Variant report

Variant	rs558483599
Chromosome Location	chr2:134024758-134024759
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997821	chr2:133868822-134360220	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535927	chr2:133868822-134360220	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1002488	chr2:133890159-134275312	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv535928	chr2:133890159-134275312	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1011100	chr2:133900062-134046163	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv3375790	chr2:133906915-134222833	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv1005405	chr2:133930876-134055434	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv535929	chr2:133930876-134055434	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv516915	chr2:133999831-134054662	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv834384	chr2:134005229-134188648	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	esv3367779	chr2:134023582-134025680	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	esv3323199	chr2:134024082-134025280	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134022800-134025000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
2	chr2:134022800-134025000	Enhancers	Fetal Heart	heart
3	chr2:134022800-134025000	Active TSS	Hela-S3	cervix
4	chr2:134022800-134025200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr2:134023000-134024800	Active TSS	Left Ventricle	heart
6	chr2:134023000-134024800	Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr2:134023000-134025000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr2:134023000-134025000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
9	chr2:134023000-134025200	Active TSS	H9 Cell Line	embryonic stem cell
10	chr2:134023000-134025200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr2:134023000-134025200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr2:134023000-134025200	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr2:134023000-134025200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:134023200-134024800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
15	chr2:134023200-134024800	Active TSS	Psoas Muscle	Psoas
16	chr2:134023200-134024800	Active TSS	Right Atrium	heart
17	chr2:134023200-134025200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr2:134023400-134025200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr2:134023600-134024800	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr2:134023600-134024800	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr2:134023600-134024800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:134023600-134024800	Active TSS	Brain Anterior Caudate	brain
23	chr2:134023600-134025000	Active TSS	Brain Angular Gyrus	brain
24	chr2:134023600-134025000	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr2:134023600-134025000	Active TSS	A549	lung
26	chr2:134023600-134025000	Active TSS	NHLF	lung
27	chr2:134023600-134025200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
28	chr2:134023800-134024800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:134023800-134024800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
30	chr2:134023800-134025000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:134023800-134025000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:134023800-134025000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
33	chr2:134023800-134025000	Active TSS	Fetal Kidney	kidney
34	chr2:134023800-134025000	Active TSS	Ovary	ovary
35	chr2:134023800-134025000	Active TSS	Right Ventricle	heart
36	chr2:134023800-134025200	Active TSS	NHEK	skin
37	chr2:134023800-134026400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:134024000-134024800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:134024000-134024800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:134024000-134024800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:134024000-134024800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:134024000-134024800	Active TSS	Brain Cingulate Gyrus	brain
43	chr2:134024000-134024800	Active TSS	Brain Germinal Matrix	brain
44	chr2:134024000-134024800	Active TSS	Fetal Brain Female	brain
45	chr2:134024000-134024800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
46	chr2:134024000-134024800	Active TSS	HUVEC	blood vessel
47	chr2:134024000-134024800	Active TSS	NH-A	brain
48	chr2:134024000-134025000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:134024000-134025000	Active TSS	Brain Hippocampus Middle	brain
50	chr2:134024000-134025000	Active TSS	Brain Inferior Temporal Lobe	brain

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