Variant report

Variant	rs72888670
Chromosome Location	chr3:61570098-61570099
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
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]
rs72888675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72888676	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:5 , 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

No data

Chromatin state (count:62 , 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	chr3:61564600-61570400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr3:61564600-61575400	Weak transcription	HUVEC	blood vessel
9	chr3:61564600-61593400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr3:61564800-61577000	Weak transcription	Fetal Intestine Large	intestine
11	chr3:61565000-61579800	Weak transcription	Adipose Nuclei	Adipose
12	chr3:61565200-61588800	Weak transcription	Fetal Intestine Small	intestine
13	chr3:61565600-61575200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr3:61566800-61576800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:61567000-61574200	Weak transcription	Fetal Stomach	stomach
16	chr3:61567000-61577000	Weak transcription	Aorta	Aorta
17	chr3:61567200-61572000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:61567200-61572000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr3:61567200-61572200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr3:61567200-61573400	Weak transcription	Fetal Muscle Leg	muscle
21	chr3:61567200-61573600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr3:61567200-61573800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr3:61567200-61574400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:61567200-61574800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr3:61567200-61575200	Weak transcription	HSMMtube	muscle
26	chr3:61567200-61575400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:61567200-61578800	Weak transcription	Brain Anterior Caudate	brain
28	chr3:61567200-61579800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr3:61567200-61580800	Weak transcription	Fetal Kidney	kidney
30	chr3:61568800-61570600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr3:61569000-61572000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr3:61569000-61575200	Weak transcription	Lung	lung
33	chr3:61569200-61570200	Enhancers	Liver	Liver
34	chr3:61569200-61570400	Enhancers	Fetal Lung	lung
35	chr3:61569200-61570600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:61569200-61570600	Enhancers	Colon Smooth Muscle	Colon
37	chr3:61569200-61572600	Weak transcription	Right Ventricle	heart
38	chr3:61569400-61570200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr3:61569400-61570200	Enhancers	NHEK	skin
40	chr3:61569400-61570600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:61569400-61574200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr3:61569400-61575200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr3:61569600-61570200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr3:61569600-61570400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr3:61569600-61571200	Weak transcription	Left Ventricle	heart
46	chr3:61569600-61571200	Weak transcription	Right Atrium	heart
47	chr3:61569600-61571800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr3:61569600-61572200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr3:61569600-61572200	Weak transcription	Ovary	ovary
50	chr3:61569600-61572200	Weak transcription	Psoas Muscle	Psoas

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