Variant report

Variant	rs557432899
Chromosome Location	chr5:49961984-49961985
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	chr5:49961594-49964348	GM18526	blood:	n/a	n/a
2	SPI1	chr5:49961792-49962084	HL-60	blood:	n/a	n/a
3	POLR2A	chr5:49961505-49964690	GM12891	blood:	n/a	n/a
4	POLR2A	chr5:49961202-49962088	GM12892	blood:	n/a	n/a
5	MAZ	chr5:49961945-49964411	IMR90	lung:	n/a	chr5:49963252-49963261 chr5:49963676-49963685
6	POLR2A	chr5:49961316-49962271	GM12891	blood:	n/a	n/a
7	WRNIP1	chr5:49961365-49962011	GM12878	blood:	n/a	n/a
8	POLR2A	chr5:49961460-49962077	GM12878	blood:	n/a	n/a
9	SPI1	chr5:49961831-49962049	K562	blood:	n/a	n/a
10	POLR2A	chr5:49961626-49964340	GM15510	blood:	n/a	n/a
11	TCF3	chr5:49961361-49961988	GM12878	blood:	n/a	n/a
12	POLR2A	chr5:49961280-49964895	GM12892	blood:	n/a	n/a
13	POU2F2	chr5:49961391-49962001	GM12891	blood:	n/a	n/a
14	IRF4	chr5:49961238-49962102	GM12878	blood:	n/a	n/a
15	CHD2	chr5:49961902-49961997	GM12878	blood:	n/a	n/a
16	SPI1	chr5:49961502-49962065	GM12891	blood:	n/a	n/a
17	POLR2A	chr5:49961312-49962076	GM12892	blood:	n/a	n/a
18	POLR2A	chr5:49961583-49964252	GM18951	blood:	n/a	n/a
19	SPI1	chr5:49961752-49962105	HL-60	blood:	n/a	n/a
20	POLR2A	chr5:49961694-49964516	NB4	blood:	n/a	n/a
21	POLR2A	chr5:49961584-49964392	GM12892	blood:	n/a	n/a
22	POU2F2	chr5:49961234-49962118	GM12878	blood:	n/a	n/a
23	MXI1	chr5:49961674-49962006	GM12878	blood:	n/a	n/a
24	SPI1	chr5:49961511-49962097	GM12878	blood:	n/a	n/a
25	POLR2A	chr5:49961533-49962050	GM12878	blood:	n/a	n/a
26	POLR2A	chr5:49961304-49964881	GM12878	blood:	n/a	n/a
27	IRF4	chr5:49961352-49962084	GM12878	blood:	n/a	n/a
28	SPI1	chr5:49961810-49962045	K562	blood:	n/a	n/a
29	IKZF1	chr5:49961548-49962087	GM12878	blood:	n/a	n/a
30	POLR2A	chr5:49961474-49962085	GM12892	blood:	n/a	n/a
31	POLR2A	chr5:49961818-49962029	GM12878	blood:	n/a	n/a
32	ZNF143	chr5:49961896-49963996	GM12878	blood:	n/a	chr5:49963198-49963216 chr5:49963051-49963061 chr5:49962440-49962450 chr5:49962003-49962021 chr5:49963440-49963450 chr5:49962537-49962547
33	SPI1	chr5:49961426-49962145	GM12878	blood:	n/a	n/a
34	POLR2A	chr5:49961622-49964360	GM18505	blood:	n/a	n/a
35	REST	chr5:49961907-49964104	H1-neurons	neurons:	n/a	chr5:49962419-49962437 chr5:49963348-49963366 chr5:49962276-49962286 chr5:49963036-49963050
36	PAX5	chr5:49961293-49962054	GM12878	blood:	n/a	n/a
37	PAX5	chr5:49961269-49962076	GM12878	blood:	n/a	n/a
38	ZNF263	chr5:49961868-49964704	HEK293-T-REx	kidney:	n/a	chr5:49962733-49962754
39	NFIC	chr5:49961474-49962026	GM12878	blood:	n/a	n/a
40	POU2F2	chr5:49961374-49962085	GM12891	blood:	n/a	n/a
41	POLR2A	chr5:49961766-49964274	GM12878	blood:	n/a	n/a
42	MAZ	chr5:49961620-49964194	GM12878	blood:	n/a	chr5:49963252-49963261 chr5:49963676-49963685
43	BATF	chr5:49961424-49962086	GM12878	blood:	n/a	n/a
44	POLR2A	chr5:49961320-49964999	GM12878	blood:	n/a	n/a
45	POLR2A	chr5:49961750-49964358	GM19193	blood:	n/a	n/a
46	POLR2A	chr5:49961360-49962077	GM12891	blood:	n/a	n/a
47	CHD1	chr5:49961890-49964262	GM12878	blood:	n/a	chr5:49962226-49962236 chr5:49962219-49962229 chr5:49962314-49962324
48	SP1	chr5:49961472-49961988	GM12878	blood:	n/a	chr5:49961932-49961939
49	SPI1	chr5:49961789-49962029	GM12878	blood:	n/a	n/a
50	POLR2A	chr5:49961234-49964768	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
PARP8	TF binding region
ENSG00000271752	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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49959600-49962200	Weak transcription	Left Ventricle	heart
2	chr5:49959800-49962200	Weak transcription	Lung	lung
3	chr5:49959800-49962200	Weak transcription	Spleen	Spleen
4	chr5:49961200-49962000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr5:49961200-49962200	Weak transcription	Pancreas	Pancrea
6	chr5:49961400-49962000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr5:49961400-49962200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:49961400-49962400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:49961600-49962000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:49961600-49962000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:49961600-49962000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr5:49961600-49962000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr5:49961600-49962000	Flanking Active TSS	Primary B cells from peripheral blood	blood
14	chr5:49961600-49962000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr5:49961600-49962000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:49961600-49962000	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr5:49961600-49962000	Flanking Active TSS	Brain Substantia Nigra	brain
18	chr5:49961600-49962000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
19	chr5:49961600-49962000	Flanking Active TSS	Stomach Mucosa	stomach
20	chr5:49961600-49962000	Flanking Active TSS	NHEK	skin
21	chr5:49961600-49962200	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr5:49961600-49962200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr5:49961600-49962200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr5:49961600-49962200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:49961600-49962200	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr5:49961600-49963000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:49961600-49963000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:49961600-49963200	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr5:49961600-49964400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:49961600-49964600	Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr5:49961600-49964800	Active TSS	H9 Cell Line	embryonic stem cell
32	chr5:49961600-49964800	Active TSS	Duodenum Mucosa	Duodenum
33	chr5:49961600-49965200	Active TSS	GM12878-XiMat	blood
34	chr5:49961600-49965400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr5:49961800-49962000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
36	chr5:49961800-49962000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:49961800-49962000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
38	chr5:49961800-49962000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
39	chr5:49961800-49962000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:49961800-49962000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
41	chr5:49961800-49962000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
42	chr5:49961800-49962000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr5:49961800-49962000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
44	chr5:49961800-49962000	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr5:49961800-49962000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr5:49961800-49962000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:49961800-49962000	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr5:49961800-49962000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:49961800-49962000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr5:49961800-49962000	Flanking Active TSS	Adipose Nuclei	Adipose

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