Variant report

Variant	rs72888676
Chromosome Location	chr3:61573050-61573051
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs4390920	1.00[AMR][1000 genomes]
rs56696131	1.00[AMR][1000 genomes]
rs57796687	1.00[AMR][1000 genomes]
rs57943064	1.00[AMR][1000 genomes]
rs57953857	1.00[AMR][1000 genomes]
rs58814661	1.00[AMR][1000 genomes]
rs60197600	1.00[AMR][1000 genomes]
rs60197976	1.00[AMR][1000 genomes]
rs60473152	1.00[AMR][1000 genomes]
rs6801604	1.00[AMR][1000 genomes]
rs6805288	1.00[AMR][1000 genomes]
rs72874738	1.00[AMR][1000 genomes]
rs72874741	1.00[AMR][1000 genomes]
rs72874744	1.00[AMR][1000 genomes]
rs72874746	1.00[AMR][1000 genomes]
rs72874749	1.00[AMR][1000 genomes]
rs72874755	1.00[AMR][1000 genomes]
rs72888670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72888675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72888678	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7640772	1.00[AMR][1000 genomes]
rs9878929	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432423	chr3:61100255-61606060	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv834711	chr3:61413762-61612539	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1008615	chr3:61455419-61679037	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	esv2756995	chr3:61569557-61636156	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	esv2759153	chr3:61569557-61636156	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	esv35004	chr3:61570149-61626426	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:61550800-61574200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr3:61558400-61579800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:61560600-61575200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:61560800-61575200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr3:61562400-61575200	Weak transcription	HSMM	muscle
6	chr3:61562400-61578600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr3:61564600-61575400	Weak transcription	HUVEC	blood vessel
8	chr3:61564600-61593400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr3:61564800-61577000	Weak transcription	Fetal Intestine Large	intestine
10	chr3:61565000-61579800	Weak transcription	Adipose Nuclei	Adipose
11	chr3:61565200-61588800	Weak transcription	Fetal Intestine Small	intestine
12	chr3:61565600-61575200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:61566800-61576800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:61567000-61574200	Weak transcription	Fetal Stomach	stomach
15	chr3:61567000-61577000	Weak transcription	Aorta	Aorta
16	chr3:61567200-61573400	Weak transcription	Fetal Muscle Leg	muscle
17	chr3:61567200-61573600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:61567200-61573800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr3:61567200-61574400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:61567200-61574800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr3:61567200-61575200	Weak transcription	HSMMtube	muscle
22	chr3:61567200-61575400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:61567200-61578800	Weak transcription	Brain Anterior Caudate	brain
24	chr3:61567200-61579800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr3:61567200-61580800	Weak transcription	Fetal Kidney	kidney
26	chr3:61569000-61575200	Weak transcription	Lung	lung
27	chr3:61569400-61574200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:61569400-61575200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr3:61569600-61575200	Weak transcription	Esophagus	oesophagus
30	chr3:61569600-61575400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr3:61569600-61578800	Weak transcription	HMEC	breast
32	chr3:61569600-61594400	Weak transcription	Pancreas	Pancrea
33	chr3:61569800-61574000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:61569800-61575200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:61569800-61575200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:61570000-61574200	Weak transcription	Fetal Heart	heart
37	chr3:61570200-61579800	Weak transcription	Liver	Liver
38	chr3:61570200-61580000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr3:61570200-61580200	Weak transcription	NHEK	skin
40	chr3:61570400-61575600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:61570400-61577200	Weak transcription	Fetal Lung	lung
42	chr3:61570600-61574400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:61570600-61575200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:61570600-61575200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:61570600-61575400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:61570600-61578600	Weak transcription	Colon Smooth Muscle	Colon
47	chr3:61570600-61579800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr3:61571800-61575400	Weak transcription	Gastric	stomach
49	chr3:61572400-61574200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr3:61572600-61573400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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