Variant report

Variant	nsv980240
Chromosome Location	chr4:110467259-110476042
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:81)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:81 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:110475705-110476008	HepG2	liver:	n/a	chr4:110475837-110475848
2	CTCF	chr4:110473420-110473570	GM12874	blood:	n/a	n/a
3	CTCF	chr4:110468620-110468770	WERI-Rb-1	eye:	n/a	n/a
4	CTCF	chr4:110474050-110474093	GM20000	blood:	n/a	n/a
5	CTCF	chr4:110473481-110473565	LNCaP	prostate:	n/a	n/a
6	CTCF	chr4:110467569-110467590	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr4:110473400-110473550	GM12873	blood:	n/a	n/a
8	CTCF	chr4:110473513-110473656	GM12878	blood:	n/a	n/a
9	CTCF	chr4:110468580-110468730	GM12872	blood:	n/a	n/a
10	CTCF	chr4:110473480-110473630	GM12872	blood:	n/a	n/a
11	CTCF	chr4:110468700-110468850	HRPEpiC	eye:	n/a	n/a
12	CTCF	chr4:110473500-110473650	GM12868	blood:	n/a	n/a
13	CTCF	chr4:110473450-110473595	K562	blood:	n/a	n/a
14	CTCF	chr4:110473503-110473591	MCF-7	breast:	n/a	n/a
15	E2F4	chr4:110469841-110470218	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr4:110469662-110470371	HUVEC	blood vessel:	n/a	chr4:110469987-110469998
17	FOS	chr4:110468758-110468785	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr4:110469805-110470349	MCF10A-Er-Src	breast:	n/a	chr4:110469987-110469998
19	FOS	chr4:110468697-110468815	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr4:110469805-110470365	MCF10A-Er-Src	breast:	n/a	chr4:110469987-110469998
21	FOS	chr4:110469828-110470298	MCF10A-Er-Src	breast:	n/a	chr4:110469987-110469998
22	FOS	chr4:110469840-110470279	MCF10A-Er-Src	breast:	n/a	chr4:110469987-110469998
23	FOSL2	chr4:110469709-110470302	SK-N-SH	brain:	n/a	n/a
24	GATA2	chr4:110469590-110470191	HUVEC	blood vessel:	n/a	n/a
25	JUN	chr4:110469745-110470357	HUVEC	blood vessel:	n/a	n/a
26	JUND	chr4:110469756-110470398	SK-N-SH	brain:	n/a	n/a
27	KAP1	chr4:110468412-110468800	U2OS	brain:	n/a	n/a
28	MAFF	chr4:110473513-110473698	HepG2	liver:	n/a	n/a
29	MAFF	chr4:110469900-110470269	HepG2	liver:	n/a	chr4:110470107-110470125 chr4:110470075-110470093
30	MAFF	chr4:110469954-110470154	K562	blood:	n/a	chr4:110470107-110470125 chr4:110470075-110470093
31	MAFK	chr4:110470007-110470257	Hela-S3	cervix:	n/a	n/a
32	MAFK	chr4:110470010-110470172	K562	blood:	n/a	n/a
33	MAFK	chr4:110469913-110470269	HepG2	liver:	n/a	n/a
34	MAFK	chr4:110473551-110473670	HepG2	liver:	n/a	n/a
35	MAFK	chr4:110469836-110470307	IMR90	lung:	n/a	n/a
36	MAFK	chr4:110469918-110470244	HepG2	liver:	n/a	n/a
37	MAX	chr4:110469903-110469915	NB4	blood:	n/a	n/a
38	MYC	chr4:110469899-110470093	MCF10A-Er-Src	breast:	n/a	n/a
39	MYC	chr4:110469831-110470241	MCF10A-Er-Src	breast:	n/a	n/a
40	MYC	chr4:110469854-110470005	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr4:110469273-110469473	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr4:110470057-110470307	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr4:110469921-110470028	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr4:110467382-110467458	K562	blood:	n/a	n/a
45	POLR2A	chr4:110470373-110470686	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr4:110469433-110470236	K562	blood:	n/a	n/a
47	POLR2A	chr4:110468788-110468968	HepG2	liver:	n/a	n/a
48	POLR2A	chr4:110469213-110469305	HepG2	liver:	n/a	n/a
49	POLR2A	chr4:110469130-110469362	A549	lung:	n/a	n/a
50	POLR2A	chr4:110469727-110470225	HUVEC	blood vessel:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:110461566..110463825-chr4:110465703..110468687,3	K562	blood:
2	chr4:110473160..110473972-chr4:110573620..110574627,3	MCF-7	breast:
3	chr4:110463063..110464866-chr4:110466518..110468456,2	MCF-7	breast:
4	chr4:110354210..110355999-chr4:110468892..110470788,2	MCF-7	breast:
5	chr4:110466638..110469623-chr4:110471525..110474014,2	K562	blood:
6	chr4:110466638..110469623-chr4:110471525..110474014,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC109B-3	chr4:110475753-110475808	NONHSAT097786
2	lnc-CCDC109B-3	chr4:110475514-110475693	NONHSAT097786

No data

Variant related genes	Relation type
SETP20	TF binding region
CDC42P4	TF binding region
ENSG00000138802	chromatin interactions
ENSG00000247950	chromatin interactions

Extended variants
information (count: 323 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:323 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556964434	chr4:110467536-110467537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373504021	chr4:110467550-110467551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116736049	chr4:110467564-110467565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536388734	chr4:110467627-110467628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189800099	chr4:110467672-110467673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547902122	chr4:110467688-110467689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368118464	chr4:110467695-110467696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370515856	chr4:110467714-110467715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565343959	chr4:110467718-110467719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374160911	chr4:110467748-110467749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10011971	chr4:110467753-110467754	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs181894680	chr4:110467782-110467783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs56386536	chr4:110467800-110467801	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557624743	chr4:110467940-110467941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530660323	chr4:110468050-110468051	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368341341	chr4:110468115-110468116	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575520014	chr4:110468184-110468185	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544499556	chr4:110468212-110468213	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34856320	chr4:110468222-110468223	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201999335	chr4:110468223-110468224	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs72090525	chr4:110468230-110468231	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs57449614	chr4:110468236-110468237	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140468223	chr4:110468381-110468382	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113936220	chr4:110468384-110468385	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113657988	chr4:110468418-110468419	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374875054	chr4:110468426-110468427	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372217924	chr4:110468450-110468451	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577893604	chr4:110468460-110468461	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529709011	chr4:110468480-110468481	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540186972	chr4:110468491-110468492	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574323323	chr4:110468508-110468509	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138375702	chr4:110468509-110468510	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74773195	chr4:110468518-110468519	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs60149757	chr4:110468532-110468533	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34153531	chr4:110468549-110468550	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs373013305	chr4:110468600-110468601	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532075509	chr4:110468637-110468638	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557143940	chr4:110468729-110468730	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551973264	chr4:110468764-110468765	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571727983	chr4:110468789-110468790	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531144035	chr4:110468790-110468791	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571914171	chr4:110468865-110468866	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567370015	chr4:110468872-110468873	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538846746	chr4:110468878-110468879	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536252471	chr4:110468887-110468888	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569332965	chr4:110468891-110468892	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373472214	chr4:110468893-110468894	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs367642935	chr4:110468950-110468951	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs72672696	chr4:110468985-110468986	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs566244788	chr4:110468993-110468994	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	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
Ovarian cancer	21720365	CNVD
Esophageal cancer	21851588	CNVD
Melanoma	20688739	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16397240	CNVD
Schizophrenia	19546859	CNVD
Colorectal cancer	16272173	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:237 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110393800-110469200	Weak transcription	Stomach Mucosa	stomach
2	chr4:110409400-110467800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr4:110412400-110470600	Strong transcription	Fetal Thymus	thymus
4	chr4:110423400-110480800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:110424800-110468400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:110425200-110468000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:110434800-110469600	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr4:110435000-110468400	Strong transcription	Liver	Liver
9	chr4:110436800-110468000	Strong transcription	HSMM	muscle
10	chr4:110445800-110467800	Strong transcription	Adipose Nuclei	Adipose
11	chr4:110448800-110479600	Weak transcription	Small Intestine	intestine
12	chr4:110448800-110480000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr4:110449600-110469400	Weak transcription	Pancreas	Pancrea
14	chr4:110452000-110470200	Weak transcription	Esophagus	oesophagus
15	chr4:110452400-110480800	Weak transcription	Right Ventricle	heart
16	chr4:110454000-110480600	Weak transcription	NHLF	lung
17	chr4:110454600-110480200	Weak transcription	A549	lung
18	chr4:110455000-110470800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr4:110455400-110469400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr4:110455400-110469800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr4:110455600-110480600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:110456200-110470800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr4:110456400-110469000	Weak transcription	HMEC	breast
24	chr4:110456400-110469400	Weak transcription	Brain Angular Gyrus	brain
25	chr4:110456400-110472000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr4:110456400-110480600	Weak transcription	Brain Substantia Nigra	brain
27	chr4:110456400-110481600	Weak transcription	Fetal Heart	heart
28	chr4:110456600-110469600	Weak transcription	Lung	lung
29	chr4:110457400-110468400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:110457400-110480600	Weak transcription	Right Atrium	heart
31	chr4:110458400-110469000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:110458800-110469600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr4:110459000-110467400	Strong transcription	Placenta	Placenta
34	chr4:110460200-110480800	Weak transcription	Brain Anterior Caudate	brain
35	chr4:110461000-110467600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr4:110461000-110468600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:110461000-110480600	Weak transcription	HSMMtube	muscle
38	chr4:110461200-110467400	Weak transcription	Ovary	ovary
39	chr4:110461200-110471000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr4:110461200-110479600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr4:110461600-110470400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr4:110462000-110469400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr4:110462000-110469400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr4:110462000-110478400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:110462400-110474400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr4:110462600-110469600	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr4:110462600-110479600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr4:110462800-110468600	Weak transcription	HUVEC	blood vessel
49	chr4:110462800-110480800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr4:110463000-110469400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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