Variant report

Variant	rs141221352
Chromosome Location	chr5:49961724-49961725
allele	A/G
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	POLR2A	chr5:49961505-49964690	GM12891	blood:	n/a	n/a
3	POLR2A	chr5:49961202-49962088	GM12892	blood:	n/a	n/a
4	POLR2A	chr5:49961316-49962271	GM12891	blood:	n/a	n/a
5	WRNIP1	chr5:49961365-49962011	GM12878	blood:	n/a	n/a
6	PAX5	chr5:49961461-49961842	GM12878	blood:	n/a	n/a
7	POLR2A	chr5:49961460-49962077	GM12878	blood:	n/a	n/a
8	SIN3A	chr5:49961624-49961785	GM12878	blood:	n/a	n/a
9	POLR2A	chr5:49961626-49964340	GM15510	blood:	n/a	n/a
10	TCF3	chr5:49961361-49961988	GM12878	blood:	n/a	n/a
11	POLR2A	chr5:49961280-49964895	GM12892	blood:	n/a	n/a
12	POLR2A	chr5:49961558-49961839	Hela-S3	cervix:	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	PAX5	chr5:49961381-49961848	GM12878	blood:	n/a	n/a
16	TBL1XR1	chr5:49961622-49961822	GM12878	blood:	n/a	n/a
17	SPI1	chr5:49961502-49962065	GM12891	blood:	n/a	n/a
18	BCL11A	chr5:49961450-49961802	GM12878	blood:	n/a	chr5:49961720-49961729
19	TCF12	chr5:49961513-49961899	GM12878	blood:	n/a	n/a
20	POLR2A	chr5:49961312-49962076	GM12892	blood:	n/a	n/a
21	HEY1	chr5:49961498-49961818	HepG2	liver:	n/a	n/a
22	POLR2A	chr5:49961570-49961933	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr5:49961583-49964252	GM18951	blood:	n/a	n/a
24	POLR2A	chr5:49961694-49964516	NB4	blood:	n/a	n/a
25	POLR2A	chr5:49961584-49964392	GM12892	blood:	n/a	n/a
26	POU2F2	chr5:49961234-49962118	GM12878	blood:	n/a	n/a
27	EBF1	chr5:49961506-49961837	GM12878	blood:	n/a	n/a
28	MXI1	chr5:49961674-49962006	GM12878	blood:	n/a	n/a
29	SPI1	chr5:49961511-49962097	GM12878	blood:	n/a	n/a
30	POLR2A	chr5:49961533-49962050	GM12878	blood:	n/a	n/a
31	POU2F2	chr5:49961508-49961764	GM12878	blood:	n/a	n/a
32	POLR2A	chr5:49961304-49964881	GM12878	blood:	n/a	n/a
33	IRF4	chr5:49961352-49962084	GM12878	blood:	n/a	n/a
34	SP1	chr5:49961350-49961870	GM12878	blood:	n/a	n/a
35	POLR2A	chr5:49961716-49961789	GM12878	blood:	n/a	n/a
36	IKZF1	chr5:49961548-49962087	GM12878	blood:	n/a	n/a
37	POLR2A	chr5:49961474-49962085	GM12892	blood:	n/a	n/a
38	EP300	chr5:49961666-49961907	GM12878	blood:	n/a	chr5:49961715-49961729
39	BHLHE40	chr5:49961650-49961980	GM12878	blood:	n/a	n/a
40	SPI1	chr5:49961426-49962145	GM12878	blood:	n/a	n/a
41	POLR2A	chr5:49961622-49964360	GM18505	blood:	n/a	n/a
42	SPI1	chr5:49961642-49961766	GM12878	blood:	n/a	n/a
43	PAX5	chr5:49961293-49962054	GM12878	blood:	n/a	n/a
44	BATF	chr5:49961434-49961901	GM12878	blood:	n/a	n/a
45	PAX5	chr5:49961269-49962076	GM12878	blood:	n/a	n/a
46	EP300	chr5:49961275-49961948	GM12878	blood:	n/a	chr5:49961916-49961925 chr5:49961715-49961729
47	EBF1	chr5:49961378-49961939	GM12878	blood:	n/a	n/a
48	TCF12	chr5:49961536-49961938	GM12878	blood:	n/a	n/a
49	RCOR1	chr5:49961689-49961829	GM12878	blood:	n/a	n/a
50	NFIC	chr5:49961474-49962026	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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49953000-49961800	Weak transcription	Esophagus	oesophagus
2	chr5:49958800-49961800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr5:49959200-49961800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr5:49959600-49961800	Weak transcription	Small Intestine	intestine
5	chr5:49959600-49962200	Weak transcription	Left Ventricle	heart
6	chr5:49959800-49962200	Weak transcription	Lung	lung
7	chr5:49959800-49962200	Weak transcription	Spleen	Spleen
8	chr5:49960000-49961800	Weak transcription	Adipose Nuclei	Adipose
9	chr5:49960000-49961800	Weak transcription	Placenta	Placenta
10	chr5:49961000-49961800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:49961000-49961800	Enhancers	Fetal Thymus	thymus
12	chr5:49961000-49961800	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr5:49961000-49961800	Enhancers	Dnd41	blood
14	chr5:49961200-49962000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr5:49961200-49962200	Weak transcription	Pancreas	Pancrea
16	chr5:49961400-49961800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr5:49961400-49961800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr5:49961400-49961800	Enhancers	Fetal Intestine Large	intestine
19	chr5:49961400-49961800	Enhancers	Fetal Intestine Small	intestine
20	chr5:49961400-49962000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr5:49961400-49962200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:49961400-49962400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:49961600-49961800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
24	chr5:49961600-49961800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
25	chr5:49961600-49961800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
26	chr5:49961600-49961800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr5:49961600-49961800	Active TSS	Primary T cells from cord blood	blood
28	chr5:49961600-49961800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr5:49961600-49961800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr5:49961600-49961800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr5:49961600-49961800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr5:49961600-49961800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr5:49961600-49961800	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr5:49961600-49961800	Enhancers	Fetal Kidney	kidney
35	chr5:49961600-49961800	Enhancers	Fetal Lung	lung
36	chr5:49961600-49962000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:49961600-49962000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr5:49961600-49962000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
39	chr5:49961600-49962000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr5:49961600-49962000	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr5:49961600-49962000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr5:49961600-49962000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr5:49961600-49962000	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr5:49961600-49962000	Flanking Active TSS	Brain Substantia Nigra	brain
45	chr5:49961600-49962000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
46	chr5:49961600-49962000	Flanking Active TSS	Stomach Mucosa	stomach
47	chr5:49961600-49962000	Flanking Active TSS	NHEK	skin
48	chr5:49961600-49962200	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr5:49961600-49962200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
50	chr5:49961600-49962200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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