Variant report

Variant	rs60078953
Chromosome Location	chr6:70432543-70432544
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs11962504	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11964740	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11965589	1.00[ASN][1000 genomes]
rs11966214	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11966540	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11967076	1.00[ASN][1000 genomes]
rs11967207	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11967736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11968161	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11969223	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11969244	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11970647	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12111306	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1379454	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1457495	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1457496	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1563611	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16867900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16868135	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1902651	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1902652	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1902653	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445961	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445969	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502556	1.00[ASN][1000 genomes]
rs2502557	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502565	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2502566	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502568	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3214020	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778243	0.89[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3799097	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3928194	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4457128	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55823739	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56310174	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57751010	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58614233	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59256218	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59573217	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59727335	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61572016	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6903952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6912049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6922658	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6924226	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6924743	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6934740	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73469943	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73481734	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73481772	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73485519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73485522	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73485538	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73485542	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73485549	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73486009	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73486032	0.89[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73745767	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7740306	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7747688	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7750707	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7751578	1.00[ASN][1000 genomes]
rs7758646	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7763293	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7763931	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs980587	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs991973	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs991974	0.91[AFR][1000 genomes];0.84[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	nsv886140	chr6:70354682-70728202	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv830682	chr6:70397851-70592883	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	esv999346	chr6:70428857-70442646	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70378800-70435200	Weak transcription	Psoas Muscle	Psoas
2	chr6:70379000-70435400	Weak transcription	Fetal Brain Male	brain
3	chr6:70380600-70455600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr6:70380800-70467800	Weak transcription	K562	blood
5	chr6:70382200-70435400	Weak transcription	Brain Angular Gyrus	brain
6	chr6:70397800-70439000	Weak transcription	Fetal Heart	heart
7	chr6:70402200-70435200	Weak transcription	Brain Anterior Caudate	brain
8	chr6:70404200-70447400	Weak transcription	Hela-S3	cervix
9	chr6:70404600-70433800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr6:70405000-70468400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:70405400-70434600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:70405600-70446400	Weak transcription	HepG2	liver
13	chr6:70406000-70433600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:70406200-70438400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:70406600-70449400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:70406600-70457400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:70408400-70434400	Weak transcription	Brain Germinal Matrix	brain
18	chr6:70410000-70435400	Weak transcription	Brain Substantia Nigra	brain
19	chr6:70413000-70435600	Weak transcription	HSMMtube	muscle
20	chr6:70414200-70433000	Weak transcription	Right Ventricle	heart
21	chr6:70417400-70455600	Weak transcription	Fetal Kidney	kidney
22	chr6:70418600-70455800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:70421800-70434800	Strong transcription	Primary B cells from cord blood	blood
24	chr6:70423200-70443400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr6:70424400-70441800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr6:70426200-70432800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:70426200-70433400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr6:70426200-70455800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr6:70429000-70433200	Weak transcription	Colonic Mucosa	Colon
30	chr6:70429000-70444400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr6:70429000-70446000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr6:70429000-70455600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:70429000-70462400	Weak transcription	Colon Smooth Muscle	Colon
34	chr6:70429000-70467600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr6:70429200-70435400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr6:70429200-70442800	Weak transcription	GM12878-XiMat	blood
37	chr6:70429600-70435400	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr6:70430200-70433000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:70430600-70433000	Strong transcription	Primary B cells from peripheral blood	blood
40	chr6:70430600-70433600	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr6:70430800-70432600	Strong transcription	Adipose Nuclei	Adipose
42	chr6:70430800-70432800	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr6:70430800-70433200	Strong transcription	Liver	Liver
44	chr6:70431000-70432600	Strong transcription	Fetal Lung	lung
45	chr6:70431000-70432600	Strong transcription	Rectal Smooth Muscle	rectum
46	chr6:70431000-70432800	Strong transcription	Primary hematopoietic stem cells	blood
47	chr6:70431000-70432800	Strong transcription	Dnd41	blood
48	chr6:70431400-70432600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:70431400-70498600	Weak transcription	Ovary	ovary
50	chr6:70431600-70456000	Weak transcription	Brain Hippocampus Middle	brain

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