Variant report

Variant	rs6986947
Chromosome Location	chr8:67028077-67028078
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67023862..67029462-chr8:67339600..67346087,12	MCF-7	breast:
2	chr8:67026046..67028476-chr8:67029113..67032451,3	MCF-7	breast:
3	chr17:57861110..57863333-chr8:67026125..67028213,3	MCF-7	breast:
4	chr8:66939552..66941809-chr8:67025937..67028911,2	K562	blood:
5	chr8:66987458..66989475-chr8:67026400..67028470,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147576	Chromatin interaction
ENSG00000267637	Chromatin interaction
ENSG00000246145	Chromatin interaction
ENSG00000179041	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10096789	0.95[EUR][1000 genomes]
rs10098823	1.00[CEU][hapmap]
rs10099957	0.83[GIH][hapmap]
rs10104916	0.83[GIH][hapmap]
rs10109602	0.83[GIH][hapmap]
rs11779150	1.00[CEU][hapmap]
rs12156080	1.00[CEU][hapmap]
rs13439818	0.90[EUR][1000 genomes]
rs16932564	0.83[GIH][hapmap]
rs3176921	0.83[GIH][hapmap]
rs34083382	0.92[EUR][1000 genomes]
rs55640054	1.00[EUR][1000 genomes]
rs55691225	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55745275	0.95[EUR][1000 genomes]
rs56163324	1.00[EUR][1000 genomes]
rs56176008	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57390453	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61738600	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6472244	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6472245	0.83[GIH][hapmap]
rs6982394	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6983227	1.00[EUR][1000 genomes]
rs6990486	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6992031	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6992434	1.00[EUR][1000 genomes]
rs6998258	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.92[EUR][1000 genomes]
rs6998761	0.83[GIH][hapmap]
rs6999780	0.83[GIH][hapmap]
rs7005882	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7006209	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7006394	0.83[GIH][hapmap]
rs7006903	0.83[GIH][hapmap]
rs7010547	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7013524	0.83[GIH][hapmap]
rs73236728	0.90[EUR][1000 genomes]
rs749328	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7813194	0.95[EUR][1000 genomes]
rs7813201	0.95[EUR][1000 genomes]
rs7820617	0.83[GIH][hapmap]
rs7822243	0.83[GIH][hapmap]
rs7831234	0.83[GIH][hapmap]
rs7838582	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7839635	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs7842761	0.83[GIH][hapmap]
rs7843038	0.83[GIH][hapmap]
rs7843436	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7845017	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs884325	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs959302	0.95[EUR][1000 genomes]
rs9694082	0.83[GIH][hapmap]

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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67026200-67032600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:67027000-67030600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr8:67027200-67028400	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr8:67027200-67028400	Flanking Active TSS	A549	lung
5	chr8:67027200-67028800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr8:67027200-67029200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:67027200-67029800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr8:67027200-67030600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr8:67027200-67030600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr8:67027200-67030600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:67027200-67030600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:67027200-67030600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr8:67027200-67030800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr8:67027200-67031000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr8:67027200-67031000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr8:67027200-67031400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:67027200-67031600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr8:67027200-67032200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:67027200-67032200	Weak transcription	Left Ventricle	heart
20	chr8:67027200-67035800	Weak transcription	Psoas Muscle	Psoas
21	chr8:67027200-67036200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:67027200-67036200	Weak transcription	Right Ventricle	heart
23	chr8:67027400-67028200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr8:67027400-67028200	Enhancers	Fetal Heart	heart
25	chr8:67027400-67028200	Enhancers	NHDF-Ad	bronchial
26	chr8:67027400-67031000	Weak transcription	HSMMtube	muscle
27	chr8:67027400-67032200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:67027400-67032600	Weak transcription	Hela-S3	cervix
29	chr8:67027400-67035600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:67027600-67028200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:67027600-67028200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:67027600-67028200	Enhancers	GM12878-XiMat	blood
33	chr8:67027600-67028200	Enhancers	HMEC	breast
34	chr8:67027600-67028400	Enhancers	NHLF	lung
35	chr8:67027600-67029400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:67027600-67030600	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr8:67027600-67032400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:67027800-67028200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:67027800-67032200	Weak transcription	NH-A	brain
40	chr8:67027800-67033800	Weak transcription	Fetal Muscle Leg	muscle
41	chr8:67027800-67036400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr8:67028000-67028200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr8:67028000-67028200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr8:67028000-67028200	Enhancers	Liver	Liver
45	chr8:67028000-67028200	Enhancers	K562	blood
46	chr8:67028000-67029000	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr8:67028000-67029400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:67028000-67030600	Weak transcription	Primary T cells from cord blood	blood
49	chr8:67028000-67030600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr8:67028000-67030600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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