Variant report

Variant	rs2288875
Chromosome Location	chr8:96076365-96076366
allele	A/G
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	chr8:96076049..96080036-chr8:96278718..96282595,5	MCF-7	breast:
2	chr8:96075113..96084115-chr8:96121900..96127897,13	MCF-7	breast:
3	chr8:96073668..96076397-chr8:96204920..96206874,2	MCF-7	breast:
4	chr8:96075084..96077538-chr8:96085008..96088680,3	K562	blood:
5	chr8:96072280..96082057-chr8:96143406..96150431,26	MCF-7	breast:
6	chr8:96075220..96081525-chr8:96145144..96151005,16	MCF-7	breast:
7	chr8:96038983..96041766-chr8:96074562..96076665,3	MCF-7	breast:
8	chr8:96035307..96037631-chr8:96076077..96079417,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000245080	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000253773	Chromatin interaction
ENSG00000175895	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1051008	0.86[ASN][1000 genomes]
rs11466349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16959007	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16975124	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16975156	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16975164	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1968453	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2217656	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3810173	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61247776	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs747857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9304592	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs998468	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv891205	chr8:96062601-96115476	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96038200-96080000	Weak transcription	Colonic Mucosa	Colon
2	chr8:96038400-96085200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:96062000-96078400	Weak transcription	Small Intestine	intestine
4	chr8:96062000-96083800	Weak transcription	Fetal Brain Male	brain
5	chr8:96062600-96079000	Weak transcription	NHLF	lung
6	chr8:96062600-96079800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr8:96062800-96079200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:96062800-96079800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr8:96062800-96080200	Weak transcription	Brain Angular Gyrus	brain
10	chr8:96063200-96078800	Weak transcription	HSMM	muscle
11	chr8:96063200-96078800	Weak transcription	NH-A	brain
12	chr8:96063800-96080400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:96063800-96081400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr8:96064000-96079800	Weak transcription	Brain Substantia Nigra	brain
15	chr8:96064400-96078800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr8:96064600-96080200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr8:96064800-96079800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:96065200-96078600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr8:96068800-96082200	Weak transcription	Fetal Brain Female	brain
20	chr8:96070400-96078400	Weak transcription	HUVEC	blood vessel
21	chr8:96070600-96076800	Weak transcription	Gastric	stomach
22	chr8:96070600-96077000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:96070600-96078800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr8:96070600-96079800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:96070600-96079800	Weak transcription	Brain Hippocampus Middle	brain
26	chr8:96070600-96079800	Weak transcription	Esophagus	oesophagus
27	chr8:96070600-96079800	Weak transcription	Spleen	Spleen
28	chr8:96071000-96079200	Weak transcription	Colon Smooth Muscle	Colon
29	chr8:96071000-96080000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:96071000-96080000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:96071200-96076600	Weak transcription	Liver	Liver
32	chr8:96071200-96078400	Weak transcription	Aorta	Aorta
33	chr8:96071200-96078800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr8:96071200-96079600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr8:96071200-96079800	Weak transcription	Brain Anterior Caudate	brain
36	chr8:96071200-96079800	Weak transcription	Right Ventricle	heart
37	chr8:96071200-96080600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr8:96071200-96084600	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr8:96071200-96085000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:96071400-96079600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:96071400-96079800	Weak transcription	Lung	lung
42	chr8:96071600-96076800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr8:96071600-96076800	Weak transcription	Fetal Intestine Small	intestine
44	chr8:96071600-96078800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:96071600-96078800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:96071600-96078800	Weak transcription	A549	lung
47	chr8:96071600-96079800	Weak transcription	Fetal Thymus	thymus
48	chr8:96071600-96081200	Weak transcription	Brain Germinal Matrix	brain
49	chr8:96071600-96083000	Weak transcription	Primary B cells from cord blood	blood
50	chr8:96071600-96084200	Weak transcription	GM12878-XiMat	blood

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