Variant report

Variant	nsv1003399
Chromosome Location	chr4:78186343-78255427
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	BRCA1	chr4:78230084-78230356	Hela-S3	cervix:	n/a	n/a
2	CBX3	chr4:78253824-78254202	K562	blood:	n/a	n/a
3	CBX3	chr4:78253746-78254319	HCT-116	colon:	n/a	n/a
4	CBX3	chr4:78253883-78254139	K562	blood:	n/a	n/a
5	CEBPB	chr4:78226971-78227260	K562	blood:	n/a	chr4:78227117-78227130 chr4:78227117-78227128 chr4:78227118-78227129 chr4:78227117-78227130
6	CEBPB	chr4:78215392-78215580	K562	blood:	n/a	chr4:78215544-78215555
7	CEBPB	chr4:78227010-78227248	Hela-S3	cervix:	n/a	chr4:78227117-78227130 chr4:78227117-78227128 chr4:78227118-78227129 chr4:78227117-78227130
8	CEBPB	chr4:78226987-78227290	HepG2	liver:	n/a	chr4:78227117-78227130 chr4:78227117-78227128 chr4:78227118-78227129 chr4:78227117-78227130
9	CEBPB	chr4:78226915-78227276	MCF-7	breast:	n/a	chr4:78227117-78227130 chr4:78227117-78227128 chr4:78227118-78227129 chr4:78227117-78227130
10	CEBPB	chr4:78215400-78215689	HepG2	liver:	n/a	chr4:78215544-78215555
11	CEBPB	chr4:78215423-78215638	IMR90	lung:	n/a	chr4:78215544-78215555
12	CHD2	chr4:78254095-78254505	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr4:78230108-78230195	HepG2	liver:	n/a	n/a
14	CTCF	chr4:78230029-78230389	IMR90	lung:	n/a	n/a
15	CTCF	chr4:78198625-78198683	HepG2	liver:	n/a	chr4:78198641-78198650
16	CTCF	chr4:78230580-78230730	HCM	heart:	n/a	n/a
17	CTCF	chr4:78230035-78230349	A549	lung:	n/a	n/a
18	CTCF	chr4:78230096-78230311	T-47D	breast:	n/a	n/a
19	CTCF	chr4:78230140-78230290	HRE	kidney:	n/a	n/a
20	CTCF	chr4:78230160-78230310	GM12870	blood:	n/a	n/a
21	CTCF	chr4:78197240-78197390	NHEK	skin:	n/a	n/a
22	CTCF	chr4:78230115-78230321	MCF-7	breast:	n/a	n/a
23	CTCF	chr4:78230119-78230307	GM10266	blood:	n/a	n/a
24	CTCF	chr4:78230140-78230290	HPAF	blood vessel:	n/a	n/a
25	CTCF	chr4:78230120-78230270	GM12870	blood:	n/a	n/a
26	CTCF	chr4:78230194-78230296	GM19240	blood:	n/a	n/a
27	CTCF	chr4:78188204-78188241	GM19239	blood:	n/a	n/a
28	CTCF	chr4:78230120-78230270	AG09319	gingival:	n/a	n/a
29	CTCF	chr4:78230140-78230290	HEEpiC	esophagus:	n/a	n/a
30	CTCF	chr4:78230440-78230590	HMEC	breast:	n/a	n/a
31	CTCF	chr4:78227040-78227190	SAEC	small airway:	n/a	chr4:78227096-78227117 chr4:78227101-78227119 chr4:78227103-78227116
32	CTCF	chr4:78227260-78227410	WI-38	lung:	n/a	n/a
33	CTCF	chr4:78227044-78227170	GM12878	blood:	n/a	chr4:78227096-78227117 chr4:78227101-78227119 chr4:78227103-78227116
34	CTCF	chr4:78230220-78230370	HCT-116	colon:	n/a	n/a
35	CTCF	chr4:78230126-78230318	GM10248	blood:	n/a	n/a
36	CTCF	chr4:78230120-78230270	SAEC	small airway:	n/a	n/a
37	CTCF	chr4:78230120-78230270	HepG2	liver:	n/a	n/a
38	CTCF	chr4:78230100-78230336	Gliobla	brain:	n/a	n/a
39	CTCF	chr4:78197303-78197420	K562	blood:	n/a	n/a
40	CTCF	chr4:78227020-78227170	MCF-7	breast:	n/a	chr4:78227096-78227117 chr4:78227101-78227119 chr4:78227103-78227116
41	CTCF	chr4:78230160-78230310	A549	lung:	n/a	n/a
42	CTCF	chr4:78230201-78230293	GM19238	blood:	n/a	n/a
43	CTCF	chr4:78230140-78230290	NHDF-neo	bronchial:	n/a	n/a
44	CTCF	chr4:78230173-78230299	A549	lung:	n/a	n/a
45	CTCF	chr4:78197280-78197430	MCF-7	breast:	n/a	n/a
46	CTCF	chr4:78230128-78230296	GM13976	blood:	n/a	n/a
47	CTCF	chr4:78227046-78227181	LNCaP	prostate:	n/a	chr4:78227096-78227117 chr4:78227101-78227119 chr4:78227103-78227116
48	CTCF	chr4:78198780-78198930	GM12868	blood:	n/a	n/a
49	CTCF	chr4:78230080-78230245	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr4:78230120-78230270	NHDF-neo	bronchial:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:78229797..78230625-chr4:78279333..78280102,3	MCF-7	breast:
2	chr4:77973179..77974099-chr4:78229775..78230650,3	K562	blood:
3	chr4:78161398..78162211-chr4:78229720..78230660,3	MCF-7	breast:
4	chr4:78160754..78162321-chr4:78226906..78228617,2	MCF-7	breast:
5	chr4:78161284..78162458-chr4:78229777..78230742,7	K562	blood:
6	chr4:78161416..78162110-chr4:78226527..78227315,3	MCF-7	breast:
7	chr4:78158067..78160012-chr4:78227264..78228770,2	MCF-7	breast:
8	chr4:78155252..78157365-chr4:78224145..78227144,3	MCF-7	breast:
9	chr4:78236163..78238480-chr4:78287943..78289669,2	K562	blood:
10	chr4:78182930..78185790-chr4:78187841..78189605,2	K562	blood:
11	chr4:78161311..78162711-chr4:78226629..78227614,14	MCF-7	breast:
12	chr4:78174499..78176837-chr4:78205161..78207032,2	MCF-7	breast:
13	chr4:78161188..78162532-chr4:78229476..78230856,15	MCF-7	breast:
14	chr4:78162165..78163774-chr4:78227168..78228953,2	MCF-7	breast:
15	chr4:78230184..78230702-chr4:78278364..78278865,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCNI-5	chr4:78232550-78233264	NONHSAT097052

Variant related genes	Relation type
ENSG00000250006	TF binding region

Extended variants
information (count: 3519 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:3519 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201124883	chr4:78186370-78186371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76132758	chr4:78186377-78186378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143722800	chr4:78186391-78186392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10518169	chr4:78186392-78186393	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs181823010	chr4:78186398-78186399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535595051	chr4:78186419-78186420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79959345	chr4:78186439-78186440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115913751	chr4:78186503-78186504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541563486	chr4:78186520-78186521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558166026	chr4:78186537-78186538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs578052745	chr4:78186548-78186549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543843615	chr4:78186570-78186571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563969228	chr4:78186593-78186594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529602315	chr4:78186643-78186644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543205025	chr4:78186647-78186648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375233269	chr4:78186682-78186683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540228484	chr4:78186712-78186713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369343591	chr4:78186773-78186774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559725442	chr4:78186806-78186807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140551302	chr4:78186808-78186809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143182537	chr4:78186847-78186848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570233261	chr4:78186864-78186865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111988367	chr4:78186867-78186868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186313517	chr4:78186874-78186875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534455693	chr4:78186875-78186876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535426948	chr4:78186876-78186877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114297889	chr4:78186881-78186882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565769227	chr4:78186893-78186894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140257917	chr4:78186915-78186916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10016577	chr4:78186953-78186954	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs578153742	chr4:78186962-78186963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75374222	chr4:78186964-78186965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557124858	chr4:78186966-78186967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150354788	chr4:78186969-78186970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545520935	chr4:78186978-78186979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562215629	chr4:78186980-78186981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2059102	chr4:78186989-78186990	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs373892177	chr4:78187003-78187004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2059103	chr4:78187007-78187008	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs545199659	chr4:78187016-78187017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563797073	chr4:78187087-78187088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111586983	chr4:78187108-78187109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573917794	chr4:78187109-78187110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28741683	chr4:78187146-78187147	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs569576805	chr4:78187160-78187161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143501999	chr4:78187168-78187169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548969706	chr4:78187172-78187173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565986129	chr4:78187220-78187221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527633651	chr4:78187227-78187228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534771752	chr4:78187286-78187287	Weak transcription	n/a	n/a	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
lymphocytic leukemia	21291569	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
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78180000-78190200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:78186200-78186600	Enhancers	HMEC	breast
3	chr4:78186200-78186800	Enhancers	Placenta	Placenta
4	chr4:78186600-78190400	Weak transcription	HMEC	breast
5	chr4:78186800-78188600	Weak transcription	Placenta	Placenta
6	chr4:78188600-78190600	Enhancers	Placenta	Placenta
7	chr4:78190200-78191000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:78190200-78191000	Bivalent Enhancer	HSMMtube	muscle
9	chr4:78190200-78191400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:78190400-78191000	Enhancers	HMEC	breast
11	chr4:78190400-78191600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr4:78190600-78191000	Weak transcription	Placenta	Placenta
13	chr4:78191000-78193600	Enhancers	Placenta	Placenta
14	chr4:78191000-78200000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:78193600-78205400	Weak transcription	Placenta	Placenta
16	chr4:78199600-78201200	Enhancers	HMEC	breast
17	chr4:78200000-78200800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:78200000-78201000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:78200000-78201000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:78200000-78201000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:78203200-78203600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:78203400-78203800	Enhancers	Adipose Nuclei	Adipose
23	chr4:78205200-78205600	Enhancers	HSMMtube	muscle
24	chr4:78205200-78205800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:78205400-78205800	Enhancers	Placenta	Placenta
26	chr4:78205800-78211600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:78210400-78210600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr4:78210600-78221800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:78213200-78214600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr4:78214400-78214600	Enhancers	Placenta	Placenta
31	chr4:78214600-78214800	Enhancers	H9 Cell Line	embryonic stem cell
32	chr4:78214600-78215200	Weak transcription	Placenta	Placenta
33	chr4:78215200-78216000	Enhancers	Placenta	Placenta
34	chr4:78219000-78222200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr4:78219600-78219800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:78219600-78219800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
37	chr4:78219600-78219800	Enhancers	Primary hematopoietic stem cells	blood
38	chr4:78219600-78219800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr4:78219600-78219800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr4:78219800-78222400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:78221400-78221600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:78221400-78221800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr4:78221600-78222400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:78221600-78222800	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr4:78221800-78222200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr4:78221800-78222400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr4:78221800-78222800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr4:78221800-78222800	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr4:78221800-78222800	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr4:78221800-78222800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links