Variant report

Variant	nsv881334
Chromosome Location	chr4:171713039-171842726
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	ATF2	chr4:171771107-171771511	GM12878	blood:	n/a	n/a
2	BCLAF1	chr4:171774566-171774975	GM12878	blood:	n/a	n/a
3	BHLHE40	chr4:171774503-171774864	GM12878	blood:	n/a	n/a
4	BRCA1	chr4:171774755-171774909	GM12878	blood:	n/a	n/a
5	CEBPB	chr4:171816037-171816298	K562	blood:	n/a	n/a
6	CEBPB	chr4:171793346-171793640	HepG2	liver:	n/a	chr4:171793499-171793510
7	CEBPB	chr4:171760418-171760618	A549	lung:	n/a	n/a
8	CEBPB	chr4:171773373-171773743	HepG2	liver:	n/a	chr4:171773569-171773580 chr4:171773550-171773563 chr4:171773550-171773561
9	CEBPB	chr4:171748396-171748675	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr4:171806389-171806709	K562	blood:	n/a	chr4:171806543-171806552 chr4:171806542-171806553 chr4:171806543-171806552 chr4:171806543-171806552 chr4:171806541-171806554 chr4:171806543-171806552
11	CEBPB	chr4:171806379-171806708	HepG2	liver:	n/a	chr4:171806543-171806552 chr4:171806542-171806553 chr4:171806543-171806552 chr4:171806543-171806552 chr4:171806541-171806554 chr4:171806543-171806552
12	CEBPB	chr4:171773389-171773744	A549	lung:	n/a	chr4:171773569-171773580 chr4:171773550-171773563 chr4:171773550-171773561
13	CEBPB	chr4:171816014-171816270	A549	lung:	n/a	n/a
14	CEBPB	chr4:171773479-171773681	H1-hESC	embryonic stem cell:	n/a	chr4:171773569-171773580 chr4:171773550-171773563 chr4:171773550-171773561
15	CEBPB	chr4:171806473-171806696	A549	lung:	n/a	chr4:171806543-171806552 chr4:171806542-171806553 chr4:171806543-171806552 chr4:171806543-171806552 chr4:171806541-171806554 chr4:171806543-171806552
16	CEBPB	chr4:171806370-171806728	IMR90	lung:	n/a	chr4:171806543-171806552 chr4:171806542-171806553 chr4:171806543-171806552 chr4:171806543-171806552 chr4:171806541-171806554 chr4:171806543-171806552
17	CEBPB	chr4:171816065-171816272	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr4:171793380-171793648	IMR90	lung:	n/a	chr4:171793499-171793510
19	CEBPB	chr4:171806269-171806736	H1-hESC	embryonic stem cell:	n/a	chr4:171806543-171806552 chr4:171806542-171806553 chr4:171806543-171806552 chr4:171806543-171806552 chr4:171806541-171806554 chr4:171806543-171806552
20	CEBPB	chr4:171815988-171816327	IMR90	lung:	n/a	n/a
21	CEBPB	chr4:171749009-171749469	Hela-S3	cervix:	n/a	chr4:171749275-171749288 chr4:171749277-171749288 chr4:171749277-171749288
22	CEBPB	chr4:171773386-171773730	IMR90	lung:	n/a	chr4:171773569-171773580 chr4:171773550-171773563 chr4:171773550-171773561
23	CEBPB	chr4:171834365-171834565	HepG2	liver:	n/a	chr4:171834468-171834479
24	CTCF	chr4:171797112-171797347	MCF-7	breast:	n/a	n/a
25	CTCF	chr4:171760489-171760592	GM12878	blood:	n/a	chr4:171760538-171760546
26	CTCF	chr4:171774680-171774830	HBMEC	blood vessel:	n/a	chr4:171774756-171774772
27	CTCF	chr4:171774591-171774921	ECC-1	luminal epithelium:	n/a	chr4:171774756-171774772
28	CTCF	chr4:171774627-171774920	K562	blood:	n/a	chr4:171774756-171774772
29	CTCF	chr4:171774660-171774810	HVMF	connective:	n/a	chr4:171774756-171774772
30	CTCF	chr4:171774680-171774830	HepG2	liver:	n/a	chr4:171774756-171774772
31	CTCF	chr4:171797040-171797190	A549	lung:	n/a	n/a
32	CTCF	chr4:171774632-171774899	GM12892	blood:	n/a	chr4:171774756-171774772
33	CTCF	chr4:171774630-171774902	HepG2	liver:	n/a	chr4:171774756-171774772
34	CTCF	chr4:171726537-171726860	MCF-7	breast:	n/a	n/a
35	CTCF	chr4:171774700-171774850	HCT-116	colon:	n/a	chr4:171774756-171774772
36	CTCF	chr4:171774720-171774870	NHDF-neo	bronchial:	n/a	chr4:171774756-171774772
37	CTCF	chr4:171774680-171774830	HRE	kidney:	n/a	chr4:171774756-171774772
38	CTCF	chr4:171774680-171774830	GM12801	blood:	n/a	chr4:171774756-171774772
39	CTCF	chr4:171796960-171797110	HAc	cerebellar:	n/a	n/a
40	CTCF	chr4:171774720-171774870	GM12870	blood:	n/a	chr4:171774756-171774772
41	CTCF	chr4:171774586-171774932	IMR90	lung:	n/a	chr4:171774756-171774772
42	CTCF	chr4:171774686-171774874	HUVEC	blood vessel:	n/a	chr4:171774756-171774772
43	CTCF	chr4:171774680-171774830	GM12866	blood:	n/a	chr4:171774756-171774772
44	CTCF	chr4:171774653-171774875	Pancreas_OC	pancreas:	n/a	chr4:171774756-171774772
45	CTCF	chr4:171774680-171774830	SAEC	small airway:	n/a	chr4:171774756-171774772
46	CTCF	chr4:171797188-171797270	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr4:171774557-171774866	ECC-1	luminal epithelium:	n/a	chr4:171774756-171774772
48	CTCF	chr4:171774560-171774710	AG04450	lung:	n/a	n/a
49	CTCF	chr4:171774516-171774944	HCT-116	colon:	n/a	chr4:171774756-171774772
50	CTCF	chr4:171774740-171774890	HFF	foreskin:	n/a	chr4:171774756-171774772

No.	Distal block	Cell Line	Cell type
1	chr4:171510598..171511665-chr4:171774140..171775062,4	MCF-7	breast:
2	chr4:171180877..171181395-chr4:171774315..171774893,2	MCF-7	breast:
3	chr4:171722091..171723639-chr4:171731576..171734168,2	MCF-7	breast:
4	chr4:171510370..171511381-chr4:171774385..171775274,7	MCF-7	breast:
5	chr4:171739438..171741940-chr4:171744018..171745762,2	K562	blood:
6	chr4:171755644..171758176-chr4:171761937..171764529,2	MCF-7	breast:
7	chr4:171180843..171181414-chr4:171796793..171797591,2	MCF-7	breast:
8	chr4:171722091..171723639-chr4:171731576..171734168,2	MCF-7	breast:
9	chr4:171836658..171838805-chr4:171839707..171841638,2	MCF-7	breast:
10	chr4:171671477..171672293-chr4:171774330..171775293,5	MCF-7	breast:
11	chr4:171755644..171758176-chr4:171761937..171764529,2	MCF-7	breast:
12	chr4:171836658..171838805-chr4:171839707..171841638,2	MCF-7	breast:
13	chr4:171742755..171745728-chr4:171748600..171750384,2	MCF-7	breast:
14	chr4:171739438..171741940-chr4:171744018..171745762,2	K562	blood:
15	chr4:171742755..171745728-chr4:171748600..171750384,2	MCF-7	breast:
16	chr4:171510421..171511267-chr4:171775848..171776873,4	MCF-7	breast:
17	chr4:171797098..171797633-chr4:172706232..172706905,2	MCF-7	breast:
18	chr4:171796784..171797466-chr4:172107812..172108701,2	MCF-7	breast:
19	chr4:171718644..171721578-chr4:171722752..171725551,2	K562	blood:
20	chr4:171718644..171721578-chr4:171722752..171725551,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AADAT-11	chr4:171735490-171735699	NONHSAT099191

Variant related genes	Relation type
ENSG00000249943	TF binding region
RNU6ATAC13P	TF binding region

Extended variants
information (count: 1882 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1882 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529400770	chr4:171726203-171726204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369012587	chr4:171726237-171726238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550671341	chr4:171726281-171726282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554909573	chr4:171726286-171726287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373799178	chr4:171726305-171726306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111517436	chr4:171726321-171726322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112285306	chr4:171726324-171726325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566693721	chr4:171726343-171726344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564202454	chr4:171726366-171726367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534087670	chr4:171726372-171726373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538161299	chr4:171735527-171735528	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs565154297	chr4:171735563-171735564	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs189283474	chr4:171735567-171735568	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs557743947	chr4:171735571-171735572	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs540809734	chr4:171735588-171735589	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs17056210	chr4:171735611-171735612	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs529733892	chr4:171735665-171735666	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs146758517	chr4:171735681-171735682	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs528054879	chr4:171736816-171736817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs201886009	chr4:171736846-171736847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs386682020	chr4:171736847-171736848	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs1304904	chr4:171736848-171736849	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs530350087	chr4:171736865-171736866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs548752237	chr4:171736898-171736899	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs570094555	chr4:171736966-171736967	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs180902069	chr4:171736967-171736968	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs552348834	chr4:171736998-171736999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs370510178	chr4:171737048-171737049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs113024244	chr4:171737069-171737070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs570526984	chr4:171737088-171737089	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs186255220	chr4:171737089-171737090	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs549533241	chr4:171737182-171737183	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs72984174	chr4:171737188-171737189	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs72698830	chr4:171737263-171737264	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs535332292	chr4:171737293-171737294	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs111790560	chr4:171737336-171737337	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs144384980	chr4:171737337-171737338	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs138428480	chr4:171737348-171737349	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs113453863	chr4:171737388-171737389	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs570731679	chr4:171737395-171737396	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs539390463	chr4:171737426-171737427	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs533791710	chr4:171737438-171737439	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs557855162	chr4:171737441-171737442	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs572899548	chr4:171737442-171737443	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs372467477	chr4:171737460-171737461	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs540213902	chr4:171737547-171737548	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs183506634	chr4:171737583-171737584	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs551659390	chr4:171739417-171739418	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs184753831	chr4:171739461-171739462	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs527454432	chr4:171739462-171739463	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Developmental delay	22127048	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:171726200-171726400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:171736800-171737600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
3	chr4:171741200-171744000	Weak transcription	Stomach Mucosa	stomach
4	chr4:171744400-171748400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:171748200-171749200	Enhancers	HMEC	breast
6	chr4:171748400-171749000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:171760400-171760800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:171760800-171761200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:171766200-171767000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:171770800-171771200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:171771000-171771400	Enhancers	HMEC	breast
12	chr4:171771000-171771800	Enhancers	GM12878-XiMat	blood
13	chr4:171771200-171774800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:171773000-171773400	Enhancers	Placenta Amnion	Placenta Amnion
15	chr4:171774800-171775600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:171787000-171787400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:171787400-171789200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:171789200-171790200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:171789200-171790200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:171789200-171790200	Enhancers	HMEC	breast
21	chr4:171789200-171790400	Enhancers	NHEK	skin
22	chr4:171789400-171790000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:171789600-171790600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:171790200-171793000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:171790200-171793400	Weak transcription	HMEC	breast
26	chr4:171790200-171793600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:171790400-171791600	Weak transcription	NHEK	skin
28	chr4:171790600-171793200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:171791600-171791800	Enhancers	NHEK	skin
30	chr4:171791800-171792200	Weak transcription	NHEK	skin
31	chr4:171792200-171792400	Enhancers	NHEK	skin
32	chr4:171792400-171793800	Weak transcription	NHEK	skin
33	chr4:171793000-171793600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:171793200-171793600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:171793400-171794600	Enhancers	HMEC	breast
36	chr4:171793600-171793800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:171793600-171809200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:171793800-171794200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:171793800-171794800	Enhancers	NHEK	skin
40	chr4:171794200-171794800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:171802400-171803200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:171802400-171803400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:171802600-171805400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:171805000-171806600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr4:171805000-171807400	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr4:171805400-171806600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:171805600-171806600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr4:171805600-171806600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr4:171805600-171807000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr4:171805800-171806800	Enhancers	HUES48 Cell Line	embryonic stem cell

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