Variant report

Variant	rs2280778
Chromosome Location	chr8:90961429-90961430
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90961129..90964552-chr8:90965641..90969617,4	K562	blood:
2	chr8:90959944..90961533-chr8:90994755..90996725,2	K562	blood:
3	chr8:90801163..90803261-chr8:90961126..90962760,2	MCF-7	breast:
4	chr8:90961019..90964644-chr8:90995252..90998339,3	MCF-7	breast:
5	chr8:90960549..90963013-chr8:91657884..91660323,2	K562	blood:
6	chr8:90961168..90963768-chr8:90966157..90968949,2	MCF-7	breast:
7	chr8:90913045..90914972-chr8:90961075..90963494,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246792	Chromatin interaction
ENSG00000164823	Chromatin interaction
ENSG00000104320	Chromatin interaction
ENSG00000207359	Chromatin interaction
ENSG00000180694	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10090863	1.00[CEU][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs10096580	0.84[EUR][1000 genomes]
rs10504885	1.00[CEU][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs12541412	1.00[CEU][hapmap]
rs12541460	1.00[CEU][hapmap]
rs13312969	1.00[CEU][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs13312970	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs16901369	1.00[CEU][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs16901430	1.00[CEU][hapmap]
rs16901433	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs16902897	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs1805825	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1805834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1805835	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1805861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1805872	1.00[CEU][hapmap]
rs1805873	1.00[TSI][hapmap]
rs1805875	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs1805884	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs1805905	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs2023554	1.00[CEU][hapmap]
rs28371401	0.84[EUR][1000 genomes]
rs28486026	0.84[EUR][1000 genomes]
rs3026278	0.80[YRI][hapmap]
rs3026296	1.00[CEU][hapmap]
rs3736640	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57266874	0.89[EUR][1000 genomes]
rs58321776	0.84[EUR][1000 genomes]
rs58573572	0.84[EUR][1000 genomes]
rs58922279	0.84[EUR][1000 genomes]
rs60259111	0.84[EUR][1000 genomes]
rs60938698	0.84[EUR][1000 genomes]
rs66854331	0.84[EUR][1000 genomes]
rs6985934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6996173	0.84[EUR][1000 genomes]
rs7005991	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs7006318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73304457	0.84[EUR][1000 genomes]
rs73304468	0.84[EUR][1000 genomes]
rs73304476	0.84[EUR][1000 genomes]
rs73304479	0.84[EUR][1000 genomes]
rs73304487	0.84[EUR][1000 genomes]
rs9297757	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs9656966	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs989385	1.00[CEU][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90915400-90966800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:90915800-90995000	Weak transcription	Fetal Brain Male	brain
3	chr8:90916600-90969600	Weak transcription	Brain Substantia Nigra	brain
4	chr8:90917600-90975400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr8:90924800-90986600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:90925400-90970200	Weak transcription	Pancreas	Pancrea
7	chr8:90925400-90979200	Weak transcription	Gastric	stomach
8	chr8:90925600-90961600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:90925600-90967200	Weak transcription	Colonic Mucosa	Colon
10	chr8:90925600-90975200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:90927000-90978000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr8:90927200-90964200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:90927600-90988400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr8:90927800-90963800	Weak transcription	NHEK	skin
15	chr8:90927800-90969800	Weak transcription	Esophagus	oesophagus
16	chr8:90927800-90970200	Weak transcription	Spleen	Spleen
17	chr8:90927800-90970400	Weak transcription	Right Ventricle	heart
18	chr8:90927800-90996000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:90928000-90965200	Weak transcription	Fetal Kidney	kidney
20	chr8:90928000-90970400	Weak transcription	Small Intestine	intestine
21	chr8:90929400-90966000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr8:90931600-90965200	Weak transcription	HepG2	liver
23	chr8:90934000-90965400	Weak transcription	Fetal Brain Female	brain
24	chr8:90937200-90969800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr8:90937200-90970400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:90937200-90970400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:90937600-90969400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr8:90937600-90970000	Weak transcription	Lung	lung
29	chr8:90938200-90974600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr8:90938400-90970000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:90938800-90963000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr8:90939000-90964800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr8:90941400-90970000	Weak transcription	Brain Germinal Matrix	brain
34	chr8:90942600-90977400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr8:90942600-90982600	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr8:90942800-90970000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:90944400-90977000	Strong transcription	Dnd41	blood
38	chr8:90944400-90982800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr8:90944600-90982000	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr8:90944800-90984400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:90947200-90964400	Weak transcription	HMEC	breast
42	chr8:90947200-90964600	Weak transcription	Brain Hippocampus Middle	brain
43	chr8:90947200-90969800	Weak transcription	Brain Angular Gyrus	brain
44	chr8:90947400-90965400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:90948200-90974000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr8:90952200-90970400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr8:90952600-90964200	Weak transcription	Left Ventricle	heart
48	chr8:90952600-90966400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr8:90952600-90966800	Weak transcription	Thymus	Thymus
50	chr8:90952800-90961800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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