Variant report

Variant	rs7011111
Chromosome Location	chr8:64120966-64120967
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:64115234..64118106-chr8:64120478..64122032,2	K562	blood:
2	chr8:64119199..64121386-chr9:22867154..22869791,2	MCF-7	breast:
3	chr8:64118944..64121545-chr8:64130698..64132420,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10957275	0.82[EUR][1000 genomes]
rs12542182	0.82[EUR][1000 genomes]
rs12542741	0.80[EUR][1000 genomes]
rs12547669	0.80[EUR][1000 genomes]
rs12549833	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12550222	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12550793	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12677153	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12678231	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2241753	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34803356	0.80[EUR][1000 genomes]
rs3857972	0.82[EUR][1000 genomes]
rs3929126	0.82[EUR][1000 genomes]
rs4601308	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4737633	0.87[EUR][1000 genomes]
rs4739053	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4739066	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4739068	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61223024	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6983011	0.82[EUR][1000 genomes]
rs7000495	0.82[EUR][1000 genomes]
rs7000788	0.82[EUR][1000 genomes]
rs7000927	0.82[EUR][1000 genomes]
rs7001014	0.82[EUR][1000 genomes]
rs73254967	0.82[EUR][1000 genomes]
rs73254968	0.82[EUR][1000 genomes]
rs73684686	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73684689	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73686707	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73686709	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9643383	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9643384	0.82[EUR][1000 genomes]
rs9643556	0.82[EUR][1000 genomes]
rs9643557	0.82[EUR][1000 genomes]
rs9643558	0.82[EUR][1000 genomes]
rs9643559	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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	nsv831342	chr8:64084331-64294941	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv890967	chr8:64107847-64454446	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:64100600-64122200	Weak transcription	Fetal Kidney	kidney
2	chr8:64100600-64127000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:64101600-64128000	Weak transcription	Colonic Mucosa	Colon
4	chr8:64101600-64136000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:64103400-64127400	Weak transcription	Thymus	Thymus
6	chr8:64103600-64121400	Weak transcription	Fetal Thymus	thymus
7	chr8:64103600-64122200	Weak transcription	Placenta	Placenta
8	chr8:64103600-64129800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:64104400-64124800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:64105200-64122400	Weak transcription	NHDF-Ad	bronchial
11	chr8:64105400-64122200	Weak transcription	K562	blood
12	chr8:64105800-64122200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:64107000-64127200	Weak transcription	Fetal Muscle Leg	muscle
14	chr8:64107000-64132000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:64108600-64122400	Weak transcription	HMEC	breast
16	chr8:64108600-64132000	Weak transcription	Lung	lung
17	chr8:64108600-64134000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:64108800-64122200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:64109000-64132000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:64112800-64122200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr8:64112800-64122400	Weak transcription	HepG2	liver
22	chr8:64113000-64121000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:64113200-64122400	Weak transcription	Fetal Intestine Large	intestine
24	chr8:64113200-64125800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr8:64113200-64132600	Weak transcription	Aorta	Aorta
26	chr8:64113600-64122200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr8:64113600-64132600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:64113800-64122200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:64113800-64127200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:64113800-64131800	Weak transcription	Hela-S3	cervix
31	chr8:64114000-64130800	Weak transcription	NHEK	skin
32	chr8:64114200-64122200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr8:64114600-64121400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:64114600-64122200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr8:64114600-64122400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:64114600-64129200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr8:64114600-64131400	Weak transcription	HSMMtube	muscle
38	chr8:64115000-64129000	Weak transcription	Fetal Heart	heart
39	chr8:64115400-64122400	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr8:64115600-64121600	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr8:64116800-64122000	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr8:64117800-64122000	Weak transcription	NH-A	brain
43	chr8:64117800-64122000	Weak transcription	Osteobl	bone
44	chr8:64117800-64122200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr8:64117800-64122200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr8:64117800-64122200	Weak transcription	GM12878-XiMat	blood
47	chr8:64117800-64131800	Weak transcription	NHLF	lung
48	chr8:64117800-64133200	Weak transcription	Fetal Stomach	stomach
49	chr8:64118000-64121200	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr8:64118000-64121800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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