Variant report

Variant	nsv1002683
Chromosome Location	chr4:78170317-78281331
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	chr4:78268651-78268718	HepG2	liver:	n/a	n/a
2	ATF1	chr4:78267547-78267723	K562	blood:	n/a	n/a
3	BHLHE40	chr4:78265976-78266449	GM12878	blood:	n/a	n/a
4	BRCA1	chr4:78230084-78230356	Hela-S3	cervix:	n/a	n/a
5	CBX3	chr4:78253824-78254202	K562	blood:	n/a	n/a
6	CBX3	chr4:78263352-78263680	HCT-116	colon:	n/a	n/a
7	CBX3	chr4:78263330-78263629	K562	blood:	n/a	n/a
8	CBX3	chr4:78263269-78263765	HCT-116	colon:	n/a	n/a
9	CBX3	chr4:78253746-78254319	HCT-116	colon:	n/a	n/a
10	CBX3	chr4:78253883-78254139	K562	blood:	n/a	n/a
11	CEBPB	chr4:78215392-78215580	K562	blood:	n/a	chr4:78215544-78215555
12	CEBPB	chr4:78215400-78215689	HepG2	liver:	n/a	chr4:78215544-78215555
13	CEBPB	chr4:78268252-78268595	HepG2	liver:	n/a	chr4:78268368-78268377 chr4:78268366-78268379 chr4:78268368-78268379
14	CEBPB	chr4:78268366-78268440	K562	blood:	n/a	chr4:78268368-78268377 chr4:78268366-78268379 chr4:78268368-78268379
15	CEBPB	chr4:78215423-78215638	IMR90	lung:	n/a	chr4:78215544-78215555
16	CEBPB	chr4:78226987-78227290	HepG2	liver:	n/a	chr4:78227117-78227130 chr4:78227117-78227128 chr4:78227118-78227129 chr4:78227117-78227130
17	CEBPB	chr4:78268359-78268485	IMR90	lung:	n/a	chr4:78268368-78268377 chr4:78268366-78268379 chr4:78268368-78268379
18	CEBPB	chr4:78226971-78227260	K562	blood:	n/a	chr4:78227117-78227130 chr4:78227117-78227128 chr4:78227118-78227129 chr4:78227117-78227130
19	CEBPB	chr4:78227010-78227248	Hela-S3	cervix:	n/a	chr4:78227117-78227130 chr4:78227117-78227128 chr4:78227118-78227129 chr4:78227117-78227130
20	CEBPB	chr4:78171884-78171912	HepG2	liver:	n/a	n/a
21	CEBPB	chr4:78226915-78227276	MCF-7	breast:	n/a	chr4:78227117-78227130 chr4:78227117-78227128 chr4:78227118-78227129 chr4:78227117-78227130
22	CHD2	chr4:78254095-78254505	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr4:78230108-78230195	HepG2	liver:	n/a	n/a
24	CTCF	chr4:78170560-78170710	GM12873	blood:	n/a	chr4:78170664-78170685 chr4:78170669-78170687 chr4:78170675-78170684
25	CTCF	chr4:78274860-78275010	GM12878	blood:	n/a	n/a
26	CTCF	chr4:78274320-78274470	HBMEC	blood vessel:	n/a	n/a
27	CTCF	chr4:78230580-78230730	HCM	heart:	n/a	n/a
28	CTCF	chr4:78279579-78279779	GM13976	blood:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
29	CTCF	chr4:78230140-78230290	K562	blood:	n/a	n/a
30	CTCF	chr4:78279600-78279750	HEEpiC	esophagus:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
31	CTCF	chr4:78280320-78280470	GM06990	blood:	n/a	n/a
32	CTCF	chr4:78274860-78275010	HEEpiC	esophagus:	n/a	n/a
33	CTCF	chr4:78230111-78230317	LNCaP	prostate:	n/a	n/a
34	CTCF	chr4:78229885-78230483	A549	lung:	n/a	n/a
35	CTCF	chr4:78279340-78279490	GM12871	blood:	n/a	n/a
36	CTCF	chr4:78170540-78170690	NHLF	lung:	n/a	chr4:78170664-78170685 chr4:78170669-78170687 chr4:78170675-78170684
37	CTCF	chr4:78197240-78197390	GM12872	blood:	n/a	n/a
38	CTCF	chr4:78280280-78280430	HRPEpiC	eye:	n/a	n/a
39	CTCF	chr4:78197286-78197491	K562	blood:	n/a	n/a
40	CTCF	chr4:78197260-78197410	GM12864	blood:	n/a	n/a
41	CTCF	chr4:78170640-78170790	HVMF	connective:	n/a	chr4:78170664-78170685 chr4:78170669-78170687 chr4:78170675-78170684
42	CTCF	chr4:78279938-78279969	GM13977	blood:	n/a	n/a
43	CTCF	chr4:78274860-78275010	BE2_C	brain:	n/a	n/a
44	CTCF	chr4:78279600-78279750	HPAF	blood vessel:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
45	CTCF	chr4:78230080-78230230	HA-sp	spinal cord:	n/a	n/a
46	CTCF	chr4:78274860-78275010	AG09309	skin:	n/a	n/a
47	CTCF	chr4:78279600-78279750	AG04449	skin:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
48	CTCF	chr4:78230220-78230370	HFF-Myc	foreskin:	n/a	n/a
49	CTCF	chr4:78230010-78230408	GM12878	blood:	n/a	n/a
50	CTCF	chr4:78241258-78241287	GM10248	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:78161398..78162211-chr4:78229720..78230660,3	MCF-7	breast:
2	chr4:78230184..78230702-chr4:78278364..78278865,2	MCF-7	breast:
3	chr4:78266632..78268344-chr4:78268869..78271315,2	K562	blood:
4	chr4:78161311..78162711-chr4:78226629..78227614,14	MCF-7	breast:
5	chr4:78174499..78176837-chr4:78205161..78207032,2	MCF-7	breast:
6	chr1:118958475..118959178-chr4:78279470..78280113,2	MCF-7	breast:
7	chr4:78278110..78280443-chr4:78281438..78283101,2	MCF-7	breast:
8	chr4:78266632..78268344-chr4:78268869..78271315,2	K562	blood:
9	chr4:78269918..78271823-chr4:78272380..78274841,2	MCF-7	breast:
10	chr4:78257188..78259774-chr4:78266144..78268332,2	K562	blood:
11	chr4:78161721..78162270-chr4:78279119..78279681,2	MCF-7	breast:
12	chr4:78161365..78162334-chr4:78279195..78280134,7	K562	blood:
13	chr4:78270382..78272050-chr4:78274178..78276131,2	K562	blood:
14	chr4:78161324..78162321-chr4:78279149..78280134,4	MCF-7	breast:
15	chr4:78161188..78162532-chr4:78229476..78230856,15	MCF-7	breast:
16	chr4:78177354..78179710-chr4:78180664..78183643,2	MCF-7	breast:
17	chr4:78161284..78162458-chr4:78229777..78230742,7	K562	blood:
18	chr4:78229797..78230625-chr4:78279333..78280102,3	MCF-7	breast:
19	chr4:78182930..78185790-chr4:78187841..78189605,2	K562	blood:
20	chr4:78155252..78157365-chr4:78224145..78227144,3	MCF-7	breast:
21	chr4:78236163..78238480-chr4:78287943..78289669,2	K562	blood:
22	chr4:77973179..77974099-chr4:78229775..78230650,3	K562	blood:
23	chr4:78230184..78230702-chr4:78278364..78278865,2	MCF-7	breast:
24	chr4:78257188..78259774-chr4:78266144..78268332,2	K562	blood:
25	chr4:78161416..78162110-chr4:78226527..78227315,3	MCF-7	breast:
26	chr4:78182930..78185790-chr4:78187841..78189605,2	K562	blood:
27	chr4:78270382..78272050-chr4:78274178..78276131,2	K562	blood:
28	chr4:78160754..78162321-chr4:78226906..78228617,2	MCF-7	breast:
29	chr4:78177354..78179710-chr4:78180664..78183643,2	MCF-7	breast:
30	chr4:78162165..78163774-chr4:78227168..78228953,2	MCF-7	breast:
31	chr4:78174499..78176837-chr4:78205161..78207032,2	MCF-7	breast:
32	chr4:78158067..78160012-chr4:78227264..78228770,2	MCF-7	breast:
33	chr4:78229797..78230625-chr4:78279333..78280102,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCNI-5	chr4:78232550-78233264	NONHSAT097052
2	lnc-CCNI-6	chr4:78271523-78272388	NONHSAT097053

Variant related genes	Relation type
ENSG00000248831	TF binding region
ENSG00000250006	TF binding region
ENSG00000248831	chromatin interactions

Extended variants
information (count: 5492 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:5492 , 50 per page) page: 1 2 3 4 5 6 7 ... 110

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7377897	chr4:78170317-78170318	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190405271	chr4:78170351-78170352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561337277	chr4:78170391-78170392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139868955	chr4:78170399-78170400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4859761	chr4:78170419-78170420	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs538389629	chr4:78170443-78170444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2216631	chr4:78170469-78170470	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs375844118	chr4:78170470-78170471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568672088	chr4:78170482-78170483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182096794	chr4:78170501-78170502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4406045	chr4:78170557-78170558	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs375764975	chr4:78170577-78170578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145351814	chr4:78170598-78170599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536149107	chr4:78170635-78170636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554462626	chr4:78170744-78170745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147838828	chr4:78170750-78170751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562173171	chr4:78170751-78170752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187610616	chr4:78170769-78170770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115300670	chr4:78170774-78170775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574226062	chr4:78170782-78170783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4241608	chr4:78170783-78170784	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs544738155	chr4:78170787-78170788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561116114	chr4:78170794-78170795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530140633	chr4:78170867-78170868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555785073	chr4:78170915-78170916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560384010	chr4:78170921-78170922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs367597392	chr4:78170961-78170962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139781672	chr4:78170962-78170963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142600037	chr4:78171034-78171035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs117625773	chr4:78171058-78171059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530521450	chr4:78171063-78171064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550694258	chr4:78171170-78171171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567138273	chr4:78171181-78171182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575621370	chr4:78171184-78171185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs41352744	chr4:78171206-78171207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546642073	chr4:78171219-78171220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189030259	chr4:78171322-78171323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566740122	chr4:78171326-78171327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538943697	chr4:78171373-78171374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140849444	chr4:78171420-78171421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77560964	chr4:78171429-78171430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4241609	chr4:78171477-78171478	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs555072497	chr4:78171480-78171481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531012525	chr4:78171498-78171499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4241610	chr4:78171513-78171514	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs180948669	chr4:78171516-78171517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79497603	chr4:78171557-78171558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs185516798	chr4:78171558-78171559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546138011	chr4:78171562-78171563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs75433487	chr4:78171567-78171568	Enhancers	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:209 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78169800-78170400	Enhancers	HepG2	liver
2	chr4:78169800-78170800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:78170000-78170400	Enhancers	Gastric	stomach
4	chr4:78170000-78170400	Weak transcription	Pancreas	Pancrea
5	chr4:78170400-78173000	Enhancers	Pancreas	Pancrea
6	chr4:78172000-78172200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:78172000-78172400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:78175000-78176000	Enhancers	Placenta	Placenta
9	chr4:78176000-78176800	Weak transcription	Placenta	Placenta
10	chr4:78176000-78177000	Enhancers	Fetal Intestine Small	intestine
11	chr4:78176800-78177600	Enhancers	Placenta	Placenta
12	chr4:78180000-78190200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:78181000-78181400	Enhancers	Adipose Nuclei	Adipose
14	chr4:78181400-78182400	Weak transcription	Adipose Nuclei	Adipose
15	chr4:78182400-78182600	Enhancers	Adipose Nuclei	Adipose
16	chr4:78184400-78184800	Enhancers	Placenta	Placenta
17	chr4:78184800-78186200	Weak transcription	Placenta	Placenta
18	chr4:78186200-78186600	Enhancers	HMEC	breast
19	chr4:78186200-78186800	Enhancers	Placenta	Placenta
20	chr4:78186600-78190400	Weak transcription	HMEC	breast
21	chr4:78186800-78188600	Weak transcription	Placenta	Placenta
22	chr4:78188600-78190600	Enhancers	Placenta	Placenta
23	chr4:78190200-78191000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:78190200-78191000	Bivalent Enhancer	HSMMtube	muscle
25	chr4:78190200-78191400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:78190400-78191000	Enhancers	HMEC	breast
27	chr4:78190400-78191600	Enhancers	Placenta Amnion	Placenta Amnion
28	chr4:78190600-78191000	Weak transcription	Placenta	Placenta
29	chr4:78191000-78193600	Enhancers	Placenta	Placenta
30	chr4:78191000-78200000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:78193600-78205400	Weak transcription	Placenta	Placenta
32	chr4:78199600-78201200	Enhancers	HMEC	breast
33	chr4:78200000-78200800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:78200000-78201000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:78200000-78201000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:78200000-78201000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:78203200-78203600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:78203400-78203800	Enhancers	Adipose Nuclei	Adipose
39	chr4:78205200-78205600	Enhancers	HSMMtube	muscle
40	chr4:78205200-78205800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:78205400-78205800	Enhancers	Placenta	Placenta
42	chr4:78205800-78211600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:78210400-78210600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr4:78210600-78221800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:78213200-78214600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr4:78214400-78214600	Enhancers	Placenta	Placenta
47	chr4:78214600-78214800	Enhancers	H9 Cell Line	embryonic stem cell
48	chr4:78214600-78215200	Weak transcription	Placenta	Placenta
49	chr4:78215200-78216000	Enhancers	Placenta	Placenta
50	chr4:78219000-78222200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links