Variant report

Variant	rs80319126
Chromosome Location	chr2:153210550-153210551
allele	A/T
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	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	esv3693435	chr2:153210444-153219178	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153193800-153211000	Weak transcription	HSMMtube	muscle
2	chr2:153194200-153224400	Weak transcription	Aorta	Aorta
3	chr2:153194600-153214600	Weak transcription	Gastric	stomach
4	chr2:153196000-153224800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:153196600-153211800	Weak transcription	Small Intestine	intestine
6	chr2:153198200-153214000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:153198600-153214400	Weak transcription	Right Atrium	heart
8	chr2:153199400-153212200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:153199800-153211800	Weak transcription	Fetal Kidney	kidney
10	chr2:153200400-153211800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:153200400-153215200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:153200600-153225600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:153200800-153210600	Weak transcription	Psoas Muscle	Psoas
14	chr2:153200800-153212600	Weak transcription	Fetal Intestine Large	intestine
15	chr2:153200800-153215800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:153200800-153222000	Weak transcription	Placenta	Placenta
17	chr2:153200800-153225800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:153201600-153216000	Weak transcription	Fetal Lung	lung
19	chr2:153202400-153211000	Weak transcription	NHEK	skin
20	chr2:153202400-153219800	Weak transcription	Hela-S3	cervix
21	chr2:153202400-153225600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:153203000-153223800	Weak transcription	Fetal Stomach	stomach
23	chr2:153203000-153233000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:153205200-153210600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:153205200-153210600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:153205200-153211400	Weak transcription	Adipose Nuclei	Adipose
27	chr2:153205200-153216000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:153205400-153223800	Weak transcription	HMEC	breast
29	chr2:153206400-153210800	Weak transcription	Fetal Brain Female	brain
30	chr2:153206600-153214400	Weak transcription	Left Ventricle	heart
31	chr2:153206800-153210600	Weak transcription	Fetal Brain Male	brain
32	chr2:153206800-153215600	Weak transcription	Pancreas	Pancrea
33	chr2:153206800-153240800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:153207000-153214400	Weak transcription	Lung	lung
35	chr2:153207000-153223200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:153207600-153246400	Weak transcription	Fetal Intestine Small	intestine
37	chr2:153208200-153210600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:153208200-153212200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:153208400-153212000	Enhancers	Brain Hippocampus Middle	brain
40	chr2:153208400-153212600	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr2:153208400-153212600	Enhancers	Brain Substantia Nigra	brain
42	chr2:153208400-153212800	Enhancers	Brain Angular Gyrus	brain
43	chr2:153208400-153212800	Enhancers	Brain Cingulate Gyrus	brain
44	chr2:153208400-153212800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:153208600-153211600	Enhancers	Brain Anterior Caudate	brain
46	chr2:153209200-153210800	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr2:153209200-153211000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:153209200-153211200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:153209400-153237000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:153209600-153211600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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