Variant report

Variant	rs373499235
Chromosome Location	chr4:48507678-48507679
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48484114..48487251-chr4:48504187..48509460,5	K562	blood:
2	chr4:48341515..48344236-chr4:48506268..48509029,2	K562	blood:
3	chr4:48505446..48507840-chr4:48520996..48523756,2	K562	blood:

Variant related genes	Relation type
ENSG00000109171	Chromatin interaction
ENSG00000145248	Chromatin interaction
ENSG00000075539	Chromatin interaction

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	nsv470034	chr4:48427773-48605628	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv594121	chr4:48427773-48605628	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv829925	chr4:48467693-48639342	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48492600-48510600	Weak transcription	HepG2	liver
2	chr4:48493600-48509200	Weak transcription	Pancreas	Pancrea
3	chr4:48493600-48510600	Weak transcription	Gastric	stomach
4	chr4:48493600-48523000	Weak transcription	Right Ventricle	heart
5	chr4:48493800-48509600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr4:48493800-48510600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:48494000-48511600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr4:48494000-48511800	Weak transcription	Colon Smooth Muscle	Colon
9	chr4:48494200-48509800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:48494200-48510600	Weak transcription	HSMMtube	muscle
11	chr4:48494800-48509400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr4:48494800-48510600	Weak transcription	Esophagus	oesophagus
13	chr4:48495000-48510000	Weak transcription	Brain Germinal Matrix	brain
14	chr4:48495200-48513600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:48495400-48523000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:48495600-48509600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr4:48495600-48509800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:48495800-48511600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:48496200-48540600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr4:48496400-48510600	Weak transcription	Small Intestine	intestine
21	chr4:48496800-48511400	Weak transcription	Fetal Heart	heart
22	chr4:48497000-48521600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:48497200-48507800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr4:48497600-48509200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr4:48497800-48509200	Weak transcription	Psoas Muscle	Psoas
26	chr4:48498000-48507800	Weak transcription	Lung	lung
27	chr4:48498200-48539600	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr4:48498200-48540000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:48498400-48509800	Weak transcription	Aorta	Aorta
30	chr4:48498400-48511600	Weak transcription	Stomach Mucosa	stomach
31	chr4:48498400-48511800	Weak transcription	Fetal Brain Male	brain
32	chr4:48498600-48593000	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr4:48499000-48510600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr4:48499000-48578800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr4:48499000-48589400	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr4:48499200-48540000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:48499400-48527400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr4:48499600-48581400	Strong transcription	Dnd41	blood
39	chr4:48499800-48511600	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr4:48499800-48540000	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr4:48500200-48517400	Strong transcription	Primary B cells from peripheral blood	blood
42	chr4:48500200-48588800	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr4:48500400-48540000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:48501000-48538800	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr4:48501400-48578600	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr4:48501600-48508800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr4:48501600-48509600	Weak transcription	Brain Angular Gyrus	brain
48	chr4:48501600-48510800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr4:48501600-48523000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr4:48501800-48510600	Weak transcription	H1 Cell Line	embryonic stem cell

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