Variant report

Variant	nsv965776
Chromosome Location	chr6:143811602-143816945
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:79)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:79 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:143815213-143815488	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr6:143815252-143815452	A549	lung:	n/a	n/a
3	CEBPB	chr6:143815280-143815456	K562	blood:	n/a	n/a
4	CEBPB	chr6:143815238-143815515	HepG2	liver:	n/a	n/a
5	IRF1	chr6:143815447-143815457	K562	blood:	n/a	n/a
6	NR2F2	chr6:143811979-143812331	K562	blood:	n/a	n/a
7	POLR2A	chr6:143811911-143811956	Gliobla	brain:	n/a	n/a
8	POLR2A	chr6:143811991-143812138	K562	blood:	n/a	n/a
9	POLR2A	chr6:143813781-143814326	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr6:143813072-143813131	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr6:143814704-143814805	MCF-7	breast:	n/a	n/a
12	POLR2A	chr6:143815351-143815368	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr6:143814241-143814292	K562	blood:	n/a	n/a
14	POLR2A	chr6:143814956-143815612	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr6:143811728-143811820	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr6:143812647-143812688	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr6:143811667-143812042	GM12878	blood:	n/a	n/a
18	POLR2A	chr6:143813001-143813155	HepG2	liver:	n/a	n/a
19	POLR2A	chr6:143815099-143815571	A549	lung:	n/a	n/a
20	POLR2A	chr6:143812560-143812707	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr6:143815462-143815518	MCF-7	breast:	n/a	n/a
22	POLR2A	chr6:143815380-143815675	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr6:143812273-143812460	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr6:143815187-143815299	K562	blood:	n/a	n/a
25	POLR2A	chr6:143813315-143813536	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr6:143814730-143814856	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr6:143813323-143813509	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr6:143814291-143814302	MCF-7	breast:	n/a	n/a
29	POLR2A	chr6:143812733-143812747	HepG2	liver:	n/a	n/a
30	POLR2A	chr6:143813633-143813877	K562	blood:	n/a	n/a
31	POLR2A	chr6:143815052-143815492	HepG2	liver:	n/a	n/a
32	POLR2A	chr6:143812758-143813116	HepG2	liver:	n/a	n/a
33	POLR2A	chr6:143812857-143813893	A549	lung:	n/a	n/a
34	POLR2A	chr6:143811413-143815844	K562	blood:	n/a	n/a
35	POLR2A	chr6:143815505-143815510	GM12878	blood:	n/a	n/a
36	POLR2A	chr6:143814875-143815133	K562	blood:	n/a	n/a
37	POLR2A	chr6:143811976-143812085	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr6:143814306-143814336	MCF-7	breast:	n/a	n/a
39	POLR2A	chr6:143811834-143812575	GM12892	blood:	n/a	n/a
40	POLR2A	chr6:143816305-143816600	K562	blood:	n/a	n/a
41	POLR2A	chr6:143812186-143812309	ProgFib	skin:	n/a	n/a
42	POLR2A	chr6:143811488-143813574	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr6:143812672-143812680	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr6:143811962-143812139	HepG2	liver:	n/a	n/a
45	POLR2A	chr6:143815168-143815315	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr6:143812100-143812628	A549	lung:	n/a	n/a
47	POLR2A	chr6:143812789-143813079	K562	blood:	n/a	n/a
48	POLR2A	chr6:143814772-143814860	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr6:143815363-143815381	K562	blood:	n/a	n/a
50	POLR2A	chr6:143811831-143812641	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:143815651..143818272-chr6:143830902..143832813,2	MCF-7	breast:
2	chr6:143801323..143803862-chr6:143812529..143814618,2	K562	blood:
3	chr6:143795819..143798252-chr6:143812938..143815043,2	K562	blood:
4	chr6:143804354..143808777-chr6:143809039..143815242,7	K562	blood:
5	chr6:143810260..143812960-chr6:143821812..143824158,2	MCF-7	breast:
6	chr6:143812225..143814473-chr6:143831303..143832883,2	MCF-7	breast:
7	chr2:142980447..142980950-chr6:143813184..143813684,2	MCF-7	breast:
8	chr6:143809422..143811493-chr6:143814046..143815770,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PEX3-1	chr6:143815657-143815842	ENSG00000229036.3
2	lnc-PEX3-1	chr6:143811561-143812243	ENSG00000229036.3
3	lnc-PEX3-1	chr6:143811842-143812243	ENSG00000229036.3

No data

Variant related genes	Relation type
VDAC1P8	TF binding region
ENSG00000229036	TF binding region
ENSG00000229036	chromatin interactions
ENSG00000034693	chromatin interactions
ENSG00000001036	chromatin interactions

Extended variants
information (count: 191 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:191 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140498068	chr6:143811651-143811652	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
2	rs531284480	chr6:143811657-143811658	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs181936427	chr6:143811674-143811675	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs9403495	chr6:143811698-143811699	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs528698010	chr6:143811797-143811798	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs150361480	chr6:143811810-143811811	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs568178212	chr6:143811821-143811822	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs147603398	chr6:143811910-143811911	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs550578983	chr6:143811924-143811925	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs569057266	chr6:143811930-143811931	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs114715606	chr6:143811944-143811945	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs573813073	chr6:143811973-143811974	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs223235	chr6:143812033-143812034	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs556441496	chr6:143812035-143812036	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs563619823	chr6:143812055-143812056	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs533751329	chr6:143812083-143812084	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs553031442	chr6:143812109-143812110	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs574617604	chr6:143812144-143812145	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	rs112271427	chr6:143812170-143812171	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
20	rs557366052	chr6:143812211-143812212	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs575557741	chr6:143812243-143812244	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
22	rs546428686	chr6:143812276-143812277	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs575911333	chr6:143812288-143812289	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs564648427	chr6:143812289-143812290	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs181206218	chr6:143812331-143812332	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs540863502	chr6:143812376-143812377	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs145327263	chr6:143812447-143812448	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs371750236	chr6:143812452-143812453	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs142275314	chr6:143812473-143812474	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs541816048	chr6:143812476-143812477	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs556039889	chr6:143812478-143812479	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs186237384	chr6:143812619-143812620	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs191479798	chr6:143812665-143812666	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs562466690	chr6:143812725-143812726	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs113678384	chr6:143812771-143812772	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs558636373	chr6:143812847-143812848	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs551617665	chr6:143812877-143812878	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs115568434	chr6:143812894-143812895	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs59501218	chr6:143812968-143812969	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs548808989	chr6:143812982-143812983	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs370723259	chr6:143812997-143812998	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs114231023	chr6:143813018-143813019	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs61077848	chr6:143813023-143813024	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs564374408	chr6:143813025-143813026	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs375580563	chr6:143813040-143813041	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs62429083	chr6:143813103-143813104	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs539466349	chr6:143813109-143813110	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs3842512	chr6:143813114-143813115	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs543160482	chr6:143813135-143813136	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs141677492	chr6:143813144-143813145	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Autism	22495311	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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:241 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143772600-143832000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:143772800-143815000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr6:143772800-143821200	Weak transcription	Psoas Muscle	Psoas
4	chr6:143773000-143814600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr6:143773000-143814800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:143773000-143815000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:143773000-143815000	Weak transcription	Colonic Mucosa	Colon
8	chr6:143773200-143827000	Weak transcription	Brain Germinal Matrix	brain
9	chr6:143773400-143814200	Weak transcription	K562	blood
10	chr6:143773400-143814600	Weak transcription	HUVEC	blood vessel
11	chr6:143773400-143814800	Weak transcription	Hela-S3	cervix
12	chr6:143773400-143815000	Weak transcription	A549	lung
13	chr6:143773400-143818200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr6:143773400-143832000	Weak transcription	Fetal Brain Male	brain
15	chr6:143774400-143819400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr6:143779000-143818200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:143779200-143816800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr6:143781000-143832000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:143783000-143814600	Weak transcription	Fetal Intestine Small	intestine
20	chr6:143783200-143818400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:143784600-143814800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr6:143784800-143814800	Weak transcription	NHLF	lung
23	chr6:143790200-143814800	Weak transcription	Small Intestine	intestine
24	chr6:143790200-143831600	Weak transcription	Esophagus	oesophagus
25	chr6:143790200-143831600	Weak transcription	Gastric	stomach
26	chr6:143791600-143811800	Weak transcription	Thymus	Thymus
27	chr6:143792800-143814800	Weak transcription	NHDF-Ad	bronchial
28	chr6:143793600-143819400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr6:143794000-143814600	Weak transcription	NH-A	brain
30	chr6:143794400-143814800	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr6:143794400-143814800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr6:143794400-143816000	Weak transcription	Brain Substantia Nigra	brain
33	chr6:143794600-143814800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr6:143794600-143819400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr6:143794800-143817800	Weak transcription	HSMMtube	muscle
36	chr6:143795000-143812000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr6:143795200-143827400	Weak transcription	Aorta	Aorta
38	chr6:143795400-143814800	Weak transcription	Osteobl	bone
39	chr6:143795800-143831800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr6:143796600-143814400	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr6:143796600-143814600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:143796600-143814600	Weak transcription	Brain Hippocampus Middle	brain
43	chr6:143797000-143814800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr6:143797000-143826600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:143797400-143811800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr6:143797400-143813400	Weak transcription	Fetal Intestine Large	intestine
47	chr6:143797400-143814600	Weak transcription	HepG2	liver
48	chr6:143797400-143815200	Weak transcription	Fetal Lung	lung
49	chr6:143797400-143819200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr6:143797600-143814600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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