Variant report

Variant	nsv969241
Chromosome Location	chr5:104668248-104730648
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:189)
CpG islands
(count:123)
Chromatin interactive
region (count:16)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:189 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:104729126-104729280	K562	blood:	n/a	n/a
2	ARID3A	chr5:104728602-104728921	K562	blood:	n/a	n/a
3	ARID3A	chr5:104726542-104727019	K562	blood:	n/a	n/a
4	ATF1	chr5:104728486-104728895	K562	blood:	n/a	n/a
5	BHLHE40	chr5:104728493-104728748	K562	blood:	n/a	n/a
6	CBX3	chr5:104686453-104686733	K562	blood:	n/a	n/a
7	CBX3	chr5:104699005-104699210	K562	blood:	n/a	n/a
8	CBX3	chr5:104728451-104728993	K562	blood:	n/a	n/a
9	CBX3	chr5:104728363-104729015	K562	blood:	n/a	n/a
10	CCNT2	chr5:104727769-104728552	K562	blood:	n/a	n/a
11	CEBPB	chr5:104720977-104721172	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr5:104709840-104710114	HepG2	liver:	n/a	n/a
13	CEBPB	chr5:104709824-104710103	IMR90	lung:	n/a	n/a
14	CEBPB	chr5:104709884-104709984	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr5:104720876-104721252	K562	blood:	n/a	n/a
16	CEBPB	chr5:104709810-104710130	A549	lung:	n/a	n/a
17	CHD2	chr5:104728384-104728863	K562	blood:	n/a	n/a
18	CHD2	chr5:104727637-104727834	K562	blood:	n/a	n/a
19	CTCF	chr5:104674521-104674610	GM10266	blood:	n/a	n/a
20	CTCF	chr5:104727909-104728007	K562	blood:	n/a	n/a
21	CTCF	chr5:104727920-104728070	HepG2	liver:	n/a	n/a
22	CTCF	chr5:104685880-104686030	MCF-7	breast:	n/a	n/a
23	CUX1	chr5:104726999-104727199	K562	blood:	n/a	n/a
24	CUX1	chr5:104727561-104727756	K562	blood:	n/a	n/a
25	CUX1	chr5:104692190-104692242	GM12878	blood:	n/a	n/a
26	CUX1	chr5:104726108-104726579	K562	blood:	n/a	n/a
27	E2F4	chr5:104695521-104695756	MCF10A-Er-Src	breast:	n/a	n/a
28	ELF1	chr5:104728044-104728975	K562	blood:	n/a	n/a
29	ELF1	chr5:104728575-104728905	HepG2	liver:	n/a	n/a
30	ELF1	chr5:104728319-104729210	HCT-116	colon:	n/a	n/a
31	ELF1	chr5:104728448-104729083	HCT-116	colon:	n/a	n/a
32	ELF1	chr5:104728572-104728937	HepG2	liver:	n/a	n/a
33	ELF1	chr5:104728406-104728965	K562	blood:	n/a	n/a
34	ELK1	chr5:104728596-104728947	K562	blood:	n/a	n/a
35	EP300	chr5:104724171-104724744	MCF-7	breast:	n/a	n/a
36	EP300	chr5:104728503-104728971	K562	blood:	n/a	n/a
37	EP300	chr5:104728530-104728887	GM12878	blood:	n/a	n/a
38	ESR1	chr5:104724177-104724588	T-47D	breast:	n/a	n/a
39	ESR1	chr5:104724183-104724603	T-47D	breast:	n/a	n/a
40	ESR1	chr5:104724115-104724654	T-47D	breast:	n/a	n/a
41	ESR1	chr5:104724187-104724600	T-47D	breast:	n/a	n/a
42	ESR1	chr5:104724226-104724609	T-47D	breast:	n/a	n/a
43	FAM48A	chr5:104722631-104722725	GM12878	blood:	n/a	n/a
44	FOS	chr5:104692219-104692231	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr5:104728563-104728928	K562	blood:	n/a	n/a
46	FOXA1	chr5:104724078-104724629	T-47D	breast:	n/a	n/a
47	FOXA1	chr5:104724125-104724563	HepG2	liver:	n/a	n/a
48	FOXA1	chr5:104724204-104724550	T-47D	breast:	n/a	n/a
49	GABPA	chr5:104728038-104729066	K562	blood:	n/a	n/a
50	GABPA	chr5:104728547-104728909	K562	blood:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:104728427-104728477	HMEC	breast:	n/a
2	chr5:104728427-104728477	HMEC	breast:	n/a
3	chr5:104728427-104728477	GM12891	blood:	n/a
4	chr5:104728220-104728270	HCPEpiC	choroid plexus:	n/a
5	chr5:104728220-104728270	RPTEC	kidney:	n/a
6	chr5:104728220-104728270	AG09319	gingival:	n/a
7	chr5:104728427-104728477	HUVEC	blood vessel:	n/a
8	chr5:104728427-104728477	HL-60	blood:	n/a
9	chr5:104728427-104728477	AoSMC	blood vessel:	n/a
10	chr5:104728220-104728270	HMEC	breast:	n/a
11	chr5:104728220-104728270	A549	lung:	n/a
12	chr5:104728220-104728270	SK-N-SH	brain:	n/a
13	chr5:104728427-104728477	HepG2	liver:	n/a
14	chr5:104728427-104728477	Jurkat	blood:	n/a
15	chr5:104728427-104728477	NH-A	brain:	n/a
16	chr5:104728220-104728270	ECC-1	luminal epithelium:	n/a
17	chr5:104728427-104728477	GM12892	blood:	n/a
18	chr5:104728427-104728477	PANC-1	pancreas:	n/a
19	chr5:104728220-104728270	SKMC	muscle:	n/a
20	chr5:104728427-104728477	GM19239	blood:	n/a
21	chr5:104728220-104728270	NB4	blood:	n/a
22	chr5:104728220-104728270	AG09309	skin:	n/a
23	chr5:104728220-104728270	GM12891	blood:	n/a
24	chr5:104728427-104728477	GM12878	blood:	n/a
25	chr5:104728427-104728477	SK-N-MC	brain:	n/a
26	chr5:104728220-104728270	HEK293	kidney:	embryo
27	chr5:104728427-104728477	BJ	skin:	n/a
28	chr5:104728220-104728270	PrEC	prostate:	n/a
29	chr5:104728427-104728477	AG04450	lung:	fetal
30	chr5:104728427-104728477	HNPCEpiC	eye:	n/a
31	chr5:104728427-104728477	HPAEpiC	pulmonary alveolar:	n/a
32	chr5:104728427-104728477	Hepatocyte	liver:	n/a
33	chr5:104728427-104728477	K562	blood:	n/a
34	chr5:104728220-104728270	LNCaP	prostate:	n/a
35	chr5:104728427-104728477	IMR90	lung:	fetal
36	chr5:104728220-104728270	AG04449	skin:	fetal
37	chr5:104728427-104728477	AG09309	skin:	n/a
38	chr5:104728220-104728270	HepG2	liver:	n/a
39	chr5:104728427-104728477	PFSK-1	brain:	n/a
40	chr5:104728220-104728270	HIPEpiC	eye:	n/a
41	chr5:104728427-104728477	HRE	kidney:	n/a
42	chr5:104728220-104728270	AoSMC	blood vessel:	n/a
43	chr5:104728427-104728477	SKMC	muscle:	n/a
44	chr5:104728220-104728270	U87	brain:	n/a
45	chr5:104728427-104728477	NT2-D1	testis:	n/a
46	chr5:104728220-104728270	HPAEpiC	pulmonary alveolar:	n/a
47	chr5:104728220-104728270	HCF	heart:	n/a
48	chr5:104728220-104728270	ProgFib	skin:	n/a
49	chr5:104728220-104728270	K562	blood:	n/a
50	chr5:104728220-104728270	HRCEpiC	kidney:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:104722652..104724763-chr5:104741861..104743629,2	K562	blood:
2	chr5:104679097..104680828-chr5:104708980..104711591,2	K562	blood:
3	chr5:104726359..104728666-chr5:105131284..105132821,2	K562	blood:
4	chr5:104710520..104712024-chr5:104741469..104744150,2	K562	blood:
5	chr5:104726534..104729492-chr5:107716153..107718681,2	K562	blood:
6	chr5:104686842..104688917-chr5:104691899..104693400,2	K562	blood:
7	chr5:104679097..104680828-chr5:104708980..104711591,2	K562	blood:
8	chr5:104682989..104685447-chr5:104726579..104728705,2	K562	blood:
9	chr5:104712112..104715391-chr5:104727182..104729595,3	K562	blood:
10	chr5:104729079..104730844-chr5:104733038..104734650,2	K562	blood:
11	chr5:104682524..104684533-chr5:104692732..104695457,2	MCF-7	breast:
12	chr5:104716167..104718489-chr5:104728063..104729895,2	K562	blood:
13	chr5:104686842..104688917-chr5:104691899..104693400,2	K562	blood:
14	chr5:104711472..104715081-chr5:104725603..104729958,5	K562	blood:
15	chr5:104682524..104684533-chr5:104692732..104695457,2	MCF-7	breast:
16	chr5:104723018..104724952-chr5:104737690..104739211,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT12-7	chr5:104728462-104728989	NONHSAT103097
2	lnc-NUDT12-6	chr5:104728462-104728671	ENSG00000251574

No data

Variant related genes	Relation type
ENSG00000251574	TF binding region
ENSG00000251574	CpG island
ENSG00000251574	chromatin interactions
ENSG00000145743	chromatin interactions

Extended variants
information (count: 757 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:757 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73196626	chr5:104683010-104683011	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs80269696	chr5:104683046-104683047	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs115483760	chr5:104683051-104683052	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs143668315	chr5:104683094-104683095	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs542328608	chr5:104683097-104683098	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs559885340	chr5:104683115-104683116	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs182062024	chr5:104683138-104683139	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs528627711	chr5:104683142-104683143	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs561158138	chr5:104683207-104683208	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs147164889	chr5:104683224-104683225	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs574142383	chr5:104683299-104683300	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs184769806	chr5:104683317-104683318	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs571569443	chr5:104683342-104683343	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs189402498	chr5:104683354-104683355	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs533224167	chr5:104683366-104683367	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs549807347	chr5:104683376-104683377	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs182007735	chr5:104683384-104683385	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs2455172	chr5:104683489-104683490	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs13183666	chr5:104683518-104683519	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs142673952	chr5:104683525-104683526	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs368730476	chr5:104683529-104683530	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs185277564	chr5:104683534-104683535	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs577570297	chr5:104683540-104683541	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs191069980	chr5:104683679-104683680	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs557362546	chr5:104683680-104683681	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs181104143	chr5:104683795-104683796	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs543224491	chr5:104683807-104683808	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs560024382	chr5:104683838-104683839	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs186656965	chr5:104683852-104683853	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs545537940	chr5:104683944-104683945	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs565234284	chr5:104683951-104683952	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs530818142	chr5:104684013-104684014	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs191451870	chr5:104684038-104684039	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs182842408	chr5:104684041-104684042	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs529177212	chr5:104684074-104684075	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs548750817	chr5:104684102-104684103	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs60283946	chr5:104684133-104684134	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs534369227	chr5:104684149-104684150	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs557577920	chr5:104684165-104684166	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs545706749	chr5:104684212-104684213	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs571361831	chr5:104684219-104684220	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs536640788	chr5:104684254-104684255	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs556946618	chr5:104684274-104684275	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs574237688	chr5:104684284-104684285	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs536964717	chr5:104684322-104684323	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs553579338	chr5:104684329-104684330	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs564377349	chr5:104684331-104684332	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs545474700	chr5:104684405-104684406	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs7715066	chr5:104684427-104684428	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs144455058	chr5:104684465-104684466	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Myelofibrosis	22110671	CNVD
Obesity	20622171	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104686200-104686400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:104686400-104689000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:104715600-104716800	Enhancers	Fetal Brain Male	brain
4	chr5:104722000-104722200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:104722200-104722600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr5:104722200-104722800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:104722200-104723200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr5:104722400-104723400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr5:104722400-104723600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:104722600-104723000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr5:104724800-104725800	Enhancers	K562	blood
12	chr5:104725800-104726400	Weak transcription	K562	blood
13	chr5:104726400-104729200	Active TSS	K562	blood
14	chr5:104727400-104727600	Enhancers	Placenta	Placenta
15	chr5:104727600-104727800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:104727600-104728000	Flanking Active TSS	Placenta	Placenta
17	chr5:104727600-104729000	Active TSS	HepG2	liver
18	chr5:104727800-104728000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:104727800-104728600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:104728000-104728400	Active TSS	Placenta	Placenta
21	chr5:104728400-104728800	ZNF genes & repeats	Placenta	Placenta

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