Variant report

Variant	nsv604533
Chromosome Location	chr6:114222710-114224975
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	FOSL2	chr6:114222672-114223163	SK-N-SH	brain:	n/a	chr6:114222952-114222962 chr6:114222952-114222962 chr6:114222953-114222962 chr6:114222952-114222962 chr6:114222952-114222962
2	MAX	chr6:114223599-114223799	NB4	blood:	n/a	n/a
3	POLR2A	chr6:114224954-114225056	GM12878	blood:	n/a	n/a
4	REST	chr6:114224710-114225535	PFSK-1	brain:	n/a	chr6:114224979-114224992 chr6:114224983-114224992
5	REST	chr6:114224907-114225127	SK-N-SH	brain:	n/a	chr6:114224979-114224992 chr6:114224983-114224992
6	REST	chr6:114224790-114225474	PFSK-1	brain:	n/a	chr6:114224979-114224992 chr6:114224983-114224992
7	REST	chr6:114224852-114225121	K562	blood:	n/a	chr6:114224979-114224992 chr6:114224983-114224992
8	SIN3AK20	chr6:114224922-114225393	PFSK-1	brain:	n/a	n/a
9	TAF1	chr6:114224940-114225435	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:114218743..114220678-chr6:114223116..114225137,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175967	TF binding region

Extended variants
information (count: 86 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2810160	chr6:114222710-114222711	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs77144324	chr6:114222737-114222738	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs546778572	chr6:114222807-114222808	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs568250261	chr6:114222820-114222821	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs149882275	chr6:114222821-114222822	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs62417426	chr6:114222829-114222830	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs550633627	chr6:114222836-114222837	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs374868696	chr6:114222893-114222894	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs568887888	chr6:114222894-114222895	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs539017714	chr6:114222895-114222896	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs557344524	chr6:114222911-114222912	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs78728131	chr6:114222946-114222947	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs34680958	chr6:114222987-114222988	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs534222865	chr6:114223116-114223117	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs564150289	chr6:114223180-114223181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370962954	chr6:114223200-114223201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183844217	chr6:114223231-114223232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139880623	chr6:114223271-114223272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143260381	chr6:114223279-114223280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs578161020	chr6:114223315-114223316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545388012	chr6:114223324-114223325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2810161	chr6:114223348-114223349	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs146740403	chr6:114223357-114223358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs352101	chr6:114223361-114223362	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs561868383	chr6:114223366-114223367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188813739	chr6:114223397-114223398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550524559	chr6:114223413-114223414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546786576	chr6:114223461-114223462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140343364	chr6:114223499-114223500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550912647	chr6:114223532-114223533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377048674	chr6:114223534-114223535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566126560	chr6:114223550-114223551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533075708	chr6:114223560-114223561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192820085	chr6:114223575-114223576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78913077	chr6:114223651-114223652	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs114287499	chr6:114223661-114223662	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs538409141	chr6:114223737-114223738	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs74398515	chr6:114223747-114223748	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs578114139	chr6:114223793-114223794	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs79348012	chr6:114223794-114223795	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs115879367	chr6:114223818-114223819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551121183	chr6:114223836-114223837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113256124	chr6:114223850-114223851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73768585	chr6:114223851-114223852	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs115438032	chr6:114223854-114223855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs352100	chr6:114223901-114223902	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs113590493	chr6:114223908-114223909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183992990	chr6:114223919-114223920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368890588	chr6:114223924-114223925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555609381	chr6:114223935-114223936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114215400-114222800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:114218000-114223200	Weak transcription	Colon Smooth Muscle	Colon
3	chr6:114222200-114223600	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr6:114222400-114223000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:114222400-114223000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:114222400-114223200	Weak transcription	NHDF-Ad	bronchial
7	chr6:114222600-114223400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr6:114222600-114223600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:114222800-114223000	Enhancers	HUVEC	blood vessel
10	chr6:114222800-114224000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:114222800-114224000	Enhancers	Fetal Muscle Leg	muscle
12	chr6:114223000-114223400	Enhancers	Osteobl	bone
13	chr6:114223000-114223600	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr6:114223000-114225200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:114223000-114225200	Weak transcription	HUVEC	blood vessel
16	chr6:114223200-114223400	Enhancers	Fetal Muscle Trunk	muscle
17	chr6:114223200-114223400	Enhancers	NHDF-Ad	bronchial
18	chr6:114223200-114223600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:114223200-114223800	Enhancers	Colon Smooth Muscle	Colon
20	chr6:114223200-114225600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:114223400-114223600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr6:114223400-114223600	Enhancers	Lung	lung
23	chr6:114223400-114223800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr6:114223400-114224000	Enhancers	HepG2	liver
25	chr6:114223400-114225000	Weak transcription	NHDF-Ad	bronchial
26	chr6:114223400-114225200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr6:114223400-114225200	Weak transcription	Osteobl	bone
28	chr6:114223600-114223800	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr6:114223600-114225000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:114223600-114225000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr6:114223600-114225200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:114223600-114225200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr6:114223800-114225000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr6:114223800-114225200	Weak transcription	Colon Smooth Muscle	Colon
35	chr6:114223800-114225200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr6:114224000-114225000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr6:114224000-114225000	Weak transcription	Fetal Muscle Leg	muscle
38	chr6:114224000-114225000	Weak transcription	HepG2	liver
39	chr6:114224400-114225000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr6:114224600-114226200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr6:114224800-114225000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:114224800-114225000	Enhancers	Stomach Smooth Muscle	stomach
43	chr6:114224800-114226000	Enhancers	Rectal Smooth Muscle	rectum
44	chr6:114224800-114226600	Enhancers	Fetal Stomach	stomach

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