Variant report

Variant	rs58223572
Chromosome Location	chr8:87369784-87369785
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:87361970..87363918-chr8:87368316..87370352,3	MCF-7	breast:
2	chr8:87058976..87060492-chr8:87368579..87370645,2	MCF-7	breast:
3	chr8:87133855..87135900-chr8:87367338..87370319,2	MCF-7	breast:
4	chr8:87329883..87331903-chr8:87367165..87369926,2	MCF-7	breast:
5	chr8:87369363..87371894-chr8:87375149..87378273,3	MCF-7	breast:
6	chr8:87136561..87139259-chr8:87368853..87370693,2	K562	blood:
7	chr8:87365825..87368474-chr8:87368795..87370608,2	K562	blood:
8	chr8:87369687..87371577-chr8:87385919..87388525,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000123124	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs16905416	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1865864	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34473043	1.00[ASN][1000 genomes]
rs35154764	1.00[ASN][1000 genomes]
rs35584329	1.00[ASN][1000 genomes]
rs4332109	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4443643	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4451291	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4520141	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57775185	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57899573	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59329724	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59334514	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59667025	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59686387	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60371751	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61254300	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61291838	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471315	0.96[EUR][1000 genomes]
rs66948125	1.00[ASN][1000 genomes]
rs67671364	1.00[ASN][1000 genomes]
rs68064728	1.00[ASN][1000 genomes]
rs6982851	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988382	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008034	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011900	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015160	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018101	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73254767	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257052	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257083	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257093	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257101	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73260973	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73260982	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73262907	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73262914	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73262917	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73265786	1.00[ASN][1000 genomes]
rs73268833	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73268850	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73268853	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73268855	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73268878	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73268893	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271028	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271033	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271467	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271470	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271472	1.00[ASN][1000 genomes]
rs73271477	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271478	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271482	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271490	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271496	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271500	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271502	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73273117	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73273136	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73273139	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73273140	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73273151	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73273159	0.84[EUR][1000 genomes]
rs73273168	1.00[ASN][1000 genomes]
rs73273405	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73273409	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73273414	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73273418	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73273420	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73273428	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7462792	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7819168	0.87[EUR][1000 genomes]
rs7819287	1.00[ASN][1000 genomes]
rs7822617	1.00[ASN][1000 genomes]
rs7825890	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7833543	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842293	0.89[EUR][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	nsv529563	chr8:86467090-87381984	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv429926	chr8:87161695-87429872	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv3360246	chr8:87200232-87419244	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87355800-87405600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:87356800-87403800	Weak transcription	Aorta	Aorta
3	chr8:87357000-87375600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:87357400-87372600	Weak transcription	Fetal Intestine Small	intestine
5	chr8:87357400-87403400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:87357600-87374600	Weak transcription	HUVEC	blood vessel
7	chr8:87357600-87382200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr8:87357800-87381000	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr8:87357800-87382000	Weak transcription	Placenta	Placenta
10	chr8:87357800-87383200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:87357800-87413600	Weak transcription	Pancreas	Pancrea
12	chr8:87359000-87383600	Weak transcription	Dnd41	blood
13	chr8:87359800-87372600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:87360600-87369800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:87362400-87378200	Weak transcription	Gastric	stomach
16	chr8:87363600-87372600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr8:87363800-87393800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:87364000-87371000	Weak transcription	Psoas Muscle	Psoas
19	chr8:87364000-87397400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr8:87364200-87372600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:87364200-87373200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr8:87364600-87370200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr8:87364800-87370000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:87364800-87370800	Weak transcription	Left Ventricle	heart
25	chr8:87364800-87371600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr8:87365000-87372600	Weak transcription	Right Ventricle	heart
27	chr8:87365200-87370200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr8:87366000-87369800	Weak transcription	Ovary	ovary
29	chr8:87366000-87372600	Weak transcription	Small Intestine	intestine
30	chr8:87366000-87398200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:87366400-87372600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr8:87366600-87370000	Enhancers	Colon Smooth Muscle	Colon
33	chr8:87366800-87369800	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr8:87366800-87423800	Weak transcription	Colonic Mucosa	Colon
35	chr8:87367000-87370000	Enhancers	Fetal Lung	lung
36	chr8:87367000-87370400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:87367400-87375200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr8:87368000-87382600	Weak transcription	Brain Anterior Caudate	brain
39	chr8:87368200-87370200	Enhancers	Fetal Heart	heart
40	chr8:87368200-87379600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:87368200-87384600	Weak transcription	Fetal Intestine Large	intestine
42	chr8:87368200-87386600	Weak transcription	Hela-S3	cervix
43	chr8:87368400-87371200	Weak transcription	HepG2	liver
44	chr8:87368400-87381000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:87368600-87369800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr8:87368600-87371200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr8:87368600-87371800	Enhancers	Liver	Liver
48	chr8:87368600-87374600	Weak transcription	NHEK	skin
49	chr8:87368600-87375400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:87368800-87369800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links