Variant report

Variant	nsv970707
Chromosome Location	chr6:141958106-141962977
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	CTCF	chr6:141962680-141962830	HMF	breast:	n/a	chr6:141962741-141962759 chr6:141962743-141962764
2	CTCF	chr6:141962620-141962770	AG09319	gingival:	n/a	chr6:141962741-141962759 chr6:141962743-141962764
3	CTCF	chr6:141962660-141962810	BJ	skin:	n/a	chr6:141962741-141962759 chr6:141962743-141962764
4	CTCF	chr6:141962580-141962730	HFF	foreskin:	n/a	n/a
5	CTCF	chr6:141962660-141962810	HPF	lung:	n/a	chr6:141962741-141962759 chr6:141962743-141962764
6	CTCF	chr6:141962603-141962918	IMR90	lung:	n/a	chr6:141962741-141962759 chr6:141962743-141962764
7	CTCF	chr6:141962502-141963021	HCT-116	colon:	n/a	chr6:141962741-141962759 chr6:141962743-141962764
8	CTCF	chr6:141962680-141962830	HCPEpiC	choroid plexus:	n/a	chr6:141962741-141962759 chr6:141962743-141962764
9	CTCF	chr6:141962640-141962790	AoAF	blood vessel:	n/a	chr6:141962741-141962759 chr6:141962743-141962764
10	CTCF	chr6:141962700-141962850	AG09309	skin:	n/a	chr6:141962741-141962759 chr6:141962743-141962764
11	CTCF	chr6:141962620-141962770	NHDF-neo	bronchial:	n/a	chr6:141962741-141962759 chr6:141962743-141962764
12	CTCF	chr6:141962680-141962830	AG09319	gingival:	n/a	chr6:141962741-141962759 chr6:141962743-141962764
13	CTCF	chr6:141962620-141962770	AG04450	lung:	n/a	chr6:141962741-141962759 chr6:141962743-141962764
14	CTCF	chr6:141962680-141962830	AG10803	skin:	n/a	chr6:141962741-141962759 chr6:141962743-141962764
15	CTCF	chr6:141962640-141962790	HCPEpiC	choroid plexus:	n/a	chr6:141962741-141962759 chr6:141962743-141962764
16	CTCF	chr6:141962709-141962813	LNCaP	prostate:	n/a	chr6:141962741-141962759 chr6:141962743-141962764
17	CTCF	chr6:141962780-141962930	AG04450	lung:	n/a	n/a
18	CTCF	chr6:141962620-141962770	AoAF	blood vessel:	n/a	chr6:141962741-141962759 chr6:141962743-141962764
19	CTCF	chr6:141962640-141962790	HMEC	breast:	n/a	chr6:141962741-141962759 chr6:141962743-141962764
20	CTCF	chr6:141962760-141962910	NHDF-neo	bronchial:	n/a	n/a
21	CTCF	chr6:141962740-141962890	AG10803	skin:	n/a	chr6:141962741-141962759 chr6:141962743-141962764
22	CTCF	chr6:141962721-141962838	Lung_OC	lung:	n/a	chr6:141962741-141962759 chr6:141962743-141962764
23	CTCF	chr6:141962700-141962850	HPAF	blood vessel:	n/a	chr6:141962741-141962759 chr6:141962743-141962764
24	CTCF	chr6:141962707-141962793	Medullo	brain:	n/a	chr6:141962741-141962759 chr6:141962743-141962764
25	CTCF	chr6:141962680-141962830	HMEC	breast:	n/a	chr6:141962741-141962759 chr6:141962743-141962764
26	CTCF	chr6:141962620-141962770	MCF-7	breast:	n/a	chr6:141962741-141962759 chr6:141962743-141962764
27	CTCF	chr6:141962640-141962790	HAc	cerebellar:	n/a	chr6:141962741-141962759 chr6:141962743-141962764
28	CTCF	chr6:141962700-141962850	RPTEC	kidney:	n/a	chr6:141962741-141962759 chr6:141962743-141962764
29	E2F4	chr6:141962509-141962815	MCF10A-Er-Src	breast:	n/a	n/a
30	E2F4	chr6:141961216-141961396	MCF10A-Er-Src	breast:	n/a	n/a
31	MAZ	chr6:141962623-141962748	HepG2	liver:	n/a	n/a
32	POLR2A	chr6:141958685-141959009	H1-neurons	neurons:	n/a	n/a
33	POLR2A	chr6:141960499-141960680	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr6:141959134-141959178	MCF10A-Er-Src	breast:	n/a	n/a
35	RAD21	chr6:141962482-141963011	HCT-116	colon:	n/a	chr6:141962742-141962761
36	RAD21	chr6:141962602-141962863	SK-N-SH_RA	brain:	n/a	chr6:141962742-141962761
37	RAD21	chr6:141962657-141962857	H1-hESC	embryonic stem cell:	n/a	chr6:141962742-141962761
38	RAD21	chr6:141962560-141962878	HCT-116	colon:	n/a	chr6:141962742-141962761
39	RAD21	chr6:141962632-141962826	H1-hESC	embryonic stem cell:	n/a	chr6:141962742-141962761
40	RAD21	chr6:141962613-141962922	Hela-S3	cervix:	n/a	chr6:141962742-141962761
41	RAD21	chr6:141962609-141962858	IMR90	lung:	n/a	chr6:141962742-141962761
42	RAD21	chr6:141962593-141963007	MCF-7	breast:	n/a	chr6:141962742-141962761
43	RFX5	chr6:141958197-141958212	K562	blood:	n/a	n/a
44	STAT3	chr6:141961773-141961973	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:141962578..141963250-chr6:142366256..142367149,2	MCF-7	breast:
2	chr22:21982581..21985457-chr6:141960441..141962007,2	K562	blood:

Variant related genes	Relation type
RPS3AP23	TF binding region
ENSG00000161179	chromatin interactions

Extended variants
information (count: 78 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78334570	chr6:141958410-141958411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373900956	chr6:141958508-141958509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371661980	chr6:141958570-141958571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532012315	chr6:141958613-141958614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376998220	chr6:141958616-141958617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs117606134	chr6:141958617-141958618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186843330	chr6:141958673-141958674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575571789	chr6:141958695-141958696	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs191688375	chr6:141958698-141958699	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs148513980	chr6:141958712-141958713	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs530982704	chr6:141958731-141958732	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs552755534	chr6:141958764-141958765	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs554636369	chr6:141958923-141958924	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs11758981	chr6:141958935-141958936	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs546675310	chr6:141958961-141958962	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs568509345	chr6:141959000-141959001	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs75568118	chr6:141959009-141959010	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs536810267	chr6:141959139-141959140	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs375641497	chr6:141959142-141959143	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs558725026	chr6:141959146-141959147	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs576815095	chr6:141959147-141959148	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs540873681	chr6:141959169-141959170	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs78174109	chr6:141960571-141960572	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs562944729	chr6:141960577-141960578	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs188442168	chr6:141960589-141960590	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs552477198	chr6:141960612-141960613	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs570530074	chr6:141960664-141960665	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs534783923	chr6:141960699-141960700	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs561699801	chr6:141960701-141960702	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs575297639	chr6:141960747-141960748	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs546400597	chr6:141960866-141960867	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs540222581	chr6:141960895-141960896	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs137868290	chr6:141960903-141960904	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs535222102	chr6:141960927-141960928	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs550837908	chr6:141960943-141960944	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs528426963	chr6:141960947-141960948	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs556530016	chr6:141960967-141960968	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs191994890	chr6:141960989-141960990	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs539725099	chr6:141960999-141961000	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs149035272	chr6:141961028-141961029	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs573473653	chr6:141961074-141961075	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs184863915	chr6:141961086-141961087	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs187726196	chr6:141961134-141961135	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs200050201	chr6:141961147-141961148	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs111729019	chr6:141961157-141961158	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs544755281	chr6:141961241-141961242	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs559796016	chr6:141961262-141961263	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs368503903	chr6:141961274-141961275	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs562721940	chr6:141961312-141961313	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs533389094	chr6:141961316-141961317	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Gastric cancer	17908304	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
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
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141958400-141959000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links