Variant report

Variant	nsv980991
Chromosome Location	chr5:104196818-104246919
allele	n/a
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	BACH1	chr5:104223199-104223207	H1-hESC	embryonic stem cell:	n/a	n/a
2	BRCA1	chr5:104246667-104246983	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr5:104246629-104247018	Hela-S3	cervix:	n/a	n/a
4	CHD2	chr5:104246611-104246974	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr5:104234611-104234636	Lung_OC	lung:	n/a	n/a
6	CTCF	chr5:104201160-104201310	Caco-2	colon:	n/a	n/a
7	CTCF	chr5:104202995-104203016	LNCaP	prostate:	n/a	n/a
8	CTCF	chr5:104230760-104230910	Caco-2	colon:	n/a	n/a
9	E2F4	chr5:104214737-104215233	MCF10A-Er-Src	breast:	n/a	n/a
10	EP300	chr5:104226355-104226980	SK-N-SH_RA	brain:	n/a	n/a
11	EP300	chr5:104246519-104247127	MCF-7	breast:	n/a	n/a
12	EP300	chr5:104242180-104242326	K562	blood:	n/a	n/a
13	EP300	chr5:104226436-104226922	SK-N-SH_RA	brain:	n/a	n/a
14	EP300	chr5:104245506-104245885	SK-N-SH_RA	brain:	n/a	chr5:104245546-104245555
15	EP300	chr5:104245533-104245803	SK-N-SH_RA	brain:	n/a	chr5:104245546-104245555
16	EP300	chr5:104246543-104247084	MCF-7	breast:	n/a	n/a
17	EP300	chr5:104226150-104227492	SK-N-SH	brain:	n/a	n/a
18	FAM48A	chr5:104224052-104224133	GM12878	blood:	n/a	n/a
19	FAM48A	chr5:104214782-104214982	GM12878	blood:	n/a	n/a
20	FOS	chr5:104246661-104246934	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr5:104246554-104246964	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr5:104246550-104246973	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr5:104246641-104246949	MCF10A-Er-Src	breast:	n/a	n/a
24	FOSL2	chr5:104246547-104246999	MCF-7	breast:	n/a	n/a
25	FOXA1	chr5:104246614-104246888	T-47D	breast:	n/a	n/a
26	FOXA2	chr5:104246524-104247092	A549	lung:	n/a	n/a
27	FOXA2	chr5:104240164-104240520	A549	lung:	n/a	n/a
28	FOXA2	chr5:104246546-104246969	A549	lung:	n/a	n/a
29	FOXP2	chr5:104246597-104247029	SK-N-MC	brain:	n/a	n/a
30	FOXP2	chr5:104246693-104246885	PFSK-1	brain:	n/a	n/a
31	GATA3	chr5:104240355-104240546	MCF-7	breast:	n/a	n/a
32	GATA3	chr5:104246487-104247089	MCF-7	breast:	n/a	n/a
33	GATA3	chr5:104246471-104247244	MCF-7	breast:	n/a	n/a
34	GATA3	chr5:104246004-104246121	SH-SY5Y	brain:	n/a	n/a
35	GATA3	chr5:104240225-104240611	MCF-7	breast:	n/a	n/a
36	GATA3	chr5:104240025-104240745	MCF-7	breast:	n/a	n/a
37	GATA3	chr5:104243179-104243527	SH-SY5Y	brain:	n/a	chr5:104243191-104243202
38	GATA3	chr5:104238875-104239073	SH-SY5Y	brain:	n/a	chr5:104238911-104238918 chr5:104238911-104238920 chr5:104238911-104238918 chr5:104238911-104238918
39	HDAC2	chr5:104246496-104247162	MCF-7	breast:	n/a	n/a
40	HDAC2	chr5:104246543-104247056	MCF-7	breast:	n/a	n/a
41	MAFF	chr5:104220048-104220265	HepG2	liver:	n/a	n/a
42	MAFK	chr5:104220062-104220343	IMR90	lung:	n/a	chr5:104220172-104220187
43	MAFK	chr5:104245353-104245474	HepG2	liver:	n/a	chr5:104245399-104245413 chr5:104245400-104245415 chr5:104245405-104245414 chr5:104245405-104245415 chr5:104245400-104245411
44	MAFK	chr5:104220077-104220245	HepG2	liver:	n/a	chr5:104220172-104220187
45	MAFK	chr5:104220002-104220308	HepG2	liver:	n/a	chr5:104220172-104220187
46	MAFK	chr5:104245371-104245492	HepG2	liver:	n/a	chr5:104245399-104245413 chr5:104245400-104245415 chr5:104245405-104245414 chr5:104245405-104245415 chr5:104245400-104245411
47	MAFK	chr5:104236004-104236210	HepG2	liver:	n/a	n/a
48	MAX	chr5:104246577-104246989	Hela-S3	cervix:	n/a	n/a
49	MAX	chr5:104203693-104203696	HepG2	liver:	n/a	n/a
50	MAX	chr5:104246580-104247008	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:104223049..104225474-chr5:104235768..104238593,2	MCF-7	breast:
2	chr5:104234931..104236476-chr5:104238248..104241105,2	MCF-7	breast:
3	chr5:104223049..104225474-chr5:104235768..104238593,2	MCF-7	breast:
4	chr17:57939158..57941470-chr5:104246724..104248724,2	MCF-7	breast:
5	chr5:104234931..104236476-chr5:104238248..104241105,2	MCF-7	breast:
6	chr5:104239889..104241844-chr5:104241951..104244541,2	MCF-7	breast:
7	chr5:104227529..104229773-chr5:104240979..104242491,2	MCF-7	breast:
8	chr5:104226367..104227906-chr5:104228376..104230821,2	MCF-7	breast:
9	chr5:104239889..104241844-chr5:104241951..104244541,2	MCF-7	breast:
10	chr5:104226367..104227906-chr5:104228376..104230821,2	MCF-7	breast:
11	chr5:104227529..104229773-chr5:104240979..104242491,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT12-6	chr5:104222559-104222676	ENSG00000251574
2	lnc-NUDT12-6	chr5:104222559-104222676	ENSG00000251574
3	lnc-NUDT12-6	chr5:104246363-104246434	ENSG00000251574

Variant related genes	Relation type
ENSG00000251574	TF binding region

Extended variants
information (count: 611 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575267377	chr5:104202062-104202063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544290860	chr5:104202063-104202064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554812409	chr5:104202090-104202091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574878831	chr5:104202164-104202165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190147810	chr5:104202165-104202166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370050648	chr5:104202166-104202167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138995011	chr5:104202167-104202168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181800548	chr5:104202248-104202249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559522369	chr5:104202252-104202253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs71588371	chr5:104202270-104202271	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs150911997	chr5:104202299-104202300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552383577	chr5:104202300-104202301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531553704	chr5:104202305-104202306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568381087	chr5:104202314-104202315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545356156	chr5:104202346-104202347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547525016	chr5:104202368-104202369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185539859	chr5:104202373-104202374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139349829	chr5:104202389-104202390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560782304	chr5:104202422-104202423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529814826	chr5:104202455-104202456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546849049	chr5:104202472-104202473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1626414	chr5:104202477-104202478	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs538927314	chr5:104202482-104202483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564244320	chr5:104202497-104202498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552489246	chr5:104202501-104202502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568907129	chr5:104202514-104202515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190412096	chr5:104202547-104202548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554956326	chr5:104202552-104202553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574803935	chr5:104202560-104202561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557910298	chr5:104202562-104202563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs180690494	chr5:104202580-104202581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573116015	chr5:104202582-104202583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545319286	chr5:104202587-104202588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533094124	chr5:104222409-104222410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533511406	chr5:104222465-104222466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs3106500	chr5:104222478-104222479	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs550387403	chr5:104222516-104222517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570308202	chr5:104222547-104222548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189359142	chr5:104222574-104222575	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs549613645	chr5:104222589-104222590	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs150366844	chr5:104222602-104222603	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs191088802	chr5:104222615-104222616	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs560588023	chr5:104222629-104222630	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs184449595	chr5:104222635-104222636	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs557757699	chr5:104222669-104222670	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs562128234	chr5:104222670-104222671	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs35564471	chr5:104222679-104222680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571394139	chr5:104222689-104222690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs111355893	chr5:104222693-104222694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537192083	chr5:104222696-104222697	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Obesity	20622171	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104202000-104202600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr5:104222400-104222600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:104222400-104222800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:104222800-104223800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:104223600-104224200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:104223800-104224200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:104223800-104224200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:104223800-104224200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr5:104223800-104224200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:104223800-104224200	Enhancers	Brain Substantia Nigra	brain
11	chr5:104234400-104235200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr5:104235800-104236400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:104235800-104236600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:104236000-104236400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:104236000-104236600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr5:104236000-104237800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:104236200-104236800	Enhancers	Brain Anterior Caudate	brain
18	chr5:104236200-104237000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:104237800-104245400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:104239600-104240600	Enhancers	A549	lung
21	chr5:104240200-104240800	Enhancers	HepG2	liver
22	chr5:104243000-104243200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:104243200-104245400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:104245400-104246800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:104245400-104247200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr5:104245600-104246400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:104245600-104246600	Enhancers	Hela-S3	cervix
28	chr5:104245600-104247800	Active TSS	A549	lung
29	chr5:104245800-104246200	Enhancers	NHEK	skin
30	chr5:104245800-104247600	Enhancers	HMEC	breast
31	chr5:104246000-104246600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:104246000-104247000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:104246200-104246600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr5:104246200-104247000	Flanking Active TSS	NHEK	skin
35	chr5:104246400-104246600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr5:104246400-104246600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr5:104246400-104247600	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr5:104246600-104246800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr5:104246600-104246800	Flanking Active TSS	Hela-S3	cervix
40	chr5:104246600-104247000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr5:104246600-104247000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:104246800-104247000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr5:104246800-104247000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:104246800-104247200	Active TSS	Hela-S3	cervix

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