Variant report

Variant	rs73254767
Chromosome Location	chr8:87432669-87432670
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:87432419..87434118-chr8:87442366..87444392,2	K562	blood:
2	chr8:87424501..87430232-chr8:87432301..87437482,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123124	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16905416	1.00[ASN][1000 genomes]
rs1865864	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34473043	1.00[ASN][1000 genomes]
rs35154764	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35584329	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4332109	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4443643	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4451291	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4520141	1.00[AMR][1000 genomes];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]
rs58223572	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59329724	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	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60371751	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[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67671364	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs68064728	1.00[ASN][1000 genomes]
rs6982851	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988382	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008034	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011900	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015160	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018101	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257052	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	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73262914	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73262917	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73265786	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73268833	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73268850	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73268853	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73268855	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73268878	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73268893	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271028	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271033	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271467	1.00[AMR][1000 genomes];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	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271502	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73273117	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73273136	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];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	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7833543	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842293	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1023510	chr8:87429001-87874948	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87379600-87444000	Weak transcription	Brain Germinal Matrix	brain
2	chr8:87382400-87444000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:87385000-87438000	Weak transcription	Fetal Brain Male	brain
4	chr8:87388600-87441200	Weak transcription	Right Ventricle	heart
5	chr8:87404200-87440600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:87405400-87443600	Weak transcription	NHLF	lung
7	chr8:87406000-87433000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr8:87406800-87437400	Weak transcription	HSMM	muscle
9	chr8:87409000-87435000	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr8:87409200-87440800	Weak transcription	Spleen	Spleen
11	chr8:87415200-87437400	Weak transcription	NHDF-Ad	bronchial
12	chr8:87416400-87443600	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr8:87418200-87440800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr8:87419400-87437800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:87422200-87432800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:87422200-87440800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:87422200-87441200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:87426000-87446400	Weak transcription	K562	blood
19	chr8:87426400-87438400	Weak transcription	Colon Smooth Muscle	Colon
20	chr8:87426800-87437200	Weak transcription	Hela-S3	cervix
21	chr8:87426800-87437600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:87426800-87437600	Weak transcription	NH-A	brain
23	chr8:87426800-87440800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:87427000-87437400	Weak transcription	HUVEC	blood vessel
25	chr8:87427200-87435200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:87427400-87437400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr8:87427400-87452600	Weak transcription	HSMMtube	muscle
28	chr8:87427600-87485600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:87428200-87443800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr8:87428600-87460800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr8:87429400-87437600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr8:87429400-87438600	Weak transcription	Left Ventricle	heart
33	chr8:87429400-87440800	Weak transcription	Aorta	Aorta
34	chr8:87429400-87441200	Weak transcription	Gastric	stomach
35	chr8:87429400-87443600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:87429400-87443600	Weak transcription	Small Intestine	intestine
37	chr8:87429400-87443800	Weak transcription	Brain Angular Gyrus	brain
38	chr8:87429400-87453600	Weak transcription	Stomach Mucosa	stomach
39	chr8:87429600-87433000	Strong transcription	Dnd41	blood
40	chr8:87429600-87438200	Weak transcription	Brain Anterior Caudate	brain
41	chr8:87429600-87440000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr8:87429600-87440800	Weak transcription	Pancreas	Pancrea
43	chr8:87429800-87437400	Weak transcription	Fetal Heart	heart
44	chr8:87429800-87443800	Weak transcription	Brain Hippocampus Middle	brain
45	chr8:87429800-87444000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:87430000-87440800	Weak transcription	Brain Substantia Nigra	brain
47	chr8:87430200-87440800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr8:87430400-87433000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
49	chr8:87430400-87433000	Strong transcription	Primary B cells from cord blood	blood
50	chr8:87430400-87435000	Strong transcription	Primary T cells fromperipheralblood	blood

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