Variant report

Variant	rs2168712
Chromosome Location	chr6:70478612-70478613
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:70478026..70480919-chr6:70492815..70495230,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1031631	0.81[AFR][1000 genomes]
rs1078026	0.84[AFR][1000 genomes]
rs11970363	0.91[AFR][1000 genomes]
rs12055543	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1542413	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1563606	0.86[AFR][1000 genomes]
rs1563608	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1563610	0.99[ASN][1000 genomes]
rs1840940	0.90[ASN][1000 genomes]
rs1840942	1.00[ASN][1000 genomes]
rs1902650	0.82[AFR][1000 genomes]
rs1902655	0.88[AFR][1000 genomes]
rs1993482	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2061310	0.81[AFR][1000 genomes]
rs2345564	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2445964	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2445973	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445974	1.00[ASN][1000 genomes]
rs2445976	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2494776	0.89[ASN][1000 genomes]
rs2502543	1.00[ASN][1000 genomes]
rs2502564	0.89[ASN][1000 genomes]
rs3752789	0.88[AFR][1000 genomes]
rs3778241	0.96[ASN][1000 genomes]
rs3799112	0.81[AFR][1000 genomes]
rs3799113	0.81[AFR][1000 genomes]
rs3806960	0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3947930	0.87[AFR][1000 genomes]
rs4707384	0.86[AFR][1000 genomes]
rs57913618	0.87[AFR][1000 genomes]
rs6455340	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6455342	0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6455344	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6905645	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6919766	0.81[AFR][1000 genomes]
rs6920725	0.89[AFR][1000 genomes]
rs6935590	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7742015	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7747908	0.81[ASN][1000 genomes]
rs7749324	0.90[AFR][1000 genomes]
rs7749509	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7758405	0.84[AFR][1000 genomes]
rs7763213	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7774371	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9185	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs921973	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs930886	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9342766	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9342768	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9346340	0.84[AFR][1000 genomes]
rs9346341	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9346342	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9346355	0.88[AFR][1000 genomes]
rs9354884	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70431400-70498600	Weak transcription	Ovary	ovary
2	chr6:70432000-70479800	Weak transcription	Pancreas	Pancrea
3	chr6:70432200-70480000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr6:70435800-70498800	Weak transcription	Adipose Nuclei	Adipose
5	chr6:70442400-70498200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:70442400-70498400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:70447800-70498400	Weak transcription	Placenta	Placenta
8	chr6:70448800-70489800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:70450800-70487600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr6:70453800-70505600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:70456400-70483000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:70456600-70491000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr6:70457200-70486800	Weak transcription	Thymus	Thymus
14	chr6:70457200-70489800	Weak transcription	Esophagus	oesophagus
15	chr6:70457200-70494800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:70457400-70485000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr6:70457400-70489800	Weak transcription	Dnd41	blood
18	chr6:70457600-70484600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr6:70457600-70487400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr6:70461800-70480600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr6:70463000-70492400	Weak transcription	Colon Smooth Muscle	Colon
22	chr6:70463800-70479800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:70466200-70479800	Weak transcription	Fetal Stomach	stomach
24	chr6:70466400-70487000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr6:70467000-70480000	Weak transcription	Primary T cells from cord blood	blood
26	chr6:70467200-70481000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr6:70468400-70484800	Weak transcription	Brain Anterior Caudate	brain
28	chr6:70468400-70485200	Weak transcription	HSMMtube	muscle
29	chr6:70469000-70479800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr6:70469000-70479800	Weak transcription	Small Intestine	intestine
31	chr6:70469000-70483000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr6:70469000-70483200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr6:70469000-70490600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr6:70469000-70492000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr6:70470400-70485000	Weak transcription	Brain Hippocampus Middle	brain
36	chr6:70470800-70485400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr6:70471000-70481000	Weak transcription	Left Ventricle	heart
38	chr6:70471000-70483000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr6:70471000-70495200	Weak transcription	Gastric	stomach
40	chr6:70471200-70491000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr6:70471800-70479800	Weak transcription	Fetal Muscle Leg	muscle
42	chr6:70471800-70479800	Weak transcription	Lung	lung
43	chr6:70472600-70490400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr6:70472600-70491800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr6:70472800-70480800	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr6:70472800-70481000	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr6:70472800-70485600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr6:70472800-70486400	Weak transcription	Fetal Thymus	thymus
49	chr6:70473000-70499000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr6:70473800-70478800	Weak transcription	GM12878-XiMat	blood

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