Variant report

Variant	nsv878743
Chromosome Location	chr4:20888436-20926819
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	chr4:20926759-20926809	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr4:20895249-20895335	GM10266	blood:	n/a	n/a
3	CTCF	chr4:20912316-20912408	Lung_OC	lung:	n/a	n/a
4	E2F4	chr4:20904678-20905009	MCF10A-Er-Src	breast:	n/a	n/a
5	E2F4	chr4:20890891-20891000	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr4:20893173-20893453	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr4:20893238-20893372	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr4:20893172-20893452	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr4:20892448-20892668	MCF10A-Er-Src	breast:	n/a	n/a
10	GATA3	chr4:20913732-20913745	SH-SY5Y	brain:	n/a	n/a
11	GATA3	chr4:20910322-20910644	SH-SY5Y	brain:	n/a	n/a
12	MAFF	chr4:20924638-20924943	K562	blood:	n/a	chr4:20924773-20924791
13	MAFF	chr4:20924613-20924962	HepG2	liver:	n/a	chr4:20924773-20924791
14	MAFK	chr4:20922076-20922250	HepG2	liver:	n/a	n/a
15	MAFK	chr4:20917017-20917095	HepG2	liver:	n/a	n/a
16	MAFK	chr4:20924720-20924919	K562	blood:	n/a	chr4:20924775-20924790
17	MAFK	chr4:20922076-20922255	HepG2	liver:	n/a	n/a
18	MAFK	chr4:20924680-20924833	Hela-S3	cervix:	n/a	chr4:20924775-20924790
19	MAFK	chr4:20924612-20924964	HepG2	liver:	n/a	chr4:20924775-20924790
20	MAFK	chr4:20924619-20924941	IMR90	lung:	n/a	chr4:20924775-20924790
21	MAFK	chr4:20924604-20924968	HepG2	liver:	n/a	chr4:20924775-20924790
22	MAFK	chr4:20924627-20924935	H1-hESC	embryonic stem cell:	n/a	chr4:20924775-20924790
23	MYC	chr4:20923775-20923834	K562	blood:	n/a	n/a
24	MYC	chr4:20907185-20907275	GM12878	blood:	n/a	n/a
25	POLR2A	chr4:20892380-20892782	H1-neurons	neurons:	n/a	n/a
26	POLR2A	chr4:20916818-20916879	ProgFib	skin:	n/a	n/a
27	POLR2A	chr4:20911008-20911276	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr4:20922743-20922929	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr4:20908263-20908317	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr4:20904300-20904397	GM12878	blood:	n/a	n/a
31	POLR2A	chr4:20890508-20890542	GM12878	blood:	n/a	n/a
32	POLR2A	chr4:20892438-20892736	H1-neurons	neurons:	n/a	n/a
33	POLR2A	chr4:20914894-20914970	MCF10A-Er-Src	breast:	n/a	n/a
34	REST	chr4:20919980-20920349	ECC-1	luminal epithelium:	n/a	chr4:20920157-20920177 chr4:20920162-20920171 chr4:20920158-20920176
35	STAT3	chr4:20893159-20893480	MCF10A-Er-Src	breast:	n/a	chr4:20893334-20893345
36	STAT3	chr4:20903471-20903624	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr4:20893158-20893521	MCF10A-Er-Src	breast:	n/a	chr4:20893334-20893345
38	STAT3	chr4:20893180-20893453	MCF10A-Er-Src	breast:	n/a	chr4:20893334-20893345
39	STAT3	chr4:20892471-20892473	MCF10A-Er-Src	breast:	n/a	n/a
40	STAT3	chr4:20893202-20893453	MCF10A-Er-Src	breast:	n/a	chr4:20893334-20893345
41	STAT3	chr4:20924519-20924538	MCF10A-Er-Src	breast:	n/a	n/a
42	USF2	chr4:20892569-20892597	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:20779088..20780993-chr4:20896835..20899396,2	K562	blood:

Variant related genes	Relation type
KCNIP4	TF binding region

Extended variants
information (count: 848 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:848 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1156304	chr4:20888436-20888437	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532016827	chr4:20888451-20888452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558163242	chr4:20888456-20888457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576737386	chr4:20888469-20888470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182262958	chr4:20888518-20888519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146969874	chr4:20888524-20888525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574201413	chr4:20888588-20888589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541117578	chr4:20888636-20888637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547981522	chr4:20888637-20888638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200960711	chr4:20888650-20888651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186911600	chr4:20888651-20888652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369057836	chr4:20888654-20888655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191708391	chr4:20888707-20888708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564205602	chr4:20888752-20888753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531438292	chr4:20888769-20888770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549581562	chr4:20888788-20888789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567886556	chr4:20888791-20888792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528958694	chr4:20888844-20888845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183419145	chr4:20888862-20888863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138106726	chr4:20888865-20888866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188358714	chr4:20888866-20888867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115601972	chr4:20888921-20888922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570376878	chr4:20888937-20888938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs193180264	chr4:20888947-20888948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555997936	chr4:20888948-20888949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570375097	chr4:20888970-20888971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200778173	chr4:20888985-20888986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140559983	chr4:20889026-20889027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370016043	chr4:20889083-20889084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185492659	chr4:20889138-20889139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553191220	chr4:20889149-20889150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35794367	chr4:20889181-20889182	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs545059867	chr4:20889205-20889206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563309625	chr4:20889239-20889240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531523449	chr4:20889265-20889266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543267127	chr4:20889269-20889270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561555331	chr4:20889286-20889287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529050440	chr4:20889316-20889317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547497413	chr4:20889321-20889322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190697747	chr4:20889343-20889344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370304919	chr4:20889365-20889366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558947602	chr4:20889366-20889367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572187616	chr4:20889400-20889401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191314841	chr4:20889414-20889415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62295429	chr4:20889450-20889451	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs569620540	chr4:20889483-20889484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183787446	chr4:20889504-20889505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142926070	chr4:20889511-20889512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115169097	chr4:20889541-20889542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567908459	chr4:20889609-20889610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20887200-20891600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:20891400-20891800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr4:20891600-20892000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr4:20892000-20892200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:20892200-20892600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr4:20892400-20893000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:20897600-20899400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:20901800-20903000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:20902200-20903800	Enhancers	Colon Smooth Muscle	Colon
10	chr4:20903600-20904200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr4:20912000-20912200	Enhancers	Gastric	stomach
12	chr4:20916200-20916600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr4:20916200-20917200	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr4:20916200-20918200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr4:20916200-20918400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr4:20916400-20916600	Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr4:20916400-20916800	Enhancers	Colon Smooth Muscle	Colon
18	chr4:20916400-20918400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr4:20916600-20916800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr4:20916600-20916800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr4:20916600-20927800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr4:20916800-20917000	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr4:20916800-20917800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr4:20916800-20918400	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr4:20917200-20917600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr4:20917600-20918200	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr4:20917800-20918400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr4:20917800-20920400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr4:20918200-20918600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr4:20918200-20919000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr4:20918400-20919200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr4:20918400-20919400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr4:20918400-20919800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr4:20918600-20920600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr4:20918800-20919400	Enhancers	Primary T cells fromperipheralblood	blood
36	chr4:20919000-20920600	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr4:20919200-20919400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr4:20919400-20919600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr4:20919400-20920200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr4:20919800-20920000	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr4:20920200-20920400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr4:20920200-20921200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:20921200-20927200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:20926400-20927200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr4:20926600-20927000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr4:20926800-20928000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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