Variant report

Variant	rs506960
Chromosome Location	chr8:8630269-8630270
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1039916	0.90[CHB][hapmap]
rs11249891	0.84[ASN][1000 genomes]
rs12677543	0.91[ASN][1000 genomes]
rs12677550	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12682352	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs13254903	0.82[CHB][hapmap]
rs1567398	0.82[CHB][hapmap]
rs1705179	0.97[ASN][1000 genomes]
rs2271342	0.89[ASN][1000 genomes]
rs2428	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs332039	0.82[CHB][hapmap]
rs332040	0.82[CHB][hapmap]
rs3827806	0.82[CHB][hapmap]
rs408459	0.82[CHB][hapmap]
rs437895	0.82[CHB][hapmap]
rs4382480	0.82[CHB][hapmap]
rs440788	0.82[CHB][hapmap]
rs476845	0.97[ASN][1000 genomes]
rs4841051	0.90[CHB][hapmap]
rs4841055	0.90[CHB][hapmap]
rs484329	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs486781	0.95[ASN][1000 genomes]
rs488566	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs492332	0.95[ASN][1000 genomes]
rs506386	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs520197	0.88[AFR][1000 genomes]
rs534103	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs535094	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs537878	0.93[AFR][1000 genomes]
rs560544	0.94[ASN][1000 genomes]
rs565203	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs572059	0.84[AFR][1000 genomes]
rs575169	0.95[ASN][1000 genomes]
rs583500	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs609958	0.95[ASN][1000 genomes]
rs612182	0.81[AFR][1000 genomes]
rs612246	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs614458	0.97[ASN][1000 genomes]
rs614487	0.97[ASN][1000 genomes]
rs617813	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs656070	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs657811	0.94[ASN][1000 genomes]
rs659162	0.86[AFR][1000 genomes]
rs6601265	0.82[CHB][hapmap]
rs686189	0.97[ASN][1000 genomes]
rs7832968	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs907183	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1030433	chr8:8130629-8653691	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv539447	chr8:8130629-8653691	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1033463	chr8:8221922-8674333	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription 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	21 gene(s)	inside rSNPs	diseases
5	nsv539451	chr8:8221922-8674333	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1019613	chr8:8239352-8636357	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv539452	chr8:8239352-8636357	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv1019606	chr8:8353661-8736992	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv539456	chr8:8353661-8736992	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking 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	23 gene(s)	inside rSNPs	diseases
11	nsv1022511	chr8:8493992-8737132	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
12	nsv539457	chr8:8493992-8737132	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
13	esv2762724	chr8:8578794-8630642	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv1795023	chr8:8583943-8655580	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
15	esv1825234	chr8:8583943-8655580	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
16	esv1824870	chr8:8583943-8699382	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
17	nsv610189	chr8:8590437-8664940	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
18	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
19	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
20	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
21	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8621400-8646200	Weak transcription	Right Atrium	heart
2	chr8:8628400-8630400	Weak transcription	Gastric	stomach
3	chr8:8628600-8632000	Enhancers	Stomach Mucosa	stomach
4	chr8:8628600-8632600	Enhancers	Fetal Intestine Small	intestine
5	chr8:8629000-8631000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:8629000-8631400	Enhancers	HSMMtube	muscle
7	chr8:8629400-8630400	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr8:8629400-8630800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr8:8629600-8630400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:8629600-8631000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:8629600-8631200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:8629600-8631200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr8:8629600-8631600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr8:8629600-8631800	Enhancers	Liver	Liver
15	chr8:8629800-8630600	Enhancers	Fetal Brain Female	brain
16	chr8:8629800-8630800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr8:8629800-8630800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:8629800-8631000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr8:8629800-8631000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:8629800-8631000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr8:8629800-8631000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr8:8629800-8631000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:8629800-8631000	Enhancers	Pancreas	Pancrea
24	chr8:8629800-8631200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr8:8629800-8631400	Enhancers	Fetal Muscle Leg	muscle
26	chr8:8630000-8630400	Enhancers	H9 Cell Line	embryonic stem cell
27	chr8:8630000-8630400	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr8:8630000-8630600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:8630000-8630600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr8:8630000-8630800	Enhancers	Fetal Thymus	thymus
31	chr8:8630000-8630800	Enhancers	K562	blood
32	chr8:8630000-8631000	Enhancers	Fetal Stomach	stomach
33	chr8:8630200-8630600	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr8:8630200-8630600	Flanking Active TSS	Fetal Intestine Large	intestine
35	chr8:8630200-8630600	Enhancers	Fetal Lung	lung
36	chr8:8630200-8630600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr8:8630200-8630800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:8630200-8630800	Flanking Active TSS	HepG2	liver
39	chr8:8630200-8631000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:8630200-8631200	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr8:8630200-8631200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:8630200-8631200	Enhancers	Fetal Muscle Trunk	muscle
43	chr8:8630200-8631200	Enhancers	Placenta	Placenta
44	chr8:8630200-8631200	Enhancers	Ovary	ovary
45	chr8:8630200-8631400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:8630200-8636800	Weak transcription	Fetal Kidney	kidney

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