Variant report

Variant	rs555194749
Chromosome Location	chr2:110443993-110443994
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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
10	esv14570	chr2:110442927-110447590	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110434200-110447600	Weak transcription	Small Intestine	intestine
2	chr2:110437200-110447400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:110438600-110446800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:110439000-110447600	Weak transcription	Fetal Kidney	kidney
5	chr2:110439400-110446800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:110439600-110445800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:110439600-110447000	Weak transcription	Right Ventricle	heart
8	chr2:110439600-110456400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:110441400-110445800	Weak transcription	Spleen	Spleen
10	chr2:110441400-110446800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:110441400-110447000	Weak transcription	Liver	Liver
12	chr2:110441400-110456600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:110442800-110444000	Enhancers	Stomach Smooth Muscle	stomach
14	chr2:110442800-110444400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:110442800-110445000	Enhancers	Rectal Smooth Muscle	rectum
16	chr2:110442800-110448200	Enhancers	HepG2	liver
17	chr2:110442800-110453400	Enhancers	Colon Smooth Muscle	Colon
18	chr2:110443000-110444000	Enhancers	Fetal Heart	heart
19	chr2:110443000-110445000	Enhancers	Fetal Stomach	stomach
20	chr2:110443000-110446000	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr2:110443200-110447200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:110443400-110444200	Weak transcription	Ovary	ovary
23	chr2:110443400-110446400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:110443400-110446400	Weak transcription	Fetal Intestine Large	intestine
25	chr2:110443400-110446800	Weak transcription	Esophagus	oesophagus
26	chr2:110443400-110447000	Weak transcription	Right Atrium	heart
27	chr2:110443400-110447600	Weak transcription	Left Ventricle	heart
28	chr2:110443400-110447600	Weak transcription	Lung	lung
29	chr2:110443400-110448000	Weak transcription	Pancreas	Pancrea
30	chr2:110443600-110444000	Weak transcription	Brain Germinal Matrix	brain
31	chr2:110443600-110444000	Weak transcription	Fetal Lung	lung
32	chr2:110443600-110446400	Weak transcription	Fetal Intestine Small	intestine
33	chr2:110443800-110445200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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