Variant report

Variant	nsv1024301
Chromosome Location	chr5:104324185-104355954
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr5:104325896-104325918	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr5:104334377-104334640	K562	blood:	n/a	chr5:104334524-104334537
3	EP300	chr5:104334266-104334668	K562	blood:	n/a	chr5:104334377-104334391
4	FOS	chr5:104334422-104334610	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr5:104334393-104334604	MCF10A-Er-Src	breast:	n/a	n/a
6	HMGN3	chr5:104334384-104334657	K562	blood:	n/a	n/a
7	IRF3	chr5:104328539-104328698	GM12878	blood:	n/a	n/a
8	JUN	chr5:104347113-104347222	H1-hESC	embryonic stem cell:	n/a	n/a
9	JUND	chr5:104334501-104334701	K562	blood:	n/a	chr5:104334682-104334691
10	MAFF	chr5:104334331-104334558	K562	blood:	n/a	n/a
11	MAFF	chr5:104326132-104326283	K562	blood:	n/a	n/a
12	MAFK	chr5:104334370-104334570	K562	blood:	n/a	n/a
13	MAFK	chr5:104329606-104329831	HepG2	liver:	n/a	n/a
14	MAFK	chr5:104334379-104334511	HepG2	liver:	n/a	n/a
15	MAFK	chr5:104334276-104334556	HepG2	liver:	n/a	n/a
16	MAFK	chr5:104326113-104326201	HepG2	liver:	n/a	n/a
17	MAFK	chr5:104325260-104325268	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAFK	chr5:104326036-104326301	HepG2	liver:	n/a	n/a
19	MYC	chr5:104331786-104331934	NB4	blood:	n/a	n/a
20	POLR2A	chr5:104341335-104341411	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr5:104333284-104333415	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr5:104349643-104349839	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr5:104347322-104347522	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr5:104334026-104334186	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr5:104350402-104350472	MCF10A-Er-Src	breast:	n/a	n/a
26	SPI1	chr5:104338125-104338314	GM12878	blood:	n/a	n/a
27	STAT1	chr5:104341756-104341844	GM12878	blood:	n/a	n/a
28	STAT3	chr5:104329368-104329547	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr5:104352274-104352275	MCF10A-Er-Src	breast:	n/a	n/a
30	STAT3	chr5:104327645-104327747	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr5:104332619-104332814	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr5:104346728-104346873	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr5:104335163-104335363	MCF10A-Er-Src	breast:	n/a	n/a
34	TAL1	chr5:104334373-104334659	K562	blood:	n/a	n/a
35	TBL1XR1	chr5:104334465-104334665	K562	blood:	n/a	n/a
36	ZC3H11A	chr5:104353747-104353748	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:104345171-104345221	PFSK-1	brain:	n/a
2	chr5:104345171-104345221	HMEC	breast:	n/a
3	chr5:104345171-104345221	CMK	blood:	n/a
4	chr5:104345171-104345221	Jurkat	blood:	n/a
5	chr5:104345171-104345221	GM06990	blood:	n/a
6	chr5:104345171-104345221	AG04450	lung:	fetal
7	chr5:104345171-104345221	MCF-7	breast:	n/a
8	chr5:104345171-104345221	BE2_C	brain:	n/a
9	chr5:104345171-104345221	AG10803	skin:	n/a
10	chr5:104345171-104345221	LNCaP	prostate:	n/a
11	chr5:104345171-104345221	NT2-D1	testis:	n/a
12	chr5:104345171-104345221	U87	brain:	n/a
13	chr5:104345171-104345221	K562	blood:	n/a
14	chr5:104345171-104345221	HRCEpiC	kidney:	n/a
15	chr5:104345171-104345221	HEK293	kidney:	embryo
16	chr5:104345171-104345221	A549	lung:	n/a
17	chr5:104345171-104345221	HCF	heart:	n/a
18	chr5:104345171-104345221	Hepatocyte	liver:	n/a
19	chr5:104345171-104345221	AG09309	skin:	n/a
20	chr5:104345171-104345221	PANC-1	pancreas:	n/a
21	chr5:104345171-104345221	GM12892	blood:	n/a
22	chr5:104345171-104345221	H1-hESC	embryonic stem cell:	embryo
23	chr5:104345171-104345221	T-47D	breast:	n/a
24	chr5:104345171-104345221	HCPEpiC	choroid plexus:	n/a
25	chr5:104345171-104345221	HAEpiC	amniotic membrane:	n/a
26	chr5:104345171-104345221	ovcar-3	ovarian:	n/a
27	chr5:104345171-104345221	GM19239	blood:	n/a
28	chr5:104345171-104345221	AG04449	skin:	fetal
29	chr5:104345171-104345221	NHDF-neo	bronchial:	n/a
30	chr5:104345171-104345221	PrEC	prostate:	n/a
31	chr5:104345171-104345221	NB4	blood:	n/a
32	chr5:104345171-104345221	MCF10A-Er-Src	breast:	n/a
33	chr5:104345171-104345221	NHBE	bronchial:	n/a
34	chr5:104345171-104345221	HPAEpiC	pulmonary alveolar:	n/a
35	chr5:104345171-104345221	HepG2	liver:	n/a
36	chr5:104345171-104345221	SK-N-MC	brain:	n/a
37	chr5:104345171-104345221	IMR90	lung:	fetal
38	chr5:104345171-104345221	HIPEpiC	eye:	n/a
39	chr5:104345171-104345221	HRPEpiC	eye:	n/a
40	chr5:104345171-104345221	SK-N-SH_RA	brain:	n/a
41	chr5:104345171-104345221	HUVEC	blood vessel:	n/a
42	chr5:104345171-104345221	Hela-S3	cervix:	n/a
43	chr5:104345171-104345221	HL-60	blood:	n/a
44	chr5:104345171-104345221	HEEpiC	esophagus:	n/a
45	chr5:104345171-104345221	SKMC	muscle:	n/a
46	chr5:104345171-104345221	HCM	heart:	n/a
47	chr5:104345171-104345221	SAEC	small airway:	n/a
48	chr5:104345171-104345221	AoSMC	blood vessel:	n/a
49	chr5:104345171-104345221	ProgFib	skin:	n/a
50	chr5:104345171-104345221	SK-N-SH	brain:	n/a

No data

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT12-7	chr5:104344562-104344612	ENSG00000253584
2	lnc-NUDT12-7	chr5:104344562-104344618	ENSG00000253584

No data

Variant related genes	Relation type
ENSG00000253584	TF binding region
ENSG00000253584	CpG island

Extended variants
information (count: 108 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538202840	chr5:104324191-104324192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555223872	chr5:104324268-104324269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568398290	chr5:104324273-104324274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs3852178	chr5:104324279-104324280	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs191095713	chr5:104324309-104324310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77625300	chr5:104324365-104324366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145321504	chr5:104324423-104324424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147612263	chr5:104324508-104324509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142176344	chr5:104324511-104324512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371966007	chr5:104324533-104324534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544213301	chr5:104324538-104324539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561199313	chr5:104324540-104324541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562350673	chr5:104324588-104324589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2910960	chr5:104324592-104324593	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs370022998	chr5:104324805-104324806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560381455	chr5:104324826-104324827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186600310	chr5:104324827-104324828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568708405	chr5:104324845-104324846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534190612	chr5:104324918-104324919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377564311	chr5:104324960-104324961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553354762	chr5:104325001-104325002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116934190	chr5:104325008-104325009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190584707	chr5:104325030-104325031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539987500	chr5:104325046-104325047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556603206	chr5:104325123-104325124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370756392	chr5:104325130-104325131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183069785	chr5:104325169-104325170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527511779	chr5:104325200-104325201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs3852179	chr5:104325221-104325222	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs113596166	chr5:104325226-104325227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148225559	chr5:104325233-104325234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537212471	chr5:104325239-104325240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140056415	chr5:104325241-104325242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531957325	chr5:104325244-104325245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538344758	chr5:104325256-104325257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576041445	chr5:104325260-104325261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544773757	chr5:104325272-104325273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550219702	chr5:104325290-104325291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs17565931	chr5:104325297-104325298	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs34755698	chr5:104325303-104325304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116567328	chr5:104325337-104325338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192656733	chr5:104325380-104325381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562256066	chr5:104325418-104325419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs3902463	chr5:104325461-104325462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182553375	chr5:104325469-104325470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528034746	chr5:104325473-104325474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187970123	chr5:104325477-104325478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368431611	chr5:104325508-104325509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548108729	chr5:104325575-104325576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570887874	chr5:104325586-104325587	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Schizophrenia	21346763	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104322600-104324600	Enhancers	K562	blood
2	chr5:104324800-104326000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:104325200-104326400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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