Variant report

Variant	nsv881029
Chromosome Location	chr4:167060016-167284757
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	chr4:167087045-167087352	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:167245551-167245839	HepG2	liver:	n/a	n/a
3	ATF1	chr4:167087018-167087375	K562	blood:	n/a	n/a
4	ATF2	chr4:167086936-167087434	GM12878	blood:	n/a	n/a
5	ATF2	chr4:167086939-167087393	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr4:167086897-167087381	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr4:167086924-167087414	GM12878	blood:	n/a	n/a
8	ATF3	chr4:167087064-167087302	K562	blood:	n/a	chr4:167087210-167087223
9	BACH1	chr4:167068097-167068181	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr4:167064407-167064682	GM12878	blood:	n/a	n/a
11	BCL11A	chr4:167064380-167064698	GM12878	blood:	n/a	n/a
12	BCL11A	chr4:167064364-167064724	GM12878	blood:	n/a	n/a
13	BHLHE40	chr4:167284487-167284669	GM12878	blood:	n/a	n/a
14	CBX3	chr4:167245426-167245902	HCT-116	colon:	n/a	n/a
15	CEBPB	chr4:167102973-167103301	HepG2	liver:	n/a	chr4:167103147-167103158
16	CEBPB	chr4:167203362-167203933	Hela-S3	cervix:	n/a	chr4:167203686-167203699 chr4:167203686-167203699 chr4:167203686-167203699
17	CEBPB	chr4:167201970-167202208	MCF-7	breast:	n/a	chr4:167202074-167202087
18	CEBPB	chr4:167178451-167178706	IMR90	lung:	n/a	n/a
19	CEBPB	chr4:167195952-167196306	IMR90	lung:	n/a	chr4:167196127-167196138 chr4:167196045-167196056 chr4:167196125-167196142 chr4:167196126-167196139
20	CEBPB	chr4:167120091-167120288	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr4:167195969-167196290	H1-hESC	embryonic stem cell:	n/a	chr4:167196127-167196138 chr4:167196045-167196056 chr4:167196125-167196142 chr4:167196126-167196139
22	CEBPB	chr4:167093585-167093694	A549	lung:	n/a	n/a
23	CEBPB	chr4:167093552-167093821	IMR90	lung:	n/a	n/a
24	CEBPB	chr4:167234208-167234481	HepG2	liver:	n/a	chr4:167234319-167234330
25	CEBPB	chr4:167195977-167196303	Hela-S3	cervix:	n/a	chr4:167196127-167196138 chr4:167196045-167196056 chr4:167196125-167196142 chr4:167196126-167196139
26	CEBPB	chr4:167120087-167120347	MCF-7	breast:	n/a	n/a
27	CEBPB	chr4:167178473-167178631	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr4:167087055-167087375	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr4:167241483-167241745	K562	blood:	n/a	chr4:167241615-167241626
30	CEBPB	chr4:167131669-167131869	HepG2	liver:	n/a	chr4:167131721-167131730
31	CEBPB	chr4:167259822-167260056	IMR90	lung:	n/a	chr4:167259925-167259936
32	CEBPB	chr4:167178506-167178746	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr4:167086770-167087349	IMR90	lung:	n/a	n/a
34	CEBPB	chr4:167178451-167178734	HepG2	liver:	n/a	n/a
35	CEBPB	chr4:167087098-167087324	K562	blood:	n/a	n/a
36	CEBPB	chr4:167087030-167087333	A549	lung:	n/a	n/a
37	CEBPB	chr4:167278683-167278774	HepG2	liver:	n/a	n/a
38	CEBPB	chr4:167178471-167178706	A549	lung:	n/a	n/a
39	CEBPB	chr4:167241577-167241726	H1-hESC	embryonic stem cell:	n/a	chr4:167241615-167241626
40	CEBPB	chr4:167150082-167150360	HepG2	liver:	n/a	chr4:167150191-167150202 chr4:167150190-167150203 chr4:167150190-167150201 chr4:167150164-167150175 chr4:167150190-167150203
41	CEBPB	chr4:167269634-167269945	H1-hESC	embryonic stem cell:	n/a	n/a
42	CEBPB	chr4:167221731-167221812	HepG2	liver:	n/a	chr4:167221750-167221761
43	CEBPB	chr4:167259757-167260005	HepG2	liver:	n/a	chr4:167259925-167259936
44	CEBPB	chr4:167234267-167234422	K562	blood:	n/a	chr4:167234319-167234330
45	CEBPB	chr4:167241472-167241762	A549	lung:	n/a	chr4:167241615-167241626
46	CEBPB	chr4:167195965-167196308	A549	lung:	n/a	chr4:167196127-167196138 chr4:167196045-167196056 chr4:167196125-167196142 chr4:167196126-167196139
47	CEBPB	chr4:167241446-167241806	HepG2	liver:	n/a	chr4:167241615-167241626
48	CEBPB	chr4:167196005-167196311	K562	blood:	n/a	chr4:167196127-167196138 chr4:167196045-167196056 chr4:167196125-167196142 chr4:167196126-167196139
49	CEBPB	chr4:167195962-167196307	HepG2	liver:	n/a	chr4:167196127-167196138 chr4:167196045-167196056 chr4:167196125-167196142 chr4:167196126-167196139
50	CEBPB	chr4:167241438-167241800	IMR90	lung:	n/a	chr4:167241615-167241626

No.	Distal block	Cell Line	Cell type
1	chr4:167239410..167241651-chr4:167242890..167245668,2	K562	blood:
2	chr4:167239410..167241651-chr4:167242890..167245668,2	K562	blood:
3	chr4:167086669..167087587-chr4:167173432..167174252,3	MCF-7	breast:
4	chr4:167086669..167087587-chr4:167173432..167174252,3	MCF-7	breast:
5	chr4:167086659..167087619-chr4:167173764..167174746,5	MCF-7	breast:
6	chr4:167086659..167087619-chr4:167173764..167174746,5	MCF-7	breast:
7	chr2:198174852..198175582-chr4:167182637..167183400,2	HCT-116	colon:
8	chr4:167086761..167087587-chr4:167515275..167516081,4	MCF-7	breast:
9	chr4:167245228..167246184-chr4:167515396..167516066,3	MCF-7	breast:
10	chr4:167090069..167090971-chr4:167515205..167515895,2	MCF-7	breast:
11	chr4:167244994..167245863-chr4:167515216..167516030,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPOCK3-5	chr4:167236991-167240148	predAs_chen_BG208718_1

Variant related genes	Relation type
ENSG00000206711	TF binding region
ENSG00000266254	TF binding region
ENSG00000065413	chromatin interactions

Extended variants
information (count: 2833 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:2833 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10028777	chr4:167060016-167060017	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368237188	chr4:167060020-167060021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562518112	chr4:167060036-167060037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141453939	chr4:167060078-167060079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368071040	chr4:167060124-167060125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569566654	chr4:167060137-167060138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150371011	chr4:167060143-167060144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188367787	chr4:167060150-167060151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552305329	chr4:167060155-167060156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114522301	chr4:167060173-167060174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535281552	chr4:167060175-167060176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113392605	chr4:167060189-167060190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs36082251	chr4:167060206-167060207	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs527884469	chr4:167060207-167060208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556563191	chr4:167060261-167060262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201737063	chr4:167060287-167060288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557292979	chr4:167060314-167060315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs55905620	chr4:167060372-167060373	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs9784572	chr4:167060468-167060469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs557873801	chr4:167060478-167060479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576626847	chr4:167060485-167060486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540858606	chr4:167060503-167060504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78463408	chr4:167060566-167060567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79583284	chr4:167060632-167060633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541781155	chr4:167060644-167060645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs193195847	chr4:167060674-167060675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185407585	chr4:167060701-167060702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552296999	chr4:167060703-167060704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564196697	chr4:167060704-167060705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528681421	chr4:167060713-167060714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190655008	chr4:167060725-167060726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113730312	chr4:167060735-167060736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149031427	chr4:167060752-167060753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550998204	chr4:167060769-167060770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34549086	chr4:167060771-167060772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191177113	chr4:167060794-167060795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551913847	chr4:167060810-167060811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549628903	chr4:167060812-167060813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568855789	chr4:167060850-167060851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539497859	chr4:167060869-167060870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557810719	chr4:167060881-167060882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573038022	chr4:167060889-167060890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113289229	chr4:167060904-167060905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28750316	chr4:167060905-167060906	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs529577268	chr4:167060963-167060964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28410122	chr4:167060978-167060979	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs117166121	chr4:167060983-167060984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs80264517	chr4:167061015-167061016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56944320	chr4:167061024-167061025	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs183678309	chr4:167061081-167061082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Breast cancer	17603634	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
Lung cancer	19208797	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
Breast cancer	17393978	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
Congenital diaphragmatic hernia	21085971	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
Glioblastoma multiforme	22286061	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Glioma	20126413	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:167050400-167064000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:167064000-167064400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:167064200-167064600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:167064400-167066600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:167074400-167074600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:167074400-167075000	Enhancers	Fetal Kidney	kidney
7	chr4:167074400-167075200	Enhancers	Adipose Nuclei	Adipose
8	chr4:167074400-167075400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:167074400-167075400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:167074400-167075400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr4:167074600-167075000	Enhancers	Osteobl	bone
12	chr4:167074600-167075600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:167075000-167079400	Weak transcription	Fetal Kidney	kidney
14	chr4:167075200-167079400	Weak transcription	Adipose Nuclei	Adipose
15	chr4:167077000-167079200	Enhancers	Fetal Stomach	stomach
16	chr4:167079400-167079800	Enhancers	Fetal Kidney	kidney
17	chr4:167079400-167080000	Enhancers	Adipose Nuclei	Adipose
18	chr4:167086800-167087000	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr4:167087000-167087200	Enhancers	Osteobl	bone
20	chr4:167087200-167087400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:167087200-167087400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:167092400-167095600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:167095600-167096800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:167096000-167097000	Enhancers	HUVEC	blood vessel
25	chr4:167102000-167102800	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr4:167116600-167116800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:167116800-167118200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:167118200-167119200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:167118600-167119000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:167118800-167120800	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr4:167119000-167120800	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr4:167119000-167121000	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr4:167119000-167121200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr4:167119200-167119400	Enhancers	Placenta	Placenta
35	chr4:167119200-167120600	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr4:167119400-167120000	Flanking Active TSS	Placenta	Placenta
37	chr4:167119400-167120000	Active TSS	HSMM	muscle
38	chr4:167120000-167120400	Enhancers	Placenta	Placenta
39	chr4:167120800-167121200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr4:167120800-167121200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr4:167121200-167123600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr4:167121200-167124400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr4:167121200-167127600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr4:167123600-167123800	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr4:167123800-167124400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr4:167124400-167124600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr4:167124400-167124800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr4:167124800-167132000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr4:167131600-167132800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
50	chr4:167132800-167133200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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