Variant report

Variant	nsv964092
Chromosome Location	chr4:120392750-120412350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:231)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:231 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:120399782-120400241	HepG2	liver:	n/a	n/a
2	CEBPB	chr4:120393080-120393273	HepG2	liver:	n/a	chr4:120393234-120393245 chr4:120393134-120393145 chr4:120393234-120393247
3	CEBPB	chr4:120398668-120398866	IMR90	lung:	n/a	chr4:120398802-120398815
4	CEBPB	chr4:120408397-120408422	IMR90	lung:	n/a	n/a
5	CTCF	chr4:120411460-120411610	HCM	heart:	n/a	n/a
6	CTCF	chr4:120411646-120411743	GM19238	blood:	n/a	n/a
7	CTCF	chr4:120411600-120411750	GM12869	blood:	n/a	n/a
8	CTCF	chr4:120411640-120411790	GM06990	blood:	n/a	n/a
9	CTCF	chr4:120411615-120411626	Lung_OC	lung:	n/a	n/a
10	CTCF	chr4:120411660-120411810	GM12864	blood:	n/a	n/a
11	CTCF	chr4:120411521-120411895	IMR90	lung:	n/a	n/a
12	CTCF	chr4:120411500-120411650	HFF	foreskin:	n/a	n/a
13	CTCF	chr4:120411620-120411770	NHLF	lung:	n/a	n/a
14	CTCF	chr4:120411580-120411730	HepG2	liver:	n/a	n/a
15	CTCF	chr4:120411600-120411800	MCF-7	breast:	n/a	n/a
16	CTCF	chr4:120411620-120411770	HFF-Myc	foreskin:	n/a	n/a
17	CTCF	chr4:120411640-120411790	HepG2	liver:	n/a	n/a
18	CTCF	chr4:120411641-120411759	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr4:120411660-120411810	Caco-2	colon:	n/a	n/a
20	CTCF	chr4:120411640-120411790	HRE	kidney:	n/a	n/a
21	CTCF	chr4:120411660-120411810	BE2_C	brain:	n/a	n/a
22	CTCF	chr4:120411580-120411730	HEEpiC	esophagus:	n/a	n/a
23	CTCF	chr4:120411600-120411750	HBMEC	blood vessel:	n/a	n/a
24	CTCF	chr4:120411505-120411895	GM12878	blood:	n/a	n/a
25	CTCF	chr4:120411640-120411790	AG04449	skin:	n/a	n/a
26	CTCF	chr4:120411640-120411790	AG04450	lung:	n/a	n/a
27	CTCF	chr4:120411560-120411710	GM12874	blood:	n/a	n/a
28	CTCF	chr4:120411629-120411802	GM13977	blood:	n/a	n/a
29	CTCF	chr4:120411701-120411714	GM13976	blood:	n/a	n/a
30	CTCF	chr4:120411620-120411770	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr4:120411540-120411690	HCM	heart:	n/a	n/a
32	CTCF	chr4:120411600-120411750	GM12875	blood:	n/a	n/a
33	CTCF	chr4:120411612-120411786	Gliobla	brain:	n/a	n/a
34	CTCF	chr4:120411720-120411870	RPTEC	kidney:	n/a	n/a
35	CTCF	chr4:120411620-120411770	HAc	cerebellar:	n/a	n/a
36	CTCF	chr4:120411660-120411810	GM12878	blood:	n/a	n/a
37	CTCF	chr4:120411700-120411850	HAc	cerebellar:	n/a	n/a
38	CTCF	chr4:120411600-120411750	Caco-2	colon:	n/a	n/a
39	CTCF	chr4:120411600-120411750	GM12872	blood:	n/a	n/a
40	CTCF	chr4:120411720-120411870	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr4:120411592-120411802	Medullo	brain:	n/a	n/a
42	CTCF	chr4:120411600-120411750	GM06990	blood:	n/a	n/a
43	CTCF	chr4:120411620-120411770	AG09319	gingival:	n/a	n/a
44	CTCF	chr4:120411680-120411830	HCM	heart:	n/a	n/a
45	CTCF	chr4:120411640-120411790	WERI-Rb-1	eye:	n/a	n/a
46	CTCF	chr4:120411640-120411790	HEK293	kidney:	n/a	n/a
47	CTCF	chr4:120411600-120411750	GM12864	blood:	n/a	n/a
48	CTCF	chr4:120411600-120411750	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr4:120411540-120411690	A549	lung:	n/a	n/a
50	CTCF	chr4:120411560-120411710	GM12868	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:120372429..120374699-chr4:120400382..120402462,2	K562	blood:
2	chr4:120395792..120397416-chr4:120401451..120404061,2	K562	blood:
3	chr4:120394266..120396422-chr4:120397553..120399819,3	K562	blood:
4	chr4:120221978..120223635-chr4:120393077..120397275,3	K562	blood:
5	chr4:120235330..120235847-chr4:120411289..120411806,2	MCF-7	breast:
6	chr4:120395792..120397416-chr4:120401451..120404061,2	K562	blood:
7	chr4:120401525..120403278-chr4:120407490..120410209,2	MCF-7	breast:
8	chr4:120394266..120396422-chr4:120397553..120399819,3	K562	blood:
9	chr4:120388467..120390905-chr4:120393709..120395328,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC110373.1-8	chr4:120396336-120396357	NONHSAT098084
2	lnc-AC110373.1-8	chr4:120400981-120401660	NONHSAT098084
3	lnc-AC110373.1-8	chr4:120409800-120409872	NONHSAT098084
4	lnc-AC110373.1-8	chr4:120401906-120402691	NONHSAT098084
5	lnc-AC110373.1-8	chr4:120409798-120409872	NONHSAT098085
6	lnc-AC110373.1-8	chr4:120395771-120396293	NONHSAT098084
7	lnc-AC110373.1-8	chr4:120402929-120403580	NONHSAT098084
8	lnc-AC110373.1-8	chr4:120399034-120399542	NONHSAT098084

No data

Variant related genes	Relation type
ENSG00000245958	TF binding region
ENSG00000164096	chromatin interactions
ENSG00000245958	chromatin interactions

Extended variants
information (count: 696 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:696 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188666755	chr4:120392761-120392762	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs544366034	chr4:120392835-120392836	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9993199	chr4:120392873-120392874	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs535589580	chr4:120392939-120392940	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145084175	chr4:120392958-120392959	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13107475	chr4:120393011-120393012	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs528885679	chr4:120393038-120393039	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148379316	chr4:120393060-120393061	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562541159	chr4:120393090-120393091	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs140645212	chr4:120393154-120393155	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs116225515	chr4:120393199-120393200	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs556983062	chr4:120393202-120393203	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs191680615	chr4:120393251-120393252	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs538910717	chr4:120393284-120393285	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs184483905	chr4:120393285-120393286	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs150482529	chr4:120393318-120393319	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs567335016	chr4:120393351-120393352	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs144196925	chr4:120393352-120393353	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs367919683	chr4:120393353-120393354	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs190088771	chr4:120393359-120393360	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs182142924	chr4:120393372-120393373	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs10015999	chr4:120393442-120393443	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs565886365	chr4:120393450-120393451	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs538740486	chr4:120393465-120393466	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs138166971	chr4:120393504-120393505	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs2389803	chr4:120393511-120393512	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs113820396	chr4:120393555-120393556	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs540561283	chr4:120393579-120393580	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs554066774	chr4:120393625-120393626	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs201272049	chr4:120393626-120393627	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs187266689	chr4:120393640-120393641	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs542610484	chr4:120393678-120393679	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs369523645	chr4:120393739-120393740	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs114607077	chr4:120393759-120393760	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs7436506	chr4:120393769-120393770	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs544776116	chr4:120393781-120393782	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs12499324	chr4:120393786-120393787	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs149559091	chr4:120393795-120393796	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs146585629	chr4:120393815-120393816	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs113112752	chr4:120393849-120393850	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs368727325	chr4:120393861-120393862	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs567588636	chr4:120393865-120393866	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs79613548	chr4:120393936-120393937	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs537653934	chr4:120393938-120393939	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs34507915	chr4:120393939-120393940	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs397948456	chr4:120393958-120393959	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs137872420	chr4:120393976-120393977	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs111687566	chr4:120393977-120393978	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs549796430	chr4:120394007-120394008	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs10018726	chr4:120394010-120394011	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:79)

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
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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Esophageal cancer	21851588	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:538 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120376400-120471600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:120376600-120397200	Weak transcription	Aorta	Aorta
3	chr4:120376600-120399000	Weak transcription	Stomach Mucosa	stomach
4	chr4:120376600-120401200	Weak transcription	Psoas Muscle	Psoas
5	chr4:120376600-120419200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:120377000-120416000	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:120377200-120393200	Weak transcription	Primary B cells from cord blood	blood
8	chr4:120377200-120397400	Weak transcription	Lung	lung
9	chr4:120377200-120400000	Weak transcription	Esophagus	oesophagus
10	chr4:120377200-120400600	Weak transcription	A549	lung
11	chr4:120377200-120401000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:120377200-120403400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr4:120377200-120415600	Weak transcription	Brain Substantia Nigra	brain
14	chr4:120377200-120416200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr4:120377200-120419600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:120377200-120433800	Weak transcription	Gastric	stomach
17	chr4:120377400-120393200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr4:120377400-120393400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr4:120377400-120395000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr4:120377400-120396400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr4:120377400-120397400	Weak transcription	Thymus	Thymus
22	chr4:120377400-120397400	Weak transcription	Hela-S3	cervix
23	chr4:120377400-120397800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:120377400-120398400	Weak transcription	Fetal Intestine Small	intestine
25	chr4:120377400-120399800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr4:120377400-120400200	Weak transcription	Ovary	ovary
27	chr4:120377400-120400400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr4:120377400-120400600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr4:120377400-120400600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr4:120377400-120401000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:120377400-120403000	Weak transcription	Fetal Brain Female	brain
32	chr4:120377400-120415200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr4:120377400-120416200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr4:120377400-120439000	Weak transcription	Small Intestine	intestine
35	chr4:120377400-120439000	Weak transcription	Spleen	Spleen
36	chr4:120377600-120393400	Weak transcription	Placenta	Placenta
37	chr4:120377600-120394200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr4:120377600-120396800	Weak transcription	HSMMtube	muscle
39	chr4:120377600-120397200	Weak transcription	Brain Angular Gyrus	brain
40	chr4:120377600-120400400	Weak transcription	Brain Germinal Matrix	brain
41	chr4:120377600-120401000	Weak transcription	HMEC	breast
42	chr4:120377600-120402200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:120377600-120403000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr4:120377600-120441000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr4:120377600-120501200	Weak transcription	Pancreas	Pancrea
46	chr4:120377800-120400800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:120383600-120395800	Strong transcription	Dnd41	blood
48	chr4:120384400-120439200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr4:120384600-120397000	Weak transcription	K562	blood
50	chr4:120384600-120400000	Weak transcription	Osteobl	bone

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