Variant report

Variant	rs539508749
Chromosome Location	chr2:30523530-30523531
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv2663	chr2:30522750-30567544	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30496600-30524200	Weak transcription	Right Atrium	heart
2	chr2:30516800-30524200	Weak transcription	Lung	lung
3	chr2:30518200-30524600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:30522200-30524000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr2:30522200-30524200	Weak transcription	Primary B cells from cord blood	blood
6	chr2:30522200-30524400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:30522600-30523600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:30522600-30524400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:30522600-30524400	Weak transcription	Esophagus	oesophagus
10	chr2:30522600-30524600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr2:30522600-30524600	Enhancers	Rectal Smooth Muscle	rectum
12	chr2:30522600-30524800	Enhancers	Left Ventricle	heart
13	chr2:30522600-30525000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:30522600-30525000	Enhancers	Fetal Stomach	stomach
15	chr2:30522600-30525200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr2:30522600-30525400	Enhancers	NHDF-Ad	bronchial
17	chr2:30522600-30525600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr2:30522600-30525800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr2:30522800-30523600	Enhancers	Right Ventricle	heart
20	chr2:30522800-30524200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:30522800-30524200	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr2:30522800-30524600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:30522800-30524600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:30522800-30524600	Enhancers	Ovary	ovary
25	chr2:30522800-30524600	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr2:30522800-30524800	Enhancers	Fetal Lung	lung
27	chr2:30522800-30525000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr2:30522800-30525000	Enhancers	H1 Cell Line	embryonic stem cell
29	chr2:30522800-30525200	Enhancers	H9 Cell Line	embryonic stem cell
30	chr2:30522800-30525200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr2:30522800-30525200	Enhancers	NH-A	brain
32	chr2:30522800-30525800	Enhancers	NHLF	lung
33	chr2:30522800-30526000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:30522800-30526200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:30523000-30523600	Enhancers	Aorta	Aorta
36	chr2:30523000-30523600	Enhancers	Fetal Intestine Large	intestine
37	chr2:30523000-30523800	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr2:30523000-30524200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:30523000-30524600	Enhancers	Pancreas	Pancrea
40	chr2:30523000-30525200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:30523000-30525200	Enhancers	Fetal Thymus	thymus
42	chr2:30523000-30526000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr2:30523200-30523600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:30523200-30523600	Flanking Active TSS	Colon Smooth Muscle	Colon
45	chr2:30523200-30523800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:30523200-30524000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:30523200-30524200	Weak transcription	Placenta	Placenta
48	chr2:30523200-30524400	Enhancers	Fetal Muscle Leg	muscle
49	chr2:30523200-30524600	Flanking Active TSS	A549	lung
50	chr2:30523200-30524800	Enhancers	HSMM	muscle

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