Variant report

Variant	rs57943064
Chromosome Location	chr3:61560098-61560099
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:61556565..61559490-chr3:61559531..61561160,2	MCF-7	breast:
2	chr3:61554363..61558137-chr3:61559653..61562085,4	MCF-7	breast:

Extended variants
information (count: 25 )
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]
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[AMR][1000 genomes]
rs72888675	1.00[AMR][1000 genomes]
rs72888676	1.00[AMR][1000 genomes]
rs72888678	1.00[AMR][1000 genomes]
rs7640772	1.00[AMR][1000 genomes]
rs9878929	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	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

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:61550600-61568600	Weak transcription	Pancreas	Pancrea
2	chr3:61550800-61574200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr3:61551000-61561600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:61551600-61563800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:61552200-61563400	Weak transcription	Colon Smooth Muscle	Colon
6	chr3:61553600-61566400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr3:61555600-61560200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:61556200-61564000	Weak transcription	HepG2	liver
9	chr3:61556600-61560800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr3:61556800-61560600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:61556800-61561000	Enhancers	Right Ventricle	heart
12	chr3:61557000-61561600	Weak transcription	Ovary	ovary
13	chr3:61557400-61561000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:61557600-61561000	Enhancers	Psoas Muscle	Psoas
15	chr3:61557800-61560600	Weak transcription	HMEC	breast
16	chr3:61557800-61560800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr3:61557800-61561600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr3:61557800-61561800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr3:61558000-61563800	Weak transcription	Adipose Nuclei	Adipose
20	chr3:61558000-61564000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:61558200-61560200	Weak transcription	NH-A	brain
22	chr3:61558200-61563800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:61558400-61579800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr3:61558600-61560800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr3:61558800-61562000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:61558800-61566600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr3:61559000-61561400	Weak transcription	Aorta	Aorta
28	chr3:61559200-61560200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr3:61559200-61560200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr3:61559200-61561200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:61559200-61563200	Enhancers	NHDF-Ad	bronchial
32	chr3:61559400-61563000	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr3:61559600-61560200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr3:61559600-61560600	ZNF genes & repeats	HSMM	muscle
35	chr3:61559800-61560200	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr3:61559800-61560600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:61559800-61560600	Enhancers	Lung	lung
38	chr3:61559800-61560600	Enhancers	NHLF	lung
39	chr3:61559800-61560600	Flanking Active TSS	Osteobl	bone
40	chr3:61559800-61560800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
41	chr3:61559800-61560800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr3:61559800-61560800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr3:61559800-61560800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:61559800-61560800	ZNF genes & repeats	NHEK	skin
45	chr3:61559800-61561600	Weak transcription	Fetal Heart	heart
46	chr3:61559800-61562200	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr3:61559800-61562400	Enhancers	Left Ventricle	heart
48	chr3:61560000-61560200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:61560000-61560200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr3:61560000-61560400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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