Variant report

Variant	rs56696131
Chromosome Location	chr3:61567532-61567533
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:61563961..61566388-chr3:61566827..61568499,2	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]
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[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:57 , 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	chr3:61558400-61579800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:61560600-61575200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:61560800-61568800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:61560800-61568800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:61560800-61569400	Weak transcription	NHEK	skin
8	chr3:61560800-61575200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr3:61561800-61569200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:61562400-61568200	Weak transcription	Ovary	ovary
11	chr3:61562400-61575200	Weak transcription	HSMM	muscle
12	chr3:61562400-61578600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr3:61564600-61569400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:61564600-61570400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr3:61564600-61575400	Weak transcription	HUVEC	blood vessel
16	chr3:61564600-61593400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr3:61564800-61568800	Weak transcription	Psoas Muscle	Psoas
18	chr3:61564800-61577000	Weak transcription	Fetal Intestine Large	intestine
19	chr3:61565000-61568200	Weak transcription	Lung	lung
20	chr3:61565000-61570000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr3:61565000-61579800	Weak transcription	Adipose Nuclei	Adipose
22	chr3:61565200-61588800	Weak transcription	Fetal Intestine Small	intestine
23	chr3:61565600-61569400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr3:61565600-61575200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr3:61566200-61570000	Enhancers	Fetal Heart	heart
26	chr3:61566800-61576800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr3:61567000-61568800	Enhancers	Left Ventricle	heart
28	chr3:61567000-61569200	Weak transcription	Fetal Lung	lung
29	chr3:61567000-61569400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:61567000-61574200	Weak transcription	Fetal Stomach	stomach
31	chr3:61567000-61577000	Weak transcription	Aorta	Aorta
32	chr3:61567200-61567800	Weak transcription	Right Atrium	heart
33	chr3:61567200-61568200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr3:61567200-61568200	Weak transcription	Right Ventricle	heart
35	chr3:61567200-61568600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr3:61567200-61568800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:61567200-61568800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr3:61567200-61568800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr3:61567200-61569000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:61567200-61569200	Weak transcription	Colon Smooth Muscle	Colon
41	chr3:61567200-61569400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr3:61567200-61569600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr3:61567200-61569600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr3:61567200-61572000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr3:61567200-61572000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr3:61567200-61572200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr3:61567200-61573400	Weak transcription	Fetal Muscle Leg	muscle
48	chr3:61567200-61573600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr3:61567200-61573800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr3:61567200-61574400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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