Variant report

Variant	nsv969047
Chromosome Location	chr5:49918610-49934158
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:49930848-49930877	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr5:49922742-49922790	GM10266	blood:	n/a	n/a
3	CTCF	chr5:49926200-49926215	GM20000	blood:	n/a	n/a
4	EBF1	chr5:49930819-49931044	GM12878	blood:	n/a	n/a
5	EP300	chr5:49930491-49930957	GM12878	blood:	n/a	n/a
6	FOS	chr5:49919597-49919900	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr5:49919589-49919898	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr5:49919596-49919900	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr5:49919598-49919900	MCF10A-Er-Src	breast:	n/a	n/a
10	FOSL2	chr5:49927347-49927680	HepG2	liver:	n/a	n/a
11	FOSL2	chr5:49927382-49927709	HepG2	liver:	n/a	n/a
12	FOSL2	chr5:49930569-49931004	HepG2	liver:	n/a	n/a
13	FOXA1	chr5:49927278-49927754	HepG2	liver:	n/a	n/a
14	FOXA1	chr5:49930347-49931043	HepG2	liver:	n/a	n/a
15	JUND	chr5:49927412-49927652	HepG2	liver:	n/a	n/a
16	MAFK	chr5:49929283-49929544	HepG2	liver:	n/a	n/a
17	MAX	chr5:49930688-49931068	NB4	blood:	n/a	n/a
18	MAX	chr5:49933457-49933761	NB4	blood:	n/a	n/a
19	MAX	chr5:49929966-49930104	NB4	blood:	n/a	chr5:49930074-49930084
20	MYC	chr5:49930689-49931065	NB4	blood:	n/a	n/a
21	POLR2A	chr5:49930754-49930983	HL-60	blood:	n/a	n/a
22	POLR2A	chr5:49930795-49930967	HL-60	blood:	n/a	n/a
23	RXRA	chr5:49930733-49930921	HepG2	liver:	n/a	n/a
24	RXRA	chr5:49927335-49927722	HepG2	liver:	n/a	n/a
25	SIX5	chr5:49930726-49931016	K562	blood:	n/a	n/a
26	SIX5	chr5:49930728-49930951	K562	blood:	n/a	n/a
27	SP1	chr5:49930735-49931026	GM12878	blood:	n/a	n/a
28	SP1	chr5:49927324-49927805	HepG2	liver:	n/a	n/a
29	STAT3	chr5:49932810-49932978	MCF10A-Er-Src	breast:	n/a	n/a
30	TCF12	chr5:49923339-49923550	HepG2	liver:	n/a	n/a
31	TCF12	chr5:49930725-49930930	HepG2	liver:	n/a	n/a
32	TCF12	chr5:49927340-49927680	HepG2	liver:	n/a	n/a
33	USF1	chr5:49927400-49927508	HepG2	liver:	n/a	n/a
34	USF1	chr5:49927421-49927570	HepG2	liver:	n/a	n/a
35	ZBTB33	chr5:49930730-49930987	GM12878	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000213956	TF binding region

Extended variants
information (count: 363 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:363 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542459321	chr5:49919418-49919419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552700285	chr5:49919419-49919420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34219853	chr5:49919420-49919421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138826662	chr5:49919422-49919423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549988959	chr5:49919423-49919424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181017538	chr5:49919445-49919446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187375072	chr5:49919447-49919448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543445715	chr5:49919482-49919483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564059348	chr5:49919493-49919494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529568517	chr5:49919504-49919505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549609029	chr5:49919529-49919530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191796925	chr5:49919540-49919541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73095056	chr5:49919577-49919578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551483059	chr5:49919593-49919594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6888147	chr5:49919619-49919620	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs117300538	chr5:49919653-49919654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182425804	chr5:49919666-49919667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567226260	chr5:49919693-49919694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536097868	chr5:49919702-49919703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535611999	chr5:49919754-49919755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185955397	chr5:49919795-49919796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377201724	chr5:49925432-49925433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571529344	chr5:49925443-49925444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148299916	chr5:49925446-49925447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536911155	chr5:49925451-49925452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556757808	chr5:49925452-49925453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573525089	chr5:49925531-49925532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6892149	chr5:49925547-49925548	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs367833945	chr5:49925881-49925882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147147807	chr5:49925895-49925896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1972980	chr5:49925909-49925910	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs114009757	chr5:49925912-49925913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190720775	chr5:49925916-49925917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565877630	chr5:49925958-49925959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140282922	chr5:49925959-49925960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571126186	chr5:49926000-49926001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113380794	chr5:49926024-49926025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182337703	chr5:49926026-49926027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567211868	chr5:49926035-49926036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6864285	chr5:49926064-49926065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532716102	chr5:49926071-49926072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111283730	chr5:49926110-49926111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534774025	chr5:49926137-49926138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557878264	chr5:49926162-49926163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185089778	chr5:49926163-49926164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs578096952	chr5:49926176-49926177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200097596	chr5:49926183-49926184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543829180	chr5:49926199-49926200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6864477	chr5:49926200-49926201	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs574340061	chr5:49926201-49926202	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49919400-49919800	Enhancers	Stomach Mucosa	stomach
2	chr5:49919600-49919800	Enhancers	Pancreas	Pancrea
3	chr5:49925400-49925600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr5:49925800-49927400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr5:49926400-49934200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:49926600-49934200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:49926800-49934000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr5:49926800-49934400	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr5:49927000-49927200	Enhancers	Primary T cells fromperipheralblood	blood
10	chr5:49927200-49928200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr5:49927200-49929200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr5:49927200-49930600	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr5:49927400-49927800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr5:49927400-49930400	Enhancers	Primary T cells from cord blood	blood
15	chr5:49927400-49931600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr5:49927400-49932400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr5:49927400-49932800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr5:49927800-49930200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr5:49928000-49930000	Enhancers	Dnd41	blood
20	chr5:49928200-49928400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr5:49928200-49931800	Enhancers	Primary T cells fromperipheralblood	blood
22	chr5:49928400-49932400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr5:49928600-49929800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr5:49929000-49930400	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr5:49929000-49930800	Enhancers	Thymus	Thymus
26	chr5:49929000-49932400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr5:49929200-49929400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr5:49929200-49929600	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr5:49929200-49932400	Enhancers	Fetal Thymus	thymus
30	chr5:49929400-49931600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr5:49929400-49936200	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr5:49929600-49931600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr5:49929800-49931600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr5:49930000-49930800	Flanking Active TSS	Dnd41	blood
35	chr5:49930000-49931000	Enhancers	Primary hematopoietic stem cells	blood
36	chr5:49930000-49931600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:49930000-49932400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:49930200-49930800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr5:49930400-49930600	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr5:49930400-49931000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr5:49930600-49931000	Active TSS	Primary T cells from cord blood	blood
42	chr5:49930600-49931000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr5:49930800-49931800	Enhancers	Dnd41	blood
44	chr5:49930800-49933400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr5:49931000-49931400	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr5:49931000-49932200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr5:49931000-49934200	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr5:49931000-49934800	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr5:49931400-49934000	Enhancers	Primary T cells from cord blood	blood
50	chr5:49931600-49932000	Enhancers	Monocytes-CD14+_RO01746	blood

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