Variant report

Variant	nsv980252
Chromosome Location	chr4:119990321-119991637
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:119991475-119991698	HepG2	liver:	n/a	chr4:119991609-119991620
2	CEBPB	chr4:119991439-119991800	HepG2	liver:	n/a	chr4:119991609-119991620
3	CEBPB	chr4:119991460-119991858	MCF-7	breast:	n/a	chr4:119991609-119991620
4	CEBPB	chr4:119991445-119991817	MCF-7	breast:	n/a	chr4:119991609-119991620
5	CEBPB	chr4:119991443-119991777	HepG2	liver:	n/a	chr4:119991609-119991620
6	CEBPB	chr4:119991437-119991779	A549	lung:	n/a	chr4:119991609-119991620
7	CEBPB	chr4:119991503-119991724	HepG2	liver:	n/a	chr4:119991609-119991620
8	CEBPD	chr4:119991496-119991722	HepG2	liver:	n/a	n/a
9	FOS	chr4:119991502-119991869	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr4:119991554-119991855	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr4:119991557-119991805	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr4:119991528-119991734	MCF10A-Er-Src	breast:	n/a	n/a
13	FOXA1	chr4:119991500-119991792	T-47D	breast:	n/a	n/a
14	FOXA1	chr4:119991380-119991850	HepG2	liver:	n/a	chr4:119991817-119991829
15	FOXA1	chr4:119991533-119991852	T-47D	breast:	n/a	chr4:119991817-119991829
16	MAX	chr4:119991512-119991700	NB4	blood:	n/a	n/a
17	MYC	chr4:119991479-119991825	MCF10A-Er-Src	breast:	n/a	n/a
18	MYC	chr4:119991517-119991836	MCF10A-Er-Src	breast:	n/a	n/a
19	MYC	chr4:119991576-119991650	NB4	blood:	n/a	n/a
20	POLR2A	chr4:119990942-119990946	MCF-7	breast:	n/a	n/a
21	POLR2A	chr4:119991613-119991658	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr4:119991021-119991201	ProgFib	skin:	n/a	n/a
23	REST	chr4:119991485-119991874	MCF-7	breast:	n/a	chr4:119991783-119991803 chr4:119991783-119991803
24	STAT3	chr4:119991450-119991772	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr4:119991525-119991746	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:119990940-119990990	LNCaP	prostate:	n/a
2	chr4:119990940-119990990	A549	lung:	n/a
3	chr4:119990940-119990990	HRCEpiC	kidney:	n/a
4	chr4:119990940-119990990	AG10803	skin:	n/a
5	chr4:119990940-119990990	ovcar-3	ovarian:	n/a
6	chr4:119990940-119990990	HAEpiC	amniotic membrane:	n/a
7	chr4:119990940-119990990	U87	brain:	n/a
8	chr4:119990940-119990990	HUVEC	blood vessel:	n/a
9	chr4:119990940-119990990	HCF	heart:	n/a
10	chr4:119990940-119990990	ECC-1	luminal epithelium:	n/a
11	chr4:119990940-119990990	NT2-D1	testis:	n/a
12	chr4:119990940-119990990	SK-N-SH	brain:	n/a
13	chr4:119990940-119990990	BJ	skin:	n/a
14	chr4:119990940-119990990	Jurkat	blood:	n/a
15	chr4:119990940-119990990	Caco-2	colon:	n/a
16	chr4:119990940-119990990	H1-hESC	embryonic stem cell:	embryo
17	chr4:119990940-119990990	SAEC	small airway:	n/a
18	chr4:119990940-119990990	HepG2	liver:	n/a
19	chr4:119990940-119990990	RPTEC	kidney:	n/a
20	chr4:119990940-119990990	BE2_C	brain:	n/a
21	chr4:119990940-119990990	AG09309	skin:	n/a
22	chr4:119990940-119990990	PANC-1	pancreas:	n/a
23	chr4:119990940-119990990	HRPEpiC	eye:	n/a
24	chr4:119990940-119990990	MCF10A-Er-Src	breast:	n/a
25	chr4:119990940-119990990	T-47D	breast:	n/a
26	chr4:119990940-119990990	IMR90	lung:	fetal
27	chr4:119990940-119990990	GM19239	blood:	n/a
28	chr4:119990940-119990990	Hela-S3	cervix:	n/a
29	chr4:119990940-119990990	CMK	blood:	n/a
30	chr4:119990940-119990990	HCM	heart:	n/a
31	chr4:119990940-119990990	HMEC	breast:	n/a
32	chr4:119990940-119990990	HEEpiC	esophagus:	n/a
33	chr4:119990940-119990990	HPAEpiC	pulmonary alveolar:	n/a
34	chr4:119990940-119990990	ProgFib	skin:	n/a
35	chr4:119990940-119990990	HRE	kidney:	n/a
36	chr4:119990940-119990990	AG04450	lung:	fetal
37	chr4:119990940-119990990	SK-N-MC	brain:	n/a
38	chr4:119990940-119990990	NB4	blood:	n/a
39	chr4:119990940-119990990	GM06990	blood:	n/a
40	chr4:119990940-119990990	HNPCEpiC	eye:	n/a
41	chr4:119990940-119990990	AG09319	gingival:	n/a
42	chr4:119990940-119990990	MCF-7	breast:	n/a
43	chr4:119990940-119990990	SKMC	muscle:	n/a
44	chr4:119990940-119990990	PFSK-1	brain:	n/a
45	chr4:119990940-119990990	NH-A	brain:	n/a
46	chr4:119990940-119990990	GM12891	blood:	n/a
47	chr4:119990940-119990990	K562	blood:	n/a
48	chr4:119990940-119990990	GM12892	blood:	n/a
49	chr4:119990940-119990990	HL-60	blood:	n/a
50	chr4:119990940-119990990	HIPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119988837..119992890-chr4:120132998..120134761,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-455G16.1.1-2	chr4:119990479-119991452	ENSG00000249356

No data

Variant related genes	Relation type
ENSG00000249356	TF binding region
ENSG00000249356	CpG island
ENSG00000178636	chromatin interactions
ENSG00000145390	chromatin interactions

Extended variants
information (count: 62 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574795705	chr4:119990324-119990325	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs538453587	chr4:119990326-119990327	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs537410722	chr4:119990330-119990331	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs150851345	chr4:119990339-119990340	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs139995446	chr4:119990362-119990363	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs368170760	chr4:119990364-119990365	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs58795803	chr4:119990365-119990366	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs186632972	chr4:119990402-119990403	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs10518309	chr4:119990442-119990443	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs138154465	chr4:119990482-119990483	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs531867425	chr4:119990483-119990484	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs398107912	chr4:119990494-119990495	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs553776459	chr4:119990499-119990500	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs530170808	chr4:119990596-119990597	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs116763829	chr4:119990643-119990644	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs34956336	chr4:119990644-119990645	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs28375177	chr4:119990653-119990654	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs374371173	chr4:119990721-119990722	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs199546362	chr4:119990722-119990723	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs147229510	chr4:119990723-119990724	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs70944829	chr4:119990724-119990725	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs62328721	chr4:119990756-119990757	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs6834642	chr4:119990791-119990792	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs192351238	chr4:119990815-119990816	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs35645982	chr4:119990829-119990830	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs542976093	chr4:119990850-119990851	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs183661987	chr4:119990860-119990861	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs562784747	chr4:119990868-119990869	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs187877408	chr4:119990888-119990889	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs570233445	chr4:119990926-119990927	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs192508149	chr4:119990935-119990936	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs12498258	chr4:119990940-119990941	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs182170053	chr4:119990941-119990942	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs187144854	chr4:119990978-119990979	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs554629189	chr4:119991008-119991009	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs149054519	chr4:119991032-119991033	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs574794125	chr4:119991059-119991060	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs144567333	chr4:119991082-119991083	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs533780270	chr4:119991100-119991101	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs563421666	chr4:119991192-119991193	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs576959854	chr4:119991265-119991266	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs35463421	chr4:119991303-119991304	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs35998054	chr4:119991327-119991328	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs544794527	chr4:119991328-119991329	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs564786084	chr4:119991351-119991352	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs191595820	chr4:119991357-119991358	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs547678241	chr4:119991360-119991361	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs10002998	chr4:119991367-119991368	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs564892211	chr4:119991378-119991379	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs139643772	chr4:119991387-119991388	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119967400-119994000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr4:119975800-119994000	Weak transcription	Right Ventricle	heart
3	chr4:119975800-120003000	Weak transcription	Left Ventricle	heart
4	chr4:119979200-119996400	Weak transcription	Aorta	Aorta
5	chr4:119980600-119994000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr4:119988800-119992200	Enhancers	HepG2	liver
7	chr4:119988800-119992600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:119989200-119992600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:119989400-119990400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:119989400-119990400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr4:119989400-119990400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:119989400-119990400	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr4:119989400-119992400	Enhancers	HMEC	breast
14	chr4:119989600-119990400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:119989600-119990400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:119989600-119990400	Enhancers	Colon Smooth Muscle	Colon
17	chr4:119989600-119990800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:119989600-119990800	Weak transcription	Esophagus	oesophagus
19	chr4:119989600-119991000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr4:119989600-119992800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:119989800-119990400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
22	chr4:119989800-119990400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:119989800-119990400	Enhancers	A549	lung
24	chr4:119989800-119990800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:119989800-119990800	Weak transcription	Placenta	Placenta
26	chr4:119989800-119990800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr4:119989800-119991600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr4:119989800-119991800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr4:119990000-119990400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr4:119990000-119990400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr4:119990000-119990400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr4:119990000-119990400	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr4:119990000-119991600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr4:119990000-119992800	Enhancers	NHEK	skin
35	chr4:119990200-119992200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr4:119990400-119991400	Weak transcription	A549	lung
37	chr4:119990400-119991600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr4:119990400-119994200	Weak transcription	Colon Smooth Muscle	Colon
39	chr4:119990800-119991000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:119990800-119991200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:119990800-119991400	Enhancers	Esophagus	oesophagus
42	chr4:119990800-119991400	Enhancers	Placenta	Placenta
43	chr4:119990800-119991800	Enhancers	Placenta Amnion	Placenta Amnion
44	chr4:119991000-119991400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr4:119991400-119991600	Enhancers	A549	lung
46	chr4:119991400-119991800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:119991600-119991800	Enhancers	Rectal Mucosa Donor 31	rectum

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