Variant report

Variant	rs7750707
Chromosome Location	chr6:70443099-70443100
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:70442443..70443297-chr6:70577923..70578629,3	MCF-7	breast:
2	chr6:70442247..70443134-chr6:70545229..70546162,3	MCF-7	breast:
3	chr6:70442429..70443149-chr6:70876304..70876912,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs11962504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11964740	0.81[AFR][1000 genomes]
rs11965589	1.00[ASN][1000 genomes]
rs11966214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11966540	1.00[ASN][1000 genomes]
rs11967076	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11967207	0.81[AFR][1000 genomes]
rs11967736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11968161	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11969223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11969244	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11970647	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];1.00[ASN][1000 genomes]
rs12111306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1379454	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1457495	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1457496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1563611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.96[ASN][1000 genomes]
rs16867900	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16868135	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1902651	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1902652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1902653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2445961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445965	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445969	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502556	1.00[ASN][1000 genomes]
rs2502557	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502565	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2502566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502567	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3214020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778243	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3799097	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3928194	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4457128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55823739	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56310174	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57751010	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58614233	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59256218	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59573217	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59727335	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60078953	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61572016	1.00[ASN][1000 genomes]
rs6903952	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6912049	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920889	0.83[YRI][hapmap]
rs6922658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6924226	0.96[ASN][1000 genomes]
rs6924743	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6934740	1.00[ASN][1000 genomes]
rs73469943	1.00[ASN][1000 genomes]
rs73481734	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73481772	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73485519	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73485522	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73485538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73485542	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73485549	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73486009	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73486032	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73745767	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7740306	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7747688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7751578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7758646	0.81[AFR][1000 genomes]
rs7763293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7763931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs980587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs991973	1.00[CEU][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs991974	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[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	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

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70380600-70455600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr6:70380800-70467800	Weak transcription	K562	blood
3	chr6:70404200-70447400	Weak transcription	Hela-S3	cervix
4	chr6:70405000-70468400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr6:70405600-70446400	Weak transcription	HepG2	liver
6	chr6:70406600-70449400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:70406600-70457400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:70417400-70455600	Weak transcription	Fetal Kidney	kidney
9	chr6:70418600-70455800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:70423200-70443400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr6:70426200-70455800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr6:70429000-70444400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr6:70429000-70446000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr6:70429000-70455600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:70429000-70462400	Weak transcription	Colon Smooth Muscle	Colon
16	chr6:70429000-70467600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr6:70431400-70498600	Weak transcription	Ovary	ovary
18	chr6:70431600-70456000	Weak transcription	Brain Hippocampus Middle	brain
19	chr6:70431800-70447000	Weak transcription	Placenta	Placenta
20	chr6:70431800-70450000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr6:70431800-70455800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:70431800-70456200	Weak transcription	Thymus	Thymus
23	chr6:70432000-70445000	Weak transcription	Lung	lung
24	chr6:70432000-70445800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:70432000-70447800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr6:70432000-70447800	Weak transcription	Fetal Thymus	thymus
27	chr6:70432000-70455600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr6:70432000-70455800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr6:70432000-70455800	Weak transcription	Fetal Intestine Small	intestine
30	chr6:70432000-70456000	Weak transcription	Esophagus	oesophagus
31	chr6:70432000-70456200	Weak transcription	Aorta	Aorta
32	chr6:70432000-70468200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr6:70432000-70470400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr6:70432000-70470400	Weak transcription	Gastric	stomach
35	chr6:70432000-70479800	Weak transcription	Pancreas	Pancrea
36	chr6:70432200-70444000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr6:70432200-70444800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr6:70432200-70445800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:70432200-70446800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr6:70432200-70447000	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr6:70432200-70450200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr6:70432200-70480000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr6:70432600-70461600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr6:70432800-70445600	Weak transcription	Dnd41	blood
45	chr6:70432800-70446000	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr6:70435600-70445600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr6:70435600-70448000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr6:70435800-70444400	Weak transcription	Psoas Muscle	Psoas
49	chr6:70435800-70447400	Weak transcription	HSMMtube	muscle
50	chr6:70435800-70455800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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