Variant report

Variant	nsv880289
Chromosome Location	chr4:175412975-175437117
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	CEBPB	chr4:175424559-175424638	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr4:175434240-175434498	IMR90	lung:	n/a	chr4:175434386-175434395 chr4:175434272-175434284 chr4:175434385-175434396
3	CEBPB	chr4:175434253-175434461	K562	blood:	n/a	chr4:175434386-175434395 chr4:175434272-175434284 chr4:175434385-175434396
4	CEBPB	chr4:175434271-175434535	HepG2	liver:	n/a	chr4:175434386-175434395 chr4:175434272-175434284 chr4:175434385-175434396
5	CEBPB	chr4:175424487-175424860	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr4:175434363-175434393	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr4:175424532-175424746	K562	blood:	n/a	n/a
8	EP300	chr4:175424222-175424736	Hela-S3	cervix:	n/a	chr4:175424464-175424471
9	EP300	chr4:175417633-175418351	A549	lung:	n/a	chr4:175418319-175418328
10	EP300	chr4:175417704-175418200	A549	lung:	n/a	n/a
11	FOS	chr4:175429996-175430178	MCF10A-Er-Src	breast:	n/a	chr4:175430093-175430103
12	FOS	chr4:175423790-175424604	MCF10A-Er-Src	breast:	n/a	chr4:175423928-175423936 chr4:175423927-175423937 chr4:175423927-175423937 chr4:175423927-175423937
13	FOS	chr4:175423817-175424688	MCF10A-Er-Src	breast:	n/a	chr4:175423928-175423936 chr4:175423927-175423937 chr4:175423927-175423937 chr4:175423927-175423937
14	FOS	chr4:175423801-175424704	MCF10A-Er-Src	breast:	n/a	chr4:175423928-175423936 chr4:175423927-175423937 chr4:175423927-175423937 chr4:175423927-175423937
15	FOS	chr4:175424246-175424575	MCF10A-Er-Src	breast:	n/a	n/a
16	FOSL2	chr4:175417701-175418216	A549	lung:	n/a	chr4:175417767-175417778
17	FOXA2	chr4:175417755-175418101	A549	lung:	n/a	n/a
18	FOXA2	chr4:175417661-175418234	A549	lung:	n/a	n/a
19	HMGN3	chr4:175426128-175426441	K562	blood:	n/a	n/a
20	IRF1	chr4:175418514-175418834	K562	blood:	n/a	n/a
21	IRF1	chr4:175418549-175418749	K562	blood:	n/a	n/a
22	JUN	chr4:175416066-175416095	H1-hESC	embryonic stem cell:	n/a	n/a
23	JUN	chr4:175434125-175434217	K562	blood:	n/a	n/a
24	JUN	chr4:175429908-175429978	H1-hESC	embryonic stem cell:	n/a	n/a
25	JUND	chr4:175417788-175418112	A549	lung:	n/a	n/a
26	KAP1	chr4:175431094-175431326	K562	blood:	n/a	n/a
27	MAFF	chr4:175429769-175430034	K562	blood:	n/a	n/a
28	MAFK	chr4:175416125-175416135	Hela-S3	cervix:	n/a	n/a
29	MAFK	chr4:175429784-175429984	HepG2	liver:	n/a	chr4:175429889-175429904
30	MAFK	chr4:175429797-175429952	K562	blood:	n/a	chr4:175429889-175429904
31	MAFK	chr4:175429849-175429956	HepG2	liver:	n/a	chr4:175429889-175429904
32	MAFK	chr4:175435954-175435989	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr4:175427257-175427429	Hela-S3	cervix:	n/a	n/a
34	MYC	chr4:175424819-175424838	NB4	blood:	n/a	n/a
35	MYC	chr4:175417787-175417805	MCF10A-Er-Src	breast:	n/a	n/a
36	MYC	chr4:175424368-175424634	MCF10A-Er-Src	breast:	n/a	n/a
37	MYC	chr4:175424288-175424488	MCF10A-Er-Src	breast:	n/a	n/a
38	NR2F2	chr4:175417728-175418102	MCF-7	breast:	n/a	n/a
39	POLR2A	chr4:175416684-175416831	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr4:175419108-175419197	A549	lung:	n/a	n/a
41	POLR2A	chr4:175434105-175434226	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr4:175422681-175422876	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr4:175430790-175430913	GM12878	blood:	n/a	n/a
44	POLR2A	chr4:175422357-175422557	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr4:175426367-175426403	Gliobla	brain:	n/a	n/a
46	RFX5	chr4:175414670-175414791	K562	blood:	n/a	n/a
47	SP1	chr4:175417686-175418353	A549	lung:	n/a	n/a
48	SP1	chr4:175417693-175418257	A549	lung:	n/a	n/a
49	SPI1	chr4:175423198-175423558	HL-60	blood:	n/a	chr4:175423420-175423433 chr4:175423422-175423431 chr4:175423421-175423434
50	STAT3	chr4:175424520-175424691	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:175410591..175412440-chr4:175417791..175419375,2	K562	blood:
2	chr4:175428257..175430078-chr4:175431742..175433720,2	K562	blood:
3	chr4:175420852..175423777-chr4:175440918..175443642,2	K562	blood:
4	chr4:175428257..175430078-chr4:175431742..175433720,2	K562	blood:
5	chr4:175429876..175431764-chr4:175434191..175436356,2	K562	blood:
6	chr4:175429876..175431764-chr4:175434191..175436356,2	K562	blood:
7	chr4:175380095..175381836-chr4:175431748..175433651,2	K562	blood:

Variant related genes	Relation type
HPGD	TF binding region
ENSG00000164120	chromatin interactions

Extended variants
information (count: 889 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:889 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2253170	chr4:175412975-175412976	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542884307	chr4:175412976-175412977	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186313653	chr4:175413012-175413013	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs45522334	chr4:175413020-175413021	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544989121	chr4:175413040-175413041	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376494010	chr4:175413048-175413049	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112738356	chr4:175413050-175413051	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201828747	chr4:175413066-175413067	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377267677	chr4:175413076-175413077	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11548753	chr4:175413079-175413080	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370038477	chr4:175413102-175413103	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35657904	chr4:175413114-175413115	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34394742	chr4:175413130-175413131	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs151167308	chr4:175413148-175413149	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533197005	chr4:175413171-175413172	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200576175	chr4:175413187-175413188	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs117270501	chr4:175413228-175413229	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191209129	chr4:175413261-175413262	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs77000401	chr4:175413275-175413276	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs180786088	chr4:175413276-175413277	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs17060532	chr4:175413296-175413297	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs140730286	chr4:175413317-175413318	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552773249	chr4:175413399-175413400	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551824265	chr4:175413493-175413494	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571201412	chr4:175413506-175413507	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs17060537	chr4:175413531-175413532	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs553896846	chr4:175413547-175413548	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75549649	chr4:175413554-175413555	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150108571	chr4:175413573-175413574	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544792257	chr4:175413574-175413575	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370533094	chr4:175413605-175413606	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576191773	chr4:175413608-175413609	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558413488	chr4:175413619-175413620	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1816204	chr4:175413644-175413645	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs187610986	chr4:175413651-175413652	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540192041	chr4:175413765-175413766	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560115283	chr4:175413827-175413828	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190941315	chr4:175413834-175413835	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs45486996	chr4:175413862-175413863	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs543872533	chr4:175413908-175413909	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535460302	chr4:175413920-175413921	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs45498507	chr4:175413928-175413929	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs531841603	chr4:175414042-175414043	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183132153	chr4:175414193-175414194	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs41279511	chr4:175414202-175414203	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs528001126	chr4:175414205-175414206	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547372175	chr4:175414232-175414233	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs13126570	chr4:175414234-175414235	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs2612694	chr4:175414246-175414247	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs549929149	chr4:175414248-175414249	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175396000-175442800	Weak transcription	Esophagus	oesophagus
2	chr4:175406800-175415200	Weak transcription	Fetal Intestine Large	intestine
3	chr4:175406800-175415800	Weak transcription	Fetal Intestine Small	intestine
4	chr4:175407000-175415000	Weak transcription	Primary T cells from cord blood	blood
5	chr4:175409200-175415000	Weak transcription	Fetal Thymus	thymus
6	chr4:175409400-175424000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr4:175410000-175424600	Weak transcription	Fetal Stomach	stomach
8	chr4:175410000-175440800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:175410400-175418000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr4:175410800-175417400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr4:175410800-175420800	Weak transcription	Lung	lung
12	chr4:175410800-175425400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:175410800-175430800	Weak transcription	Gastric	stomach
14	chr4:175410800-175440000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr4:175411000-175418200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr4:175411600-175416600	Weak transcription	Colon Smooth Muscle	Colon
17	chr4:175412000-175428400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr4:175412200-175413800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr4:175412400-175413800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr4:175412400-175417800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:175412600-175414400	Enhancers	A549	lung
22	chr4:175412600-175415000	Weak transcription	Stomach Mucosa	stomach
23	chr4:175412600-175418000	Weak transcription	Hela-S3	cervix
24	chr4:175412600-175418400	Strong transcription	Placenta	Placenta
25	chr4:175412800-175414400	Strong transcription	Duodenum Mucosa	Duodenum
26	chr4:175412800-175417200	Strong transcription	Liver	Liver
27	chr4:175412800-175418200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:175413800-175415400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr4:175413800-175416000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:175413800-175416400	Strong transcription	Primary hematopoietic stem cells	blood
31	chr4:175413800-175418200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr4:175414200-175417200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:175414400-175415400	Weak transcription	A549	lung
34	chr4:175414400-175416000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr4:175414400-175419000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr4:175414400-175428200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr4:175414600-175419000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr4:175415000-175415200	Enhancers	Stomach Mucosa	stomach
39	chr4:175415000-175416200	Strong transcription	Primary T cells from cord blood	blood
40	chr4:175415000-175416600	Strong transcription	Fetal Thymus	thymus
41	chr4:175415200-175415600	Weak transcription	Stomach Mucosa	stomach
42	chr4:175415200-175416000	Enhancers	Small Intestine	intestine
43	chr4:175415200-175416400	Genic enhancers	Fetal Intestine Large	intestine
44	chr4:175415400-175416200	Strong transcription	A549	lung
45	chr4:175415400-175424000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr4:175415600-175427600	Enhancers	Stomach Mucosa	stomach
47	chr4:175415800-175416200	Enhancers	Fetal Intestine Small	intestine
48	chr4:175415800-175416600	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr4:175416000-175416400	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr4:175416000-175416400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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