Variant report

Variant	rs548483334
Chromosome Location	chr2:153251962-153251963
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1005012	chr2:153206764-153273886	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv875291	chr2:153251742-153339823	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153229200-153252400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:153233800-153255400	Weak transcription	NHEK	skin
3	chr2:153237400-153255400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:153237400-153255400	Weak transcription	HMEC	breast
5	chr2:153238600-153258600	Weak transcription	Left Ventricle	heart
6	chr2:153241200-153255400	Weak transcription	Pancreas	Pancrea
7	chr2:153242800-153252600	Weak transcription	A549	lung
8	chr2:153243400-153252600	Weak transcription	Fetal Brain Female	brain
9	chr2:153243800-153252000	Weak transcription	Fetal Lung	lung
10	chr2:153246600-153266600	Enhancers	Brain Substantia Nigra	brain
11	chr2:153247000-153257800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:153247200-153255400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:153247400-153252600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:153247400-153252600	Weak transcription	Fetal Stomach	stomach
15	chr2:153247400-153255400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:153247400-153277600	Weak transcription	Fetal Intestine Small	intestine
17	chr2:153247800-153258800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:153248800-153253600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:153249000-153252400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:153249000-153252600	Enhancers	Brain Cingulate Gyrus	brain
21	chr2:153249200-153252600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr2:153249200-153253800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr2:153249200-153254200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr2:153249400-153253200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:153249600-153255400	Weak transcription	Gastric	stomach
26	chr2:153249600-153255400	Weak transcription	Lung	lung
27	chr2:153249600-153259000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:153250000-153252000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr2:153250000-153252400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:153250000-153253200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:153250000-153254200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr2:153250200-153252600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:153250400-153257600	Weak transcription	HepG2	liver
34	chr2:153250600-153252400	Weak transcription	Fetal Muscle Leg	muscle
35	chr2:153250600-153252600	Enhancers	Brain Hippocampus Middle	brain
36	chr2:153250800-153252000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:153250800-153253600	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr2:153250800-153258800	Weak transcription	Small Intestine	intestine
39	chr2:153251200-153252200	Enhancers	Brain Angular Gyrus	brain
40	chr2:153251200-153252200	Enhancers	Rectal Smooth Muscle	rectum
41	chr2:153251200-153252400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr2:153251200-153252600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:153251200-153253800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr2:153251200-153254000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr2:153251400-153252000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:153251400-153252000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:153251400-153252200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:153251400-153252200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:153251400-153252400	Enhancers	NH-A	brain
50	chr2:153251400-153252800	Enhancers	Colon Smooth Muscle	Colon

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