Variant report

Variant	rs552988277
Chromosome Location	chr5:49961432-49961433
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:49961202-49962088	GM12892	blood:	n/a	n/a
2	POLR2A	chr5:49961316-49962271	GM12891	blood:	n/a	n/a
3	WRNIP1	chr5:49961365-49962011	GM12878	blood:	n/a	n/a
4	TCF3	chr5:49961361-49961988	GM12878	blood:	n/a	n/a
5	POLR2A	chr5:49961280-49964895	GM12892	blood:	n/a	n/a
6	POU2F2	chr5:49961391-49962001	GM12891	blood:	n/a	n/a
7	IRF4	chr5:49961238-49962102	GM12878	blood:	n/a	n/a
8	PAX5	chr5:49961381-49961848	GM12878	blood:	n/a	n/a
9	POLR2A	chr5:49961312-49962076	GM12892	blood:	n/a	n/a
10	POU2F2	chr5:49961234-49962118	GM12878	blood:	n/a	n/a
11	POLR2A	chr5:49961304-49964881	GM12878	blood:	n/a	n/a
12	IRF4	chr5:49961352-49962084	GM12878	blood:	n/a	n/a
13	SP1	chr5:49961350-49961870	GM12878	blood:	n/a	n/a
14	SPI1	chr5:49961426-49962145	GM12878	blood:	n/a	n/a
15	PAX5	chr5:49961293-49962054	GM12878	blood:	n/a	n/a
16	PAX5	chr5:49961269-49962076	GM12878	blood:	n/a	n/a
17	EP300	chr5:49961275-49961948	GM12878	blood:	n/a	chr5:49961916-49961925 chr5:49961715-49961729
18	EBF1	chr5:49961378-49961939	GM12878	blood:	n/a	n/a
19	POU2F2	chr5:49961374-49962085	GM12891	blood:	n/a	n/a
20	BATF	chr5:49961424-49962086	GM12878	blood:	n/a	n/a
21	POLR2A	chr5:49961320-49964999	GM12878	blood:	n/a	n/a
22	POLR2A	chr5:49961360-49962077	GM12891	blood:	n/a	n/a
23	POLR2A	chr5:49961234-49964768	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr5:49961403-49964470	GM12891	blood:	n/a	n/a
25	POLR2A	chr5:49961372-49962039	GM12891	blood:	n/a	n/a
26	POLR2A	chr5:49961172-49964402	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000271752	TF binding region
PARP8	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016583	chr5:49455624-50116720	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1023140	chr5:49455624-50121623	Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv918220	chr5:49584188-50111282	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv931010	chr5:49584189-50118254	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv523212	chr5:49597497-50058043	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS 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
6	esv2757995	chr5:49748352-50058182	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv2759342	chr5:49748352-50058182	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv16870	chr5:49885849-49989415	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv818352	chr5:49958221-50017724	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv462159	chr5:49960673-50229851	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv598108	chr5:49960673-50229851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv968172	chr5:49961360-49966431	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv968910	chr5:49961360-49980983	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49949800-49961600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:49953000-49961800	Weak transcription	Esophagus	oesophagus
3	chr5:49958800-49961800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:49959200-49961600	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr5:49959200-49961800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr5:49959400-49961600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr5:49959600-49961600	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr5:49959600-49961600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr5:49959600-49961600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr5:49959600-49961800	Weak transcription	Small Intestine	intestine
11	chr5:49959600-49962200	Weak transcription	Left Ventricle	heart
12	chr5:49959800-49962200	Weak transcription	Lung	lung
13	chr5:49959800-49962200	Weak transcription	Spleen	Spleen
14	chr5:49960000-49961600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr5:49960000-49961800	Weak transcription	Adipose Nuclei	Adipose
16	chr5:49960000-49961800	Weak transcription	Placenta	Placenta
17	chr5:49960400-49961600	Weak transcription	Fetal Lung	lung
18	chr5:49960400-49961600	Enhancers	Stomach Mucosa	stomach
19	chr5:49960600-49961600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:49960800-49961600	Enhancers	Primary T cells fromperipheralblood	blood
21	chr5:49961000-49961600	Enhancers	Primary B cells from cord blood	blood
22	chr5:49961000-49961600	Enhancers	Primary B cells from peripheral blood	blood
23	chr5:49961000-49961600	Enhancers	Primary hematopoietic stem cells	blood
24	chr5:49961000-49961600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr5:49961000-49961600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr5:49961000-49961600	Enhancers	Brain Substantia Nigra	brain
27	chr5:49961000-49961600	Enhancers	Stomach Smooth Muscle	stomach
28	chr5:49961000-49961800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr5:49961000-49961800	Enhancers	Fetal Thymus	thymus
30	chr5:49961000-49961800	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr5:49961000-49961800	Enhancers	Dnd41	blood
32	chr5:49961200-49961600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr5:49961200-49961600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:49961200-49961600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:49961200-49961600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:49961200-49961600	Flanking Active TSS	GM12878-XiMat	blood
37	chr5:49961200-49962000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr5:49961200-49962200	Weak transcription	Pancreas	Pancrea
39	chr5:49961400-49961600	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr5:49961400-49961600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr5:49961400-49961600	Enhancers	Brain Anterior Caudate	brain
42	chr5:49961400-49961600	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr5:49961400-49961600	Enhancers	NHEK	skin
44	chr5:49961400-49961800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr5:49961400-49961800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr5:49961400-49961800	Enhancers	Fetal Intestine Large	intestine
47	chr5:49961400-49961800	Enhancers	Fetal Intestine Small	intestine
48	chr5:49961400-49962000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr5:49961400-49962200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:49961400-49962400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links