Variant report

Variant	rs60707722
Chromosome Location	chr4:47454041-47454042
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10010080	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10012665	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10013564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10016116	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10016711	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10017635	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10020234	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10020578	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10023931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10024088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10025348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10028747	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10031409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10032089	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs28401446	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28419082	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs28420192	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs28437469	0.96[AFR][1000 genomes]
rs28463624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28589311	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28657923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28687404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4408937	0.95[AFR][1000 genomes]
rs55734368	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs56318530	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs57637672	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs57663033	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs58111381	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs58467459	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs58773051	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60201780	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs60226159	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs60744249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60950802	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs60981397	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs61111807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6812797	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6849185	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73813534	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73813544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73813545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73813546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7656397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7660975	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7664395	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7664827	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7665847	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7669793	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7681754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7682167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7686306	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7695644	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs9990574	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs9995173	0.85[AFR][1000 genomes];1.00[AMR][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	nsv998919	chr4:47207023-47476876	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv879005	chr4:47408838-47548254	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv829923	chr4:47436139-47678443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47436800-47465000	Weak transcription	Gastric	stomach
2	chr4:47438600-47464200	Weak transcription	Small Intestine	intestine
3	chr4:47441000-47456000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr4:47442200-47464000	Weak transcription	Left Ventricle	heart
5	chr4:47443600-47464000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:47445000-47454800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:47445200-47454600	Weak transcription	Fetal Intestine Small	intestine
8	chr4:47445400-47465000	Weak transcription	Lung	lung
9	chr4:47445600-47454600	Weak transcription	Ovary	ovary
10	chr4:47445600-47464000	Weak transcription	Pancreas	Pancrea
11	chr4:47445600-47464200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr4:47445600-47464200	Weak transcription	Thymus	Thymus
13	chr4:47445800-47465000	Weak transcription	Aorta	Aorta
14	chr4:47446000-47465000	Weak transcription	Esophagus	oesophagus
15	chr4:47446600-47463000	Weak transcription	Brain Anterior Caudate	brain
16	chr4:47447000-47461400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr4:47449200-47455000	Weak transcription	Fetal Brain Female	brain
18	chr4:47449600-47464200	Weak transcription	Fetal Brain Male	brain
19	chr4:47449800-47465000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr4:47450000-47454800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:47450600-47464400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr4:47450600-47464600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr4:47450600-47464800	Weak transcription	Colonic Mucosa	Colon
24	chr4:47450600-47464800	Weak transcription	A549	lung
25	chr4:47450800-47456000	Weak transcription	NHEK	skin
26	chr4:47450800-47463600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr4:47451000-47457200	Strong transcription	Primary T cells from cord blood	blood
28	chr4:47451000-47460800	Weak transcription	HMEC	breast
29	chr4:47451000-47464400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr4:47451400-47456400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr4:47451400-47458800	Strong transcription	Osteobl	bone
32	chr4:47451400-47462400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr4:47451400-47464000	Weak transcription	Colon Smooth Muscle	Colon
34	chr4:47451800-47456200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:47451800-47456400	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr4:47451800-47458200	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr4:47451800-47458200	Strong transcription	Dnd41	blood
38	chr4:47451800-47461800	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr4:47451800-47462200	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr4:47451800-47464600	Weak transcription	Hela-S3	cervix
41	chr4:47452000-47454200	Strong transcription	Duodenum Mucosa	Duodenum
42	chr4:47452000-47454200	Strong transcription	Stomach Smooth Muscle	stomach
43	chr4:47452000-47454600	Enhancers	Fetal Heart	heart
44	chr4:47452000-47455600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:47452000-47456400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:47452000-47456600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:47452000-47456600	Strong transcription	Primary B cells from peripheral blood	blood
48	chr4:47452000-47456600	Strong transcription	Primary hematopoietic stem cells	blood
49	chr4:47452000-47456600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr4:47452000-47456600	Strong transcription	Placenta	Placenta

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