Variant report

Variant	rs73276439
Chromosome Location	chr8:96035892-96035893
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96035833..96037489-chr8:96059135..96061136,2	MCF-7	breast:
2	chr8:96035216..96038805-chr8:96144544..96148215,5	MCF-7	breast:
3	chr8:96035638..96037575-chr8:96142596..96146380,3	K562	blood:
4	chr8:96033821..96037970-chr8:96145284..96149341,6	MCF-7	breast:
5	chr8:95958601..95962411-chr8:96033992..96036562,4	MCF-7	breast:
6	chr8:95956652..95964127-chr8:96035798..96039465,14	MCF-7	breast:
7	chr8:95906870..95908993-chr8:96035106..96036668,2	K562	blood:
8	chr8:95906811..95909706-chr8:96035495..96039299,4	K562	blood:
9	chr8:96028191..96030864-chr8:96035200..96037121,2	K562	blood:
10	chr8:95906302..95910709-chr8:96035472..96039639,10	MCF-7	breast:
11	chr8:95905055..95911257-chr8:96032486..96039313,18	MCF-7	breast:
12	chr8:96031972..96033668-chr8:96035592..96037179,2	MCF-7	breast:
13	chr8:96033508..96040236-chr8:96084539..96089897,8	MCF-7	breast:
14	chr8:95900013..95901627-chr8:96034414..96036253,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000175305	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000164938	Chromatin interaction
ENSG00000253878	Chromatin interaction
ENSG00000175895	Chromatin interaction
ENSG00000245080	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10086541	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10092003	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10093594	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10096455	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10097930	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10098197	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10098453	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10100089	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10103841	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10105437	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10106491	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10110635	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10111154	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10111300	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10112230	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10113545	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1031388	1.00[ASN][1000 genomes]
rs11774085	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11776189	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11779506	0.93[ASN][1000 genomes]
rs11780931	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781001	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781040	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781619	0.88[EUR][1000 genomes]
rs11784178	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11786380	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11786878	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13279040	0.87[ASN][1000 genomes]
rs1545480	0.93[ASN][1000 genomes]
rs16917224	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16917233	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2340536	0.88[EUR][1000 genomes]
rs2599711	0.93[ASN][1000 genomes]
rs2599713	1.00[ASN][1000 genomes]
rs2599714	1.00[ASN][1000 genomes]
rs2599715	1.00[ASN][1000 genomes]
rs2678823	1.00[ASN][1000 genomes]
rs2678829	0.93[ASN][1000 genomes]
rs28363725	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28378156	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28406132	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28419772	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28440026	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28477467	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28496357	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28616734	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28651964	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28712702	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34700722	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35518242	0.87[ASN][1000 genomes]
rs4323442	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56901035	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57925408	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61596977	0.87[EUR][1000 genomes]
rs6471505	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6471506	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6651271	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6651272	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985880	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6989862	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7002940	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7008542	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71532343	0.87[ASN][1000 genomes]
rs73276406	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73276417	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73276437	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73276444	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812312	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7818688	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7826046	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7826196	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7832570	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7842703	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7842715	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9297950	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9297951	0.96[EUR][1000 genomes];1.00[ASN][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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96009000-96036400	Weak transcription	Spleen	Spleen
2	chr8:96023400-96036600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:96024800-96036400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:96026800-96036400	Weak transcription	HMEC	breast
5	chr8:96029600-96036400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:96029800-96036600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:96032600-96036600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:96032800-96036400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr8:96032800-96036400	Weak transcription	GM12878-XiMat	blood
10	chr8:96032800-96036600	Weak transcription	Right Ventricle	heart
11	chr8:96033000-96036200	Weak transcription	Primary B cells from cord blood	blood
12	chr8:96033000-96036200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:96033000-96036200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr8:96033000-96036400	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr8:96033000-96036400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr8:96033000-96036400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr8:96033000-96036400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:96033000-96036400	Weak transcription	Fetal Thymus	thymus
19	chr8:96033000-96036400	Weak transcription	Lung	lung
20	chr8:96033000-96036600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:96033000-96036600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:96033000-96036600	Weak transcription	Esophagus	oesophagus
23	chr8:96033000-96036600	Weak transcription	Gastric	stomach
24	chr8:96033200-96036200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:96033200-96036200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr8:96033200-96036400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr8:96033200-96036400	Weak transcription	Colon Smooth Muscle	Colon
28	chr8:96033200-96036400	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr8:96033200-96036600	Weak transcription	Right Atrium	heart
30	chr8:96033400-96036400	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr8:96033400-96036400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr8:96033400-96036400	Weak transcription	Stomach Mucosa	stomach
33	chr8:96033600-96036600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:96033600-96036600	Weak transcription	Psoas Muscle	Psoas
35	chr8:96033800-96036400	Weak transcription	Adipose Nuclei	Adipose
36	chr8:96034000-96036400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:96034000-96036400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:96034200-96036400	Weak transcription	A549	lung
39	chr8:96034200-96036600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr8:96034200-96036600	Weak transcription	Left Ventricle	heart
41	chr8:96034400-96036400	Weak transcription	Liver	Liver
42	chr8:96034600-96036200	Weak transcription	HepG2	liver
43	chr8:96035600-96036600	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr8:96035800-96036200	Weak transcription	Pancreas	Pancrea
45	chr8:96035800-96036600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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