Variant report

Variant	rs555527495
Chromosome Location	chr2:40447926-40447927
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv873902	chr2:40231282-40466268	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1004092	chr2:40264608-40451701	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1000572	chr2:40271958-40458911	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv535654	chr2:40271958-40458911	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv581502	chr2:40273903-40459645	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv873904	chr2:40292289-40466268	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv873910	chr2:40391907-40466268	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv1851152	chr2:40393223-40512023	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv526074	chr2:40423454-40451724	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	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
12	nsv1008190	chr2:40429442-40506772	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	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
14	nsv524586	chr2:40447587-40497501	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40437200-40453200	Weak transcription	Right Ventricle	heart
2	chr2:40445200-40448200	Enhancers	Fetal Heart	heart
3	chr2:40445600-40448200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr2:40445800-40448000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:40445800-40448200	Enhancers	Colon Smooth Muscle	Colon
6	chr2:40446000-40448000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:40446000-40448000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:40446000-40448000	Enhancers	Osteobl	bone
9	chr2:40446000-40448200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:40446000-40448200	Enhancers	HSMM	muscle
11	chr2:40446200-40448000	Enhancers	NHDF-Ad	bronchial
12	chr2:40446400-40454400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:40446400-40455400	Weak transcription	Psoas Muscle	Psoas
14	chr2:40447000-40448000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:40447000-40448000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr2:40447000-40448000	Enhancers	Fetal Stomach	stomach
17	chr2:40447000-40448000	Enhancers	Rectal Smooth Muscle	rectum
18	chr2:40447200-40448000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:40447200-40448000	Enhancers	Fetal Brain Male	brain
20	chr2:40447200-40448000	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr2:40447400-40448000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr2:40447400-40448000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr2:40447400-40448000	Enhancers	NHLF	lung
24	chr2:40447400-40448200	Enhancers	Ovary	ovary
25	chr2:40447600-40448000	Flanking Active TSS	HSMMtube	muscle
26	chr2:40447800-40451000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:40447800-40452600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:40447800-40452600	Weak transcription	Fetal Muscle Leg	muscle
29	chr2:40447800-40452600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr2:40447800-40452800	Weak transcription	Fetal Lung	lung
31	chr2:40447800-40452800	Weak transcription	Left Ventricle	heart
32	chr2:40447800-40453000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:40447800-40454400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:40447800-40457600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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