Variant report

Variant	rs116559360
Chromosome Location	chr4:48038871-48038872
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1013947	chr4:47915527-48052824	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv537082	chr4:47915527-48052824	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1006745	chr4:47935250-48052824	Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv537083	chr4:47935250-48052824	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv967990	chr4:48037803-48041600	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48019800-48043600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:48019800-48049800	Weak transcription	Esophagus	oesophagus
3	chr4:48020600-48049600	Weak transcription	Colonic Mucosa	Colon
4	chr4:48024600-48043600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:48026800-48045400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr4:48028200-48040800	Weak transcription	Gastric	stomach
7	chr4:48028200-48042600	Weak transcription	Placenta	Placenta
8	chr4:48031600-48041800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:48032800-48045000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr4:48033000-48045000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr4:48034200-48049600	Weak transcription	Pancreas	Pancrea
12	chr4:48034400-48039400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:48034800-48039200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:48034800-48041600	Strong transcription	HMEC	breast
15	chr4:48035000-48039000	Weak transcription	Hela-S3	cervix
16	chr4:48035800-48040200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:48036000-48040400	Enhancers	Primary B cells from peripheral blood	blood
18	chr4:48036200-48040000	Weak transcription	HepG2	liver
19	chr4:48036200-48041000	Enhancers	Primary B cells from cord blood	blood
20	chr4:48036400-48046400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr4:48036600-48040400	Weak transcription	Fetal Intestine Small	intestine
22	chr4:48037000-48039000	Strong transcription	Fetal Intestine Large	intestine
23	chr4:48037000-48039800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr4:48037800-48039000	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr4:48037800-48039600	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr4:48038000-48039000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr4:48038000-48039000	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr4:48038000-48042800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:48038000-48044600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr4:48038000-48044800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr4:48038000-48047800	Weak transcription	NHEK	skin
32	chr4:48038200-48039000	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr4:48038200-48040200	Weak transcription	Liver	Liver
34	chr4:48038200-48044400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr4:48038200-48045200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:48038400-48044600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr4:48038600-48039400	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr4:48038600-48043600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr4:48038600-48045200	Weak transcription	Fetal Heart	heart
40	chr4:48038600-48053000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:48038800-48039400	Flanking Active TSS	GM12878-XiMat	blood

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