Variant report

Variant	rs563819045
Chromosome Location	chr2:48752482-48752483
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005954	chr2:48692696-48905723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535682	chr2:48692696-48905723	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv833981	chr2:48705444-48878179	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1007491	chr2:48752185-48796441	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv535683	chr2:48752185-48796441	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48694200-48753000	Weak transcription	Psoas Muscle	Psoas
2	chr2:48709400-48755200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:48726400-48756800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:48728200-48756800	Weak transcription	HMEC	breast
5	chr2:48736000-48752800	Weak transcription	Small Intestine	intestine
6	chr2:48736400-48752600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr2:48736400-48753400	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr2:48736400-48754600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:48737800-48756200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:48738000-48755400	Weak transcription	HUVEC	blood vessel
11	chr2:48738000-48756800	Weak transcription	NH-A	brain
12	chr2:48738200-48753800	Weak transcription	Hela-S3	cervix
13	chr2:48740000-48754400	Weak transcription	NHLF	lung
14	chr2:48740000-48756000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:48740000-48757600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr2:48741000-48753000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:48742400-48756200	Weak transcription	NHDF-Ad	bronchial
18	chr2:48743000-48754600	Weak transcription	Fetal Kidney	kidney
19	chr2:48743200-48756000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr2:48743200-48756200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:48743200-48756800	Weak transcription	Stomach Mucosa	stomach
22	chr2:48743400-48753000	Weak transcription	Fetal Heart	heart
23	chr2:48743400-48753000	Weak transcription	Right Ventricle	heart
24	chr2:48743400-48756200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr2:48743400-48756400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr2:48743400-48757400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:48743400-48757400	Weak transcription	Gastric	stomach
28	chr2:48743800-48752800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:48744000-48756600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:48744000-48756800	Weak transcription	Colonic Mucosa	Colon
31	chr2:48744600-48752800	Weak transcription	Pancreas	Pancrea
32	chr2:48744600-48753200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:48744600-48754800	Weak transcription	HSMMtube	muscle
34	chr2:48744600-48756400	Weak transcription	Brain Germinal Matrix	brain
35	chr2:48744800-48755800	Weak transcription	HepG2	liver
36	chr2:48744800-48756200	Weak transcription	Fetal Brain Female	brain
37	chr2:48745200-48756200	Weak transcription	Esophagus	oesophagus
38	chr2:48745600-48752800	Weak transcription	Left Ventricle	heart
39	chr2:48745600-48753000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr2:48745600-48755200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr2:48745600-48756800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:48745800-48756400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr2:48745800-48756400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr2:48745800-48756400	Weak transcription	Brain Angular Gyrus	brain
45	chr2:48745800-48756400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:48746000-48752800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr2:48746000-48753000	Weak transcription	Aorta	Aorta
48	chr2:48746000-48754200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:48746000-48754600	Weak transcription	Brain Substantia Nigra	brain
50	chr2:48746000-48755200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links