Variant report

Variant	nsv882552
Chromosome Location	chr5:104178598-104250159
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	chr5:104195135-104195333	K562	blood:	n/a	chr5:104195252-104195263
4	CEBPB	chr5:104195098-104195441	HepG2	liver:	n/a	chr5:104195252-104195263
5	CEBPB	chr5:104195064-104195524	A549	lung:	n/a	chr5:104195252-104195263
6	CEBPB	chr5:104195172-104195487	MCF-7	breast:	n/a	chr5:104195252-104195263
7	CEBPB	chr5:104195099-104195433	H1-hESC	embryonic stem cell:	n/a	chr5:104195252-104195263
8	CEBPB	chr5:104246629-104247018	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr5:104195095-104195389	MCF-7	breast:	n/a	chr5:104195252-104195263
10	CEBPB	chr5:104195089-104195447	ECC-1	luminal epithelium:	n/a	chr5:104195252-104195263
11	CEBPB	chr5:104195073-104195449	IMR90	lung:	n/a	chr5:104195252-104195263
12	CEBPB	chr5:104195078-104195490	Hela-S3	cervix:	n/a	chr5:104195252-104195263
13	CEBPB	chr5:104195083-104195431	A549	lung:	n/a	chr5:104195252-104195263
14	CEBPB	chr5:104195080-104195455	K562	blood:	n/a	chr5:104195252-104195263
15	CEBPD	chr5:104179642-104179910	K562	blood:	n/a	n/a
16	CHD2	chr5:104246611-104246974	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr5:104186901-104186941	GM10266	blood:	n/a	n/a
18	CTCF	chr5:104202995-104203016	LNCaP	prostate:	n/a	n/a
19	CTCF	chr5:104201160-104201310	Caco-2	colon:	n/a	n/a
20	CTCF	chr5:104249560-104249710	BE2_C	brain:	n/a	n/a
21	CTCF	chr5:104249600-104249750	BE2_C	brain:	n/a	n/a
22	CTCF	chr5:104195892-104195968	LNCaP	prostate:	n/a	n/a
23	CTCF	chr5:104234611-104234636	Lung_OC	lung:	n/a	n/a
24	CTCF	chr5:104230760-104230910	Caco-2	colon:	n/a	n/a
25	E2F4	chr5:104214737-104215233	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F4	chr5:104193727-104194031	MCF10A-Er-Src	breast:	n/a	chr5:104194015-104194024
27	EP300	chr5:104249074-104250805	SK-N-SH	brain:	n/a	chr5:104250292-104250306 chr5:104250761-104250769 chr5:104249376-104249390 chr5:104250723-104250731
28	EP300	chr5:104249508-104249809	SK-N-SH_RA	brain:	n/a	n/a
29	EP300	chr5:104242180-104242326	K562	blood:	n/a	n/a
30	EP300	chr5:104245506-104245885	SK-N-SH_RA	brain:	n/a	chr5:104245546-104245555
31	EP300	chr5:104179619-104179848	K562	blood:	n/a	n/a
32	EP300	chr5:104226355-104226980	SK-N-SH_RA	brain:	n/a	n/a
33	EP300	chr5:104246519-104247127	MCF-7	breast:	n/a	n/a
34	EP300	chr5:104249508-104249993	SK-N-SH_RA	brain:	n/a	n/a
35	EP300	chr5:104183449-104184092	MCF-7	breast:	n/a	chr5:104183812-104183826 chr5:104183806-104183820 chr5:104183808-104183822
36	EP300	chr5:104245533-104245803	SK-N-SH_RA	brain:	n/a	chr5:104245546-104245555
37	EP300	chr5:104226150-104227492	SK-N-SH	brain:	n/a	n/a
38	EP300	chr5:104246543-104247084	MCF-7	breast:	n/a	n/a
39	EP300	chr5:104226436-104226922	SK-N-SH_RA	brain:	n/a	n/a
40	FAM48A	chr5:104224052-104224133	GM12878	blood:	n/a	n/a
41	FAM48A	chr5:104214782-104214982	GM12878	blood:	n/a	n/a
42	FOS	chr5:104246550-104246973	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr5:104246554-104246964	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr5:104246661-104246934	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr5:104246641-104246949	MCF10A-Er-Src	breast:	n/a	n/a
46	FOSL2	chr5:104246547-104246999	MCF-7	breast:	n/a	n/a
47	FOXA1	chr5:104246614-104246888	T-47D	breast:	n/a	n/a
48	FOXA1	chr5:104187926-104188215	HepG2	liver:	n/a	n/a
49	FOXA1	chr5:104187865-104188305	HepG2	liver:	n/a	n/a
50	FOXA1	chr5:104187930-104188209	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:104234931..104236476-chr5:104238248..104241105,2	MCF-7	breast:
2	chr5:104226367..104227906-chr5:104228376..104230821,2	MCF-7	breast:
3	chr5:104223049..104225474-chr5:104235768..104238593,2	MCF-7	breast:
4	chr5:104227529..104229773-chr5:104240979..104242491,2	MCF-7	breast:
5	chr17:57939158..57941470-chr5:104246724..104248724,2	MCF-7	breast:
6	chr5:104227529..104229773-chr5:104240979..104242491,2	MCF-7	breast:
7	chr5:104239889..104241844-chr5:104241951..104244541,2	MCF-7	breast:
8	chr5:104239889..104241844-chr5:104241951..104244541,2	MCF-7	breast:
9	chr5:104246978..104249905-chr5:104251799..104254646,2	MCF-7	breast:
10	chr5:104234931..104236476-chr5:104238248..104241105,2	MCF-7	breast:
11	chr5:104226367..104227906-chr5:104228376..104230821,2	MCF-7	breast:
12	chr5:104248370..104250240-chr5:104261197..104262793,2	MCF-7	breast:
13	chr5:104223049..104225474-chr5:104235768..104238593,2	MCF-7	breast:

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

Variant related genes	Relation type
ENSG00000251574	TF binding region

Extended variants
information (count: 1063 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1063 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17353958	chr5:104178598-104178599	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79211366	chr5:104178619-104178620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528681230	chr5:104178640-104178641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17157234	chr5:104178642-104178643	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs571878073	chr5:104178651-104178652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112875617	chr5:104178700-104178701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141389549	chr5:104178752-104178753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183501525	chr5:104178756-104178757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567630963	chr5:104178780-104178781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6892243	chr5:104178789-104178790	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs369064958	chr5:104178800-104178801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557997382	chr5:104178803-104178804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368222387	chr5:104178826-104178827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534809974	chr5:104178844-104178845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187730881	chr5:104178897-104178898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150826775	chr5:104178900-104178901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543276588	chr5:104178904-104178905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191054593	chr5:104178921-104178922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570341131	chr5:104178925-104178926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573560064	chr5:104178932-104178933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183593512	chr5:104178939-104178940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559389399	chr5:104178961-104178962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6874046	chr5:104178974-104178975	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs540198188	chr5:104178979-104178980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76691464	chr5:104179044-104179045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565451607	chr5:104179047-104179048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531144608	chr5:104179070-104179071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139274814	chr5:104179071-104179072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535743349	chr5:104179087-104179088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs322870	chr5:104179095-104179096	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs529542373	chr5:104179106-104179107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143481613	chr5:104179127-104179128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114122516	chr5:104179150-104179151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186767296	chr5:104179172-104179173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146280639	chr5:104179185-104179186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192446679	chr5:104179186-104179187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114829985	chr5:104179190-104179191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184797280	chr5:104179222-104179223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561772572	chr5:104179227-104179228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556833621	chr5:104179234-104179235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573892407	chr5:104179237-104179238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188060200	chr5:104179243-104179244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs193038267	chr5:104179278-104179279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116594028	chr5:104179351-104179352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184365124	chr5:104179419-104179420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12719534	chr5:104179443-104179444	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs575884917	chr5:104179491-104179492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544869040	chr5:104179503-104179504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561619258	chr5:104179549-104179550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564383543	chr5:104179564-104179565	Enhancers Weak transcription	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:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104173400-104179600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr5:104175000-104180000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr5:104175600-104178600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:104175800-104181200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:104176200-104179600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:104178200-104178800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:104178200-104179000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:104178400-104178800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr5:104178600-104179000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:104178800-104181200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:104179000-104181400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:104179000-104181800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:104179400-104180200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:104179600-104180200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr5:104179600-104180200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr5:104179600-104180200	Enhancers	Gastric	stomach
17	chr5:104180000-104182800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr5:104180200-104181400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr5:104180200-104181600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr5:104181200-104181800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:104181200-104182000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr5:104181400-104181600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr5:104181400-104182000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr5:104181600-104181800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr5:104181800-104182000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:104181800-104183000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:104182800-104183600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr5:104183000-104183200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:104183400-104184200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:104194200-104195800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr5:104194800-104195400	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr5:104194800-104196400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:104195200-104195600	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr5:104202000-104202600	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr5:104222400-104222600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:104222400-104222800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:104222800-104223800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:104223600-104224200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:104223800-104224200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:104223800-104224200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:104223800-104224200	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr5:104223800-104224200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:104223800-104224200	Enhancers	Brain Substantia Nigra	brain
44	chr5:104234400-104235200	Enhancers	Placenta Amnion	Placenta Amnion
45	chr5:104235800-104236400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:104235800-104236600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:104236000-104236400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr5:104236000-104236600	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr5:104236000-104237800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr5:104236200-104236800	Enhancers	Brain Anterior Caudate	brain

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