Variant report

Variant	rs62531560
Chromosome Location	chr8:92111933-92111934
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:92107839..92110534-chr8:92110820..92113788,2	MCF-7	breast:
2	chr8:92104591..92107005-chr8:92111374..92113896,5	MCF-7	breast:
3	chr8:92110951..92113555-chr8:92117926..92119500,2	MCF-7	breast:
4	chr8:92110691..92113252-chr8:92118062..92119956,2	K562	blood:
5	chr8:92110664..92112974-chr8:92115701..92118510,3	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10100069	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10111323	0.82[AMR][1000 genomes]
rs10216413	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10942	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10956790	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10956791	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10956792	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10956793	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1138489	0.81[EUR][1000 genomes]
rs11557571	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11786324	0.81[EUR][1000 genomes]
rs1180	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12334996	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12542178	0.81[EUR][1000 genomes]
rs12542580	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12544236	0.88[ASN][1000 genomes]
rs12545969	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12546650	0.88[ASN][1000 genomes]
rs12679861	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28429767	0.81[EUR][1000 genomes]
rs28629349	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28750250	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35066004	0.82[AMR][1000 genomes]
rs3808378	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3885969	0.82[AMR][1000 genomes]
rs4373488	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4501548	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4501550	0.81[EUR][1000 genomes]
rs55775840	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56084507	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56278134	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56306245	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58278856	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62526680	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6471265	0.81[EUR][1000 genomes]
rs6993713	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7815938	0.81[EUR][1000 genomes]
rs7816107	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7819178	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7820904	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7832592	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7841266	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8081	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9643319	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9918929	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv2758623	chr8:91974499-92273724	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2759629	chr8:91974499-92273724	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv831390	chr8:92037011-92198605	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv611721	chr8:92107070-92183658	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv891186	chr8:92110936-92187738	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv891187	chr8:92110936-92188940	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv891188	chr8:92110936-92191011	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92083000-92147800	Weak transcription	Spleen	Spleen
2	chr8:92083200-92113200	Weak transcription	Esophagus	oesophagus
3	chr8:92083400-92124400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:92083600-92112000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:92083600-92113000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:92083600-92114800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:92083600-92150800	Weak transcription	Pancreas	Pancrea
8	chr8:92084000-92124600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:92085000-92125800	Weak transcription	Small Intestine	intestine
10	chr8:92091200-92133800	Weak transcription	NHLF	lung
11	chr8:92091800-92137800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:92092600-92116800	Weak transcription	Brain Hippocampus Middle	brain
13	chr8:92092600-92147800	Weak transcription	Right Ventricle	heart
14	chr8:92092800-92124400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr8:92094200-92125200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr8:92095200-92124400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:92095200-92130800	Weak transcription	HSMMtube	muscle
18	chr8:92095800-92126600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr8:92096800-92135000	Weak transcription	Hela-S3	cervix
20	chr8:92097200-92127000	Weak transcription	Colon Smooth Muscle	Colon
21	chr8:92097400-92126400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr8:92097400-92130800	Weak transcription	Osteobl	bone
23	chr8:92097400-92146200	Weak transcription	Psoas Muscle	Psoas
24	chr8:92098200-92124600	Weak transcription	HUVEC	blood vessel
25	chr8:92098600-92122800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr8:92100400-92112200	Weak transcription	Stomach Mucosa	stomach
27	chr8:92100400-92115000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:92100800-92130800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr8:92101400-92118800	Weak transcription	Fetal Brain Female	brain
30	chr8:92102600-92114800	Weak transcription	NH-A	brain
31	chr8:92104400-92117800	Weak transcription	Brain Angular Gyrus	brain
32	chr8:92104400-92124400	Weak transcription	Gastric	stomach
33	chr8:92104600-92114800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr8:92104600-92116800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr8:92104600-92117000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr8:92104600-92126000	Weak transcription	Fetal Intestine Large	intestine
37	chr8:92104600-92129600	Weak transcription	Brain Anterior Caudate	brain
38	chr8:92104800-92112200	Weak transcription	Colonic Mucosa	Colon
39	chr8:92104800-92115000	Weak transcription	Aorta	Aorta
40	chr8:92104800-92124400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr8:92104800-92124400	Weak transcription	Ovary	ovary
42	chr8:92104800-92125400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr8:92104800-92126200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr8:92104800-92130600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:92104800-92134200	Weak transcription	Thymus	Thymus
46	chr8:92104800-92148000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr8:92105000-92119800	Weak transcription	Placenta	Placenta
48	chr8:92105800-92125800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr8:92106000-92115000	Weak transcription	Left Ventricle	heart
50	chr8:92106000-92120000	Weak transcription	Rectal Mucosa Donor 29	rectum

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