Variant report

Variant	rs60542095
Chromosome Location	chr3:143551591-143551592
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11917171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11921390	1.00[AMR][1000 genomes]
rs11928979	1.00[AMR][1000 genomes]
rs56865417	1.00[AMR][1000 genomes]
rs57368166	1.00[AMR][1000 genomes]
rs60336255	1.00[AMR][1000 genomes]
rs60513603	1.00[AMR][1000 genomes]
rs60777016	1.00[AMR][1000 genomes]
rs60831305	1.00[AMR][1000 genomes]
rs6771320	1.00[AMR][1000 genomes]
rs6794428	1.00[AMR][1000 genomes]
rs72995499	1.00[AMR][1000 genomes]
rs72997303	1.00[AMR][1000 genomes]
rs72997304	1.00[AMR][1000 genomes]
rs73002692	1.00[AMR][1000 genomes]
rs73010561	1.00[AMR][1000 genomes]
rs73010568	1.00[AMR][1000 genomes]
rs73010581	1.00[AMR][1000 genomes]
rs73010585	1.00[AMR][1000 genomes]
rs73010586	1.00[AMR][1000 genomes]
rs73012606	1.00[AMR][1000 genomes]
rs7615162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7615541	1.00[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	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	esv3418674	chr3:143457005-143558357	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1009935	chr3:143497700-143610852	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143539800-143558200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:143541000-143554200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr3:143541400-143565200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr3:143542000-143553600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr3:143542200-143552400	Weak transcription	Brain Angular Gyrus	brain
6	chr3:143542200-143553600	Weak transcription	Brain Hippocampus Middle	brain
7	chr3:143544200-143552800	Weak transcription	Fetal Lung	lung
8	chr3:143545400-143558800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr3:143545600-143565400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr3:143546000-143559000	Weak transcription	Primary B cells from cord blood	blood
11	chr3:143547000-143558200	Weak transcription	Esophagus	oesophagus
12	chr3:143548800-143551600	Enhancers	Stomach Mucosa	stomach
13	chr3:143548800-143551600	Enhancers	NHLF	lung
14	chr3:143548800-143551800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:143548800-143551800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:143549000-143551800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr3:143549000-143551800	Enhancers	HMEC	breast
18	chr3:143549000-143552800	Enhancers	Colon Smooth Muscle	Colon
19	chr3:143549200-143565200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:143549400-143552400	Weak transcription	Aorta	Aorta
21	chr3:143549400-143565000	Weak transcription	Primary T cells from cord blood	blood
22	chr3:143549800-143551800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:143549800-143551800	Enhancers	Brain Substantia Nigra	brain
24	chr3:143549800-143552000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr3:143550000-143551800	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr3:143550000-143552000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr3:143550000-143558200	Weak transcription	Right Atrium	heart
28	chr3:143550000-143565200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr3:143550200-143558800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr3:143550400-143551800	Enhancers	NHDF-Ad	bronchial
31	chr3:143550400-143551800	Enhancers	NHEK	skin
32	chr3:143550400-143552400	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr3:143550400-143552400	Weak transcription	Ovary	ovary
34	chr3:143550600-143551600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:143550600-143551800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:143550600-143551800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:143550600-143553400	Weak transcription	Brain Anterior Caudate	brain
38	chr3:143550600-143555000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr3:143550600-143555000	Weak transcription	HSMMtube	muscle
40	chr3:143550600-143558000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr3:143550800-143554000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr3:143551000-143551600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr3:143551000-143551800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:143551000-143551800	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr3:143551200-143551600	Enhancers	Small Intestine	intestine
46	chr3:143551200-143551600	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr3:143551200-143551800	Flanking Active TSS	GM12878-XiMat	blood
48	chr3:143551200-143558000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr3:143551400-143551600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr3:143551400-143555000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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