Variant report

Variant	nsv1017284
Chromosome Location	chr5:104152874-104254188
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	chr5:104195080-104195455	K562	blood:	n/a	chr5:104195252-104195263
4	CEBPB	chr5:104177422-104177540	K562	blood:	n/a	n/a
5	CEBPB	chr5:104195099-104195433	H1-hESC	embryonic stem cell:	n/a	chr5:104195252-104195263
6	CEBPB	chr5:104195172-104195487	MCF-7	breast:	n/a	chr5:104195252-104195263
7	CEBPB	chr5:104195073-104195449	IMR90	lung:	n/a	chr5:104195252-104195263
8	CEBPB	chr5:104195078-104195490	Hela-S3	cervix:	n/a	chr5:104195252-104195263
9	CEBPB	chr5:104246629-104247018	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr5:104195083-104195431	A549	lung:	n/a	chr5:104195252-104195263
11	CEBPB	chr5:104195135-104195333	K562	blood:	n/a	chr5:104195252-104195263
12	CEBPB	chr5:104195098-104195441	HepG2	liver:	n/a	chr5:104195252-104195263
13	CEBPB	chr5:104195064-104195524	A549	lung:	n/a	chr5:104195252-104195263
14	CEBPB	chr5:104171648-104171720	HepG2	liver:	n/a	n/a
15	CEBPB	chr5:104195095-104195389	MCF-7	breast:	n/a	chr5:104195252-104195263
16	CEBPB	chr5:104195089-104195447	ECC-1	luminal epithelium:	n/a	chr5:104195252-104195263
17	CEBPD	chr5:104179642-104179910	K562	blood:	n/a	n/a
18	CHD2	chr5:104246611-104246974	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr5:104168786-104168937	MCF-7	breast:	n/a	n/a
20	CTCF	chr5:104168740-104168890	HEK293	kidney:	n/a	n/a
21	CTCF	chr5:104230760-104230910	Caco-2	colon:	n/a	n/a
22	CTCF	chr5:104168822-104168919	HepG2	liver:	n/a	n/a
23	CTCF	chr5:104202995-104203016	LNCaP	prostate:	n/a	n/a
24	CTCF	chr5:104234611-104234636	Lung_OC	lung:	n/a	n/a
25	CTCF	chr5:104249560-104249710	BE2_C	brain:	n/a	n/a
26	CTCF	chr5:104195892-104195968	LNCaP	prostate:	n/a	n/a
27	CTCF	chr5:104249600-104249750	BE2_C	brain:	n/a	n/a
28	CTCF	chr5:104157740-104157890	NHDF-neo	bronchial:	n/a	n/a
29	CTCF	chr5:104168700-104168850	BE2_C	brain:	n/a	n/a
30	CTCF	chr5:104168847-104168889	K562	blood:	n/a	n/a
31	CTCF	chr5:104168815-104168886	MCF-7	breast:	n/a	n/a
32	CTCF	chr5:104186901-104186941	GM10266	blood:	n/a	n/a
33	CTCF	chr5:104201160-104201310	Caco-2	colon:	n/a	n/a
34	E2F4	chr5:104193727-104194031	MCF10A-Er-Src	breast:	n/a	chr5:104194015-104194024
35	E2F4	chr5:104253014-104253201	MCF10A-Er-Src	breast:	n/a	n/a
36	E2F4	chr5:104214737-104215233	MCF10A-Er-Src	breast:	n/a	n/a
37	EP300	chr5:104179619-104179848	K562	blood:	n/a	n/a
38	EP300	chr5:104226150-104227492	SK-N-SH	brain:	n/a	n/a
39	EP300	chr5:104246543-104247084	MCF-7	breast:	n/a	n/a
40	EP300	chr5:104249508-104249993	SK-N-SH_RA	brain:	n/a	n/a
41	EP300	chr5:104242180-104242326	K562	blood:	n/a	n/a
42	EP300	chr5:104249074-104250805	SK-N-SH	brain:	n/a	chr5:104250292-104250306 chr5:104250761-104250769 chr5:104249376-104249390 chr5:104250723-104250731
43	EP300	chr5:104226355-104226980	SK-N-SH_RA	brain:	n/a	n/a
44	EP300	chr5:104245506-104245885	SK-N-SH_RA	brain:	n/a	chr5:104245546-104245555
45	EP300	chr5:104245533-104245803	SK-N-SH_RA	brain:	n/a	chr5:104245546-104245555
46	EP300	chr5:104226436-104226922	SK-N-SH_RA	brain:	n/a	n/a
47	EP300	chr5:104246519-104247127	MCF-7	breast:	n/a	n/a
48	EP300	chr5:104249508-104249809	SK-N-SH_RA	brain:	n/a	n/a
49	EP300	chr5:104183449-104184092	MCF-7	breast:	n/a	chr5:104183812-104183826 chr5:104183806-104183820 chr5:104183808-104183822
50	FAM48A	chr5:104224052-104224133	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:104226367..104227906-chr5:104228376..104230821,2	MCF-7	breast:
2	chr5:104223049..104225474-chr5:104235768..104238593,2	MCF-7	breast:
3	chr5:104226367..104227906-chr5:104228376..104230821,2	MCF-7	breast:
4	chr5:104246978..104249905-chr5:104251799..104254646,2	MCF-7	breast:
5	chr5:104223049..104225474-chr5:104235768..104238593,2	MCF-7	breast:
6	chr5:104234931..104236476-chr5:104238248..104241105,2	MCF-7	breast:
7	chr5:104239889..104241844-chr5:104241951..104244541,2	MCF-7	breast:
8	chr5:104227529..104229773-chr5:104240979..104242491,2	MCF-7	breast:
9	chr5:104246978..104249905-chr5:104251799..104254646,2	MCF-7	breast:
10	chr17:57939158..57941470-chr5:104246724..104248724,2	MCF-7	breast:
11	chr5:104239889..104241844-chr5:104241951..104244541,2	MCF-7	breast:
12	chr5:104248370..104250240-chr5:104261197..104262793,2	MCF-7	breast:
13	chr5:104234931..104236476-chr5:104238248..104241105,2	MCF-7	breast:
14	chr5:104227529..104229773-chr5:104240979..104242491,2	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
4	lnc-NUDT12-7	chr5:104253193-104253599	ENSG00000253584

Variant related genes	Relation type
ENSG00000251574	TF binding region

Extended variants
information (count: 1555 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1555 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17157162	chr5:104152874-104152875	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181308613	chr5:104152880-104152881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374318057	chr5:104152925-104152926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534411395	chr5:104152933-104152934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186500695	chr5:104152959-104152960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530884458	chr5:104152965-104152966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115515039	chr5:104153013-104153014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556550211	chr5:104153044-104153045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576127072	chr5:104153077-104153078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541963327	chr5:104153079-104153080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191759845	chr5:104153084-104153085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367881196	chr5:104153096-104153097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540444375	chr5:104153143-104153144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35503715	chr5:104153157-104153158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570716918	chr5:104153165-104153166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548439489	chr5:104153167-104153168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532473230	chr5:104153188-104153189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183103587	chr5:104153224-104153225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187745184	chr5:104153229-104153230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73206342	chr5:104153266-104153267	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs370446094	chr5:104153279-104153280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145651293	chr5:104153325-104153326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527851228	chr5:104153333-104153334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547982807	chr5:104153370-104153371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571039367	chr5:104153447-104153448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191060665	chr5:104153452-104153453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111906826	chr5:104153502-104153503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549757417	chr5:104153511-104153512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569677015	chr5:104153523-104153524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535463398	chr5:104153575-104153576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1355822	chr5:104153576-104153577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555413555	chr5:104153578-104153579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182094239	chr5:104153582-104153583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187851426	chr5:104153585-104153586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs715375	chr5:104153592-104153593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs192483482	chr5:104153639-104153640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570561885	chr5:104153667-104153668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs60180576	chr5:104153673-104153674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577059754	chr5:104153677-104153678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546118500	chr5:104153684-104153685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199619149	chr5:104153691-104153692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184820070	chr5:104153694-104153695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115348971	chr5:104153722-104153723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367654266	chr5:104153772-104153773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138619307	chr5:104153818-104153819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561729550	chr5:104153823-104153824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149326699	chr5:104153858-104153859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188088125	chr5:104153884-104153885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564744801	chr5:104153888-104153889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191948253	chr5:104153919-104153920	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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104151200-104154800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:104157200-104157800	Enhancers	Fetal Intestine Large	intestine
3	chr5:104157200-104159600	Enhancers	Fetal Intestine Small	intestine
4	chr5:104173200-104173400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr5:104173200-104173400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:104173200-104173400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:104173200-104173400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr5:104173200-104173400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr5:104173200-104173400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr5:104173400-104179600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr5:104174800-104176200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr5:104175000-104175800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:104175000-104176200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:104175000-104177000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:104175000-104180000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:104175200-104175600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr5:104175200-104175600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:104175200-104175800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:104175200-104176200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr5:104175400-104176200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr5:104175600-104178600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:104175800-104181200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:104176200-104178200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr5:104176200-104178400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr5:104176200-104179600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:104177000-104178200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr5:104178200-104178800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr5:104178200-104179000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr5:104178400-104178800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr5:104178600-104179000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:104178800-104181200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr5:104179000-104181400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr5:104179000-104181800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:104179400-104180200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:104179600-104180200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr5:104179600-104180200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr5:104179600-104180200	Enhancers	Gastric	stomach
38	chr5:104180000-104182800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr5:104180200-104181400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr5:104180200-104181600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr5:104181200-104181800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:104181200-104182000	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr5:104181400-104181600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr5:104181400-104182000	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr5:104181600-104181800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr5:104181800-104182000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:104181800-104183000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:104182800-104183600	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr5:104183000-104183200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:104183400-104184200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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