Variant report

Variant	nsv1032035
Chromosome Location	chr4:131792421-131986752
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	ARID3A	chr4:131963666-131963672	K562	blood:	n/a	n/a
2	CBX3	chr4:131932433-131932625	K562	blood:	n/a	n/a
3	CEBPB	chr4:131922319-131922517	HepG2	liver:	n/a	chr4:131922434-131922445
4	CEBPB	chr4:131894423-131894644	HepG2	liver:	n/a	chr4:131894545-131894556
5	CEBPB	chr4:131894415-131894712	A549	lung:	n/a	chr4:131894545-131894556
6	CEBPB	chr4:131897512-131897842	A549	lung:	n/a	chr4:131897581-131897598
7	CEBPB	chr4:131922396-131922473	H1-hESC	embryonic stem cell:	n/a	chr4:131922434-131922445
8	CEBPB	chr4:131959580-131959858	IMR90	lung:	n/a	chr4:131959710-131959721 chr4:131959709-131959722
9	CEBPB	chr4:131792883-131793162	HepG2	liver:	n/a	chr4:131793032-131793043
10	CEBPB	chr4:131922292-131922532	IMR90	lung:	n/a	chr4:131922434-131922445
11	CEBPB	chr4:131833574-131833748	A549	lung:	n/a	n/a
12	CEBPB	chr4:131798704-131798904	HepG2	liver:	n/a	chr4:131798793-131798806
13	CEBPB	chr4:131883527-131883568	K562	blood:	n/a	n/a
14	CEBPB	chr4:131897508-131897781	HepG2	liver:	n/a	chr4:131897581-131897598
15	CEBPB	chr4:131918512-131918725	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr4:131822194-131822459	HepG2	liver:	n/a	n/a
17	CEBPB	chr4:131959563-131959894	HepG2	liver:	n/a	chr4:131959710-131959721 chr4:131959709-131959722
18	CEBPB	chr4:131897463-131897736	H1-hESC	embryonic stem cell:	n/a	chr4:131897581-131897598
19	CTCF	chr4:131975872-131976025	H1-hESC	embryonic stem cell:	n/a	chr4:131975959-131975977 chr4:131975960-131975976
20	CTCF	chr4:131975880-131976030	GM12874	blood:	n/a	chr4:131975959-131975977 chr4:131975960-131975976
21	CTCF	chr4:131983180-131983330	RPTEC	kidney:	n/a	n/a
22	CTCF	chr4:131975860-131976010	HMEC	breast:	n/a	chr4:131975959-131975977 chr4:131975960-131975976
23	CTCF	chr4:131886580-131886730	WERI-Rb-1	eye:	n/a	n/a
24	CTCF	chr4:131852951-131852958	LNCaP	prostate:	n/a	n/a
25	CTCF	chr4:131975920-131976070	HCT-116	colon:	n/a	chr4:131975959-131975977 chr4:131975960-131975976
26	CTCF	chr4:131975930-131976056	Hela-S3	cervix:	n/a	chr4:131975959-131975977 chr4:131975960-131975976
27	CTCF	chr4:131975860-131976010	HCT-116	colon:	n/a	chr4:131975959-131975977 chr4:131975960-131975976
28	CTCF	chr4:131907676-131907749	Fibrobl	skin:	n/a	n/a
29	CTCF	chr4:131894160-131894310	HBMEC	blood vessel:	n/a	n/a
30	CTCF	chr4:131852840-131852990	HMEC	breast:	n/a	chr4:131852942-131852963
31	CTCF	chr4:131975840-131975990	GM12873	blood:	n/a	chr4:131975959-131975977 chr4:131975960-131975976
32	CTCF	chr4:131975860-131976010	NHEK	skin:	n/a	chr4:131975959-131975977 chr4:131975960-131975976
33	CTCF	chr4:131886700-131886850	GM12872	blood:	n/a	n/a
34	CTCF	chr4:131975880-131976030	A549	lung:	n/a	chr4:131975959-131975977 chr4:131975960-131975976
35	CTCF	chr4:131852980-131853130	BE2_C	brain:	n/a	n/a
36	CTCF	chr4:131975942-131975973	LNCaP	prostate:	n/a	n/a
37	CTCF	chr4:131975903-131976039	MCF-7	breast:	n/a	chr4:131975959-131975977 chr4:131975960-131975976
38	CTCF	chr4:131886602-131886714	GM12878	blood:	n/a	n/a
39	CTCF	chr4:131975912-131976059	NHEK	skin:	n/a	chr4:131975959-131975977 chr4:131975960-131975976
40	CTCF	chr4:131975876-131976064	GM19238	blood:	n/a	chr4:131975959-131975977 chr4:131975960-131975976
41	CTCF	chr4:131927760-131927910	MCF-7	breast:	n/a	n/a
42	CTCF	chr4:131976591-131976621	Medullo	brain:	n/a	n/a
43	CTCF	chr4:131975860-131976010	HepG2	liver:	n/a	chr4:131975959-131975977 chr4:131975960-131975976
44	CTCF	chr4:131886540-131886690	GM12865	blood:	n/a	n/a
45	CTCF	chr4:131885240-131885317	GM20000	blood:	n/a	n/a
46	CTCF	chr4:131975804-131976078	H1-hESC	embryonic stem cell:	n/a	chr4:131975959-131975977 chr4:131975960-131975976
47	CTCF	chr4:131886601-131886631	HepG2	liver:	n/a	n/a
48	CTCF	chr4:131975806-131976071	MCF-7	breast:	n/a	chr4:131975959-131975977 chr4:131975960-131975976
49	CTCF	chr4:131976027-131976031	GM12891	blood:	n/a	n/a
50	CTCF	chr4:131975860-131976010	GM12865	blood:	n/a	chr4:131975959-131975977 chr4:131975960-131975976

No.	Distal block	Cell Line	Cell type
1	chr4:3075352..3076921-chr4:131867632..131869317,2	MCF-7	breast:
2	chr15:72524014..72524697-chr4:131897075..131897575,2	Hela-S3	cervix:
3	chr4:131787802..131789494-chr4:131815779..131818629,2	MCF-7	breast:
4	chr4:131891594..131894034-chr4:131900622..131902132,2	K562	blood:
5	chr4:131891594..131894034-chr4:131900622..131902132,2	K562	blood:
6	chr4:131949917..131952007-chr4:131958103..131960574,2	K562	blood:
7	chr4:131949917..131952007-chr4:131958103..131960574,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-62N21.1.1-7	chr4:131806684-131806796	XLOC_004076
2	lnc-RP11-62N21.1.1-7	chr4:131802182-131802502	XLOC_004076

Variant related genes	Relation type
ENSG00000250503	TF binding region
ENSG00000067225	chromatin interactions
ENSG00000197386	chromatin interactions
ENSG00000251075	chromatin interactions
ZNF747	miRNA target sites
PODN	miRNA target sites

Extended variants
information (count: 1222 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1222 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575463153	chr4:131802215-131802216	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs544525996	chr4:131802231-131802232	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs368151044	chr4:131802238-131802239	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs10023162	chr4:131802275-131802276	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs565517473	chr4:131802295-131802296	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs113195863	chr4:131802317-131802318	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs540667783	chr4:131802335-131802336	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs145808339	chr4:131802348-131802349	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs35026951	chr4:131802351-131802352	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs560618763	chr4:131802352-131802353	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs532526720	chr4:131802362-131802363	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs552709599	chr4:131802371-131802372	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs17430282	chr4:131802454-131802455	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs147649474	chr4:131802483-131802484	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs548470208	chr4:131802484-131802485	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs568456593	chr4:131802494-131802495	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs187851305	chr4:131802498-131802499	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs556629020	chr4:131806692-131806693	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs188970972	chr4:131806698-131806699	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs181476882	chr4:131806705-131806706	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs552907247	chr4:131806753-131806754	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs560985831	chr4:131806767-131806768	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs573054523	chr4:131806788-131806789	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs544978995	chr4:131806793-131806794	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs113773423	chr4:131808093-131808094	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs185218392	chr4:131808140-131808141	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs371012072	chr4:131808153-131808154	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs566927448	chr4:131808187-131808188	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs140577494	chr4:131808190-131808191	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs546370860	chr4:131808198-131808199	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs566596965	chr4:131808201-131808202	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs536615734	chr4:131808531-131808532	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs538082158	chr4:131808865-131808866	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs554892811	chr4:131808898-131808899	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs538946975	chr4:131808913-131808914	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs117904750	chr4:131808938-131808939	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs537193969	chr4:131808939-131808940	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs554159791	chr4:131808973-131808974	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs149221040	chr4:131808994-131808995	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs57002200	chr4:131809077-131809078	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs186618583	chr4:131809736-131809737	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs17502554	chr4:131809746-131809747	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs535627874	chr4:131809753-131809754	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs191121169	chr4:131809757-131809758	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs148376227	chr4:131809768-131809769	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs183994373	chr4:131809780-131809781	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs370469295	chr4:131809786-131809787	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs188436374	chr4:131809811-131809812	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs564671665	chr4:131809833-131809834	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs576895697	chr4:131809849-131809850	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	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
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:131820600-131821400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:131828200-131828600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:131828200-131829000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr4:131856600-131856800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr4:131856600-131857800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr4:131856800-131857600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:131857600-131858400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:131885200-131885800	Active TSS	Fetal Heart	heart
9	chr4:131885800-131887600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:131886400-131887200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:131887200-131890200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:131890400-131890600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:131894200-131894600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr4:131894200-131894600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr4:131894200-131894600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:131906200-131907600	Enhancers	HUVEC	blood vessel
17	chr4:131906600-131906800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr4:131906600-131907000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr4:131906600-131907000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:131915200-131915600	Enhancers	Fetal Kidney	kidney
21	chr4:131916600-131917600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr4:131918200-131918400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:131918600-131919400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr4:131918800-131919200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr4:131919000-131919800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:131919800-131923400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:131922200-131924000	Enhancers	HUVEC	blood vessel
28	chr4:131922600-131924200	Enhancers	NHEK	skin
29	chr4:131923400-131924000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:131931400-131932800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:131932000-131933000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:131932000-131933600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr4:131932800-131933600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:131933000-131933400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr4:131933400-131933600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr4:131933400-131933600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr4:131933400-131933800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr4:131933400-131933800	Enhancers	H1 Cell Line	embryonic stem cell
39	chr4:131933400-131933800	Enhancers	H9 Cell Line	embryonic stem cell
40	chr4:131933400-131933800	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr4:131933400-131935200	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr4:131933400-131935400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
43	chr4:131933400-131935800	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr4:131933600-131934000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
45	chr4:131933600-131934800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:131933600-131935000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr4:131933600-131935000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr4:131933800-131934800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr4:131933800-131934800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr4:131933800-131935000	Weak transcription	H1 Cell Line	embryonic stem cell

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