Variant report

Variant	rs187400123
Chromosome Location	chr2:40576740-40576741
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	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv34071	chr2:40435231-40578229	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1010508	chr2:40526981-40590777	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv535655	chr2:40526981-40590777	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv873914	chr2:40573350-40586022	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv873915	chr2:40573350-40615520	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv516330	chr2:40576347-40579948	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40543200-40578800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:40552800-40590600	Weak transcription	Fetal Kidney	kidney
3	chr2:40560200-40579000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:40570400-40576800	Enhancers	NHDF-Ad	bronchial
5	chr2:40571000-40577000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:40571400-40576800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:40571600-40582600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:40573200-40577000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:40573400-40576800	Enhancers	NHLF	lung
10	chr2:40573400-40577200	Enhancers	HSMM	muscle
11	chr2:40573600-40576800	Enhancers	NH-A	brain
12	chr2:40574000-40579600	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:40574600-40576800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:40574600-40576800	Enhancers	Osteobl	bone
15	chr2:40574600-40579400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:40574600-40579600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:40574600-40580000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:40574600-40580000	Weak transcription	Left Ventricle	heart
19	chr2:40574600-40586000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:40574600-40590600	Weak transcription	Aorta	Aorta
21	chr2:40574800-40576800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:40574800-40579600	Weak transcription	Dnd41	blood
23	chr2:40575600-40576800	Enhancers	HMEC	breast
24	chr2:40576000-40578400	Weak transcription	Hela-S3	cervix
25	chr2:40576000-40579800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:40576000-40579800	Weak transcription	Adipose Nuclei	Adipose
27	chr2:40576200-40576800	Enhancers	Fetal Heart	heart
28	chr2:40576200-40578800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr2:40576400-40578800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:40576400-40579800	Weak transcription	Right Ventricle	heart
31	chr2:40576600-40576800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr2:40576600-40576800	Enhancers	Ovary	ovary
33	chr2:40576600-40576800	Enhancers	Right Atrium	heart
34	chr2:40576600-40578800	Weak transcription	HSMMtube	muscle
35	chr2:40576600-40579200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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