Variant report

Variant	nsv819075
Chromosome Location	chr4:186541262-186542752
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:186541352-186541586	HepG2	liver:	n/a	chr4:186541460-186541471
2	MAFK	chr4:186541456-186541590	HepG2	liver:	n/a	chr4:186541537-186541551
3	MAFK	chr4:186541469-186541497	HepG2	liver:	n/a	n/a
4	SPI1	chr4:186541046-186541436	HL-60	blood:	n/a	n/a
5	TCF7L2	chr4:186541490-186541661	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:186541367-186541417	MCF-7	breast:	n/a
2	chr4:186541367-186541417	AG09309	skin:	n/a
3	chr4:186541367-186541417	ECC-1	luminal epithelium:	n/a
4	chr4:186541367-186541417	BE2_C	brain:	n/a
5	chr4:186541367-186541417	GM06990	blood:	n/a
6	chr4:186541367-186541417	AG04450	lung:	fetal
7	chr4:186541367-186541417	LNCaP	prostate:	n/a
8	chr4:186541367-186541417	HepG2	liver:	n/a
9	chr4:186541367-186541417	SK-N-SH_RA	brain:	n/a
10	chr4:186541367-186541417	SK-N-SH	brain:	n/a
11	chr4:186541367-186541417	H1-hESC	embryonic stem cell:	embryo
12	chr4:186541367-186541417	PFSK-1	brain:	n/a
13	chr4:186541367-186541417	HL-60	blood:	n/a
14	chr4:186541367-186541417	HAEpiC	amniotic membrane:	n/a
15	chr4:186541367-186541417	HEK293	kidney:	embryo
16	chr4:186541367-186541417	SAEC	small airway:	n/a
17	chr4:186541367-186541417	HCM	heart:	n/a
18	chr4:186541367-186541417	HCF	heart:	n/a
19	chr4:186541367-186541417	HMEC	breast:	n/a
20	chr4:186541367-186541417	Jurkat	blood:	n/a
21	chr4:186541367-186541417	GM19239	blood:	n/a
22	chr4:186541367-186541417	T-47D	breast:	n/a
23	chr4:186541367-186541417	NH-A	brain:	n/a
24	chr4:186541367-186541417	PANC-1	pancreas:	n/a
25	chr4:186541367-186541417	HCT-116	colon:	n/a
26	chr4:186541367-186541417	ProgFib	skin:	n/a
27	chr4:186541367-186541417	RPTEC	kidney:	n/a
28	chr4:186541367-186541417	HRE	kidney:	n/a
29	chr4:186541367-186541417	ovcar-3	ovarian:	n/a
30	chr4:186541367-186541417	MCF10A-Er-Src	breast:	n/a
31	chr4:186541367-186541417	HPAEpiC	pulmonary alveolar:	n/a
32	chr4:186541367-186541417	GM12892	blood:	n/a
33	chr4:186541367-186541417	GM12891	blood:	n/a
34	chr4:186541367-186541417	NHBE	bronchial:	n/a
35	chr4:186541367-186541417	SK-N-MC	brain:	n/a
36	chr4:186541367-186541417	HCPEpiC	choroid plexus:	n/a
37	chr4:186541367-186541417	HUVEC	blood vessel:	n/a
38	chr4:186541367-186541417	GM12878	blood:	n/a
39	chr4:186541367-186541417	IMR90	lung:	fetal
40	chr4:186541367-186541417	Hepatocyte	liver:	n/a
41	chr4:186541367-186541417	HIPEpiC	eye:	n/a
42	chr4:186541367-186541417	K562	blood:	n/a
43	chr4:186541367-186541417	NB4	blood:	n/a
44	chr4:186541367-186541417	U87	brain:	n/a
45	chr4:186541367-186541417	AG10803	skin:	n/a
46	chr4:186541367-186541417	HEEpiC	esophagus:	n/a
47	chr4:186541367-186541417	AG04449	skin:	fetal
48	chr4:186541367-186541417	NHDF-neo	bronchial:	n/a
49	chr4:186541367-186541417	Hela-S3	cervix:	n/a
50	chr4:186541367-186541417	HRCEpiC	kidney:	n/a

No data

Variant related genes	Relation type
SORBS2	TF binding region
SORBS2	CpG island

Extended variants
information (count: 63 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556253484	chr4:186541281-186541282	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs200276678	chr4:186541283-186541284	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs184117029	chr4:186541291-186541292	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs376740726	chr4:186541294-186541295	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs61753946	chr4:186541301-186541302	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs368046187	chr4:186541302-186541303	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs372304077	chr4:186541308-186541309	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs572627687	chr4:186541340-186541341	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs72718122	chr4:186541367-186541368	Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs146146865	chr4:186541407-186541408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375317201	chr4:186541418-186541419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148730370	chr4:186541424-186541425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563837321	chr4:186541428-186541429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188328146	chr4:186541431-186541432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530770330	chr4:186541502-186541503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142269666	chr4:186541515-186541516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561548428	chr4:186541522-186541523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111355345	chr4:186541567-186541568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547303122	chr4:186541584-186541585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73876132	chr4:186541596-186541597	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs73028067	chr4:186541619-186541620	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs549502257	chr4:186541620-186541621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569781898	chr4:186541644-186541645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535203693	chr4:186541648-186541649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555463645	chr4:186541664-186541665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572695996	chr4:186541687-186541688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140475341	chr4:186541699-186541700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558513937	chr4:186541704-186541705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs578174122	chr4:186541717-186541718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181153522	chr4:186541732-186541733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116817524	chr4:186541755-186541756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373617911	chr4:186541782-186541783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534778755	chr4:186541792-186541793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367905821	chr4:186541852-186541853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376065600	chr4:186541853-186541854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530795404	chr4:186541865-186541866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10030246	chr4:186541887-186541888	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs542763261	chr4:186541888-186541889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79205263	chr4:186541909-186541910	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527512868	chr4:186541914-186541915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs80220664	chr4:186541939-186541940	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11936868	chr4:186542041-186542042	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs533074478	chr4:186542048-186542049	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184104169	chr4:186542076-186542077	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145248561	chr4:186542098-186542099	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115113488	chr4:186542122-186542123	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147623647	chr4:186542162-186542163	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565756840	chr4:186542175-186542176	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142143627	chr4:186542293-186542294	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188640064	chr4:186542337-186542338	Weak transcription Strong transcription 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
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
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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	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
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Burkitt''s lymphoma	19759907	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17086460	CNVD
Autism	18414403	CNVD
Epilepsy	20502679	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186495400-186548000	Weak transcription	Esophagus	oesophagus
2	chr4:186509000-186576400	Weak transcription	Brain Angular Gyrus	brain
3	chr4:186509400-186564200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:186519000-186549200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:186519000-186577600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr4:186519200-186544000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:186519200-186545800	Weak transcription	Brain Hippocampus Middle	brain
8	chr4:186519200-186561000	Weak transcription	Fetal Kidney	kidney
9	chr4:186521200-186542000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:186521200-186542800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:186521200-186543800	Weak transcription	Brain Anterior Caudate	brain
12	chr4:186521200-186548600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:186521400-186544000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:186521600-186572200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:186523600-186577600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr4:186524200-186541400	Strong transcription	HSMMtube	muscle
17	chr4:186524600-186547400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr4:186527200-186542800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:186528400-186544000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:186528400-186544800	Weak transcription	Lung	lung
21	chr4:186529000-186545000	Weak transcription	Placenta	Placenta
22	chr4:186529400-186553400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:186530400-186544000	Weak transcription	Adipose Nuclei	Adipose
24	chr4:186530400-186545000	Weak transcription	Osteobl	bone
25	chr4:186530400-186546800	Strong transcription	Liver	Liver
26	chr4:186530800-186542600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr4:186532600-186560200	Weak transcription	Colonic Mucosa	Colon
28	chr4:186533000-186545600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr4:186533200-186552800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr4:186533800-186577600	Weak transcription	NH-A	brain
31	chr4:186534000-186544200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr4:186534400-186543800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr4:186534400-186577600	Weak transcription	HSMM	muscle
34	chr4:186535000-186559000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr4:186535200-186544400	Weak transcription	Spleen	Spleen
36	chr4:186535800-186545800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:186536200-186545200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr4:186536200-186547800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr4:186536400-186543800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr4:186537800-186542200	Strong transcription	Left Ventricle	heart
41	chr4:186538600-186545000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:186538600-186551000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr4:186538800-186552000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:186538800-186552800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:186538800-186566600	Weak transcription	Stomach Mucosa	stomach
46	chr4:186539000-186541400	Strong transcription	Pancreas	Pancrea
47	chr4:186539000-186541400	Strong transcription	HepG2	liver
48	chr4:186539000-186542000	Strong transcription	Fetal Brain Female	brain
49	chr4:186540000-186541400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr4:186540000-186542000	Strong transcription	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links