Variant report

Variant	rs13393753
Chromosome Location	chr2:110447867-110447868
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:110435840..110438654-chr2:110446999..110448898,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13383702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13390863	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2004112	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2099402	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874777	chr2:109825516-110693317	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1011456	chr2:110290958-110980402	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv535861	chr2:110290958-110980402	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv482469	chr2:110302488-110452580	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1009367	chr2:110349178-110863354	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	esv2762780	chr2:110367969-110462496	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv491837	chr2:110381297-110964737	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv999552	chr2:110396395-110978224	Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv428061	chr2:110423940-110714002	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer 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

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110439600-110456400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:110441400-110456600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:110442800-110448200	Enhancers	HepG2	liver
4	chr2:110442800-110453400	Enhancers	Colon Smooth Muscle	Colon
5	chr2:110443400-110448000	Weak transcription	Pancreas	Pancrea
6	chr2:110445400-110451000	Enhancers	Fetal Stomach	stomach
7	chr2:110445800-110448400	Enhancers	Rectal Smooth Muscle	rectum
8	chr2:110445800-110451000	Enhancers	Spleen	Spleen
9	chr2:110446400-110449600	Enhancers	Fetal Muscle Leg	muscle
10	chr2:110446400-110452000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:110446400-110453400	Enhancers	Fetal Intestine Large	intestine
12	chr2:110446400-110453600	Enhancers	Fetal Intestine Small	intestine
13	chr2:110446600-110450600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:110446800-110448200	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr2:110446800-110448600	Enhancers	Stomach Mucosa	stomach
16	chr2:110446800-110448800	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr2:110446800-110449600	Enhancers	Placenta Amnion	Placenta Amnion
18	chr2:110446800-110450400	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr2:110446800-110450400	Enhancers	Fetal Lung	lung
20	chr2:110446800-110451200	Enhancers	Duodenum Mucosa	Duodenum
21	chr2:110446800-110451800	Enhancers	Ovary	ovary
22	chr2:110446800-110452000	Enhancers	Placenta	Placenta
23	chr2:110446800-110453000	Enhancers	Fetal Heart	heart
24	chr2:110447000-110448600	Enhancers	Liver	Liver
25	chr2:110447000-110449400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr2:110447000-110449400	Enhancers	Right Ventricle	heart
27	chr2:110447000-110450200	Enhancers	Right Atrium	heart
28	chr2:110447200-110448400	Weak transcription	Esophagus	oesophagus
29	chr2:110447200-110449000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:110447400-110448400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:110447400-110449400	Enhancers	Fetal Muscle Trunk	muscle
32	chr2:110447600-110448400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:110447600-110448800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr2:110447600-110449000	Enhancers	Fetal Kidney	kidney
35	chr2:110447600-110449200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:110447600-110449200	Enhancers	Fetal Brain Male	brain
37	chr2:110447600-110449200	Enhancers	Left Ventricle	heart
38	chr2:110447600-110449400	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr2:110447600-110450400	Enhancers	Lung	lung
40	chr2:110447600-110450400	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr2:110447600-110450400	Enhancers	Small Intestine	intestine
42	chr2:110447800-110448800	Enhancers	Colonic Mucosa	Colon
43	chr2:110447800-110449400	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr2:110447800-110451400	Weak transcription	Aorta	Aorta

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