreas	Pancrea
29	chr8:61823200-61823800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:61823200-61823800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:61823200-61823800	Enhancers	Adipose Nuclei	Adipose
32	chr8:61823200-61823800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:61823200-61823800	Active TSS	Colonic Mucosa	Colon
34	chr8:61823200-61824000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:61823200-61824000	Bivalent Enhancer	HMEC	breast
36	chr8:61823200-61824200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:61823200-61824200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:61823200-61824200	Enhancers	Brain Cingulate Gyrus	brain
39	chr8:61823200-61824200	Enhancers	Duodenum Mucosa	Duodenum
40	chr8:61823200-61824200	Weak transcription	Left Ventricle	heart
41	chr8:61823200-61824200	Weak transcription	Right Atrium	heart
42	chr8:61823200-61824200	Weak transcription	Spleen	Spleen
43	chr8:61823200-61824200	Enhancers	Hela-S3	cervix
44	chr8:61823200-61824400	Enhancers	Brain Angular Gyrus	brain
45	chr8:61823200-61824400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
46	chr8:61823200-61824400	Enhancers	NH-A	brain
47	chr8:61823200-61824600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr8:61823200-61824600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:61823200-61824600	Enhancers	Osteobl	bone
50	chr8:61823200-61824800	Enhancers	Brain Anterior Caudate	brain

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