Variant report

Variant	nsv970337
Chromosome Location	chr6:74034657-74048673
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	BATF	chr6:74039011-74039240	GM12878	blood:	n/a	chr6:74039112-74039123
2	BRCA1	chr6:74036465-74036666	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr6:74042652-74042942	A549	lung:	n/a	chr6:74042794-74042805 chr6:74042792-74042803
4	CEBPB	chr6:74042751-74042910	K562	blood:	n/a	chr6:74042794-74042805 chr6:74042792-74042803
5	CEBPB	chr6:74042628-74042973	HepG2	liver:	n/a	chr6:74042794-74042805 chr6:74042792-74042803
6	CEBPB	chr6:74042646-74042957	IMR90	lung:	n/a	chr6:74042794-74042805 chr6:74042792-74042803
7	CTCF	chr6:74036420-74036570	GM12871	blood:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530
8	CTCF	chr6:74036380-74036530	HRPEpiC	eye:	n/a	chr6:74036523-74036530
9	CTCF	chr6:74036420-74036570	GM12801	blood:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530
10	CTCF	chr6:74036460-74036610	HMEC	breast:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530
11	CTCF	chr6:74036420-74036570	SK-N-SH_RA	brain:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530
12	CTCF	chr6:74036416-74036644	Hela-S3	cervix:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530
13	CTCF	chr6:74036400-74036550	GM12864	blood:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530
14	CTCF	chr6:74036400-74036550	GM12872	blood:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530
15	CTCF	chr6:74036420-74036570	HRE	kidney:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530
16	CTCF	chr6:74036386-74036675	Medullo	brain:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530 chr6:74036649-74036656
17	CTCF	chr6:74036460-74036610	GM12878	blood:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530
18	CTCF	chr6:74036420-74036710	HFF	foreskin:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530 chr6:74036649-74036656
19	CTCF	chr6:74038436-74038510	GM10266	blood:	n/a	n/a
20	CTCF	chr6:74036458-74036625	GM20000	blood:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530
21	CTCF	chr6:74036440-74036590	GM12865	blood:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530
22	CTCF	chr6:74036440-74036590	HMF	breast:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530
23	CTCF	chr6:74036423-74036638	Pancreas_OC	pancreas:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530
24	CTCF	chr6:74036353-74036745	A549	lung:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530 chr6:74036649-74036656
25	CTCF	chr6:74036357-74036619	A549	lung:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530
26	CTCF	chr6:74036420-74036570	WERI-Rb-1	eye:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530
27	CTCF	chr6:74036460-74036610	HCM	heart:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530
28	CTCF	chr6:74036360-74036641	A549	lung:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530
29	CTCF	chr6:74036420-74036570	GM12875	blood:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530
30	CTCF	chr6:74036440-74036590	GM12869	blood:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530
31	CTCF	chr6:74036440-74036590	HEEpiC	esophagus:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530
32	CTCF	chr6:74036315-74036653	K562	blood:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530
33	CTCF	chr6:74036460-74036610	NHDF-neo	bronchial:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530
34	CTCF	chr6:74036420-74036570	MCF-7	breast:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530
35	CTCF	chr6:74036420-74036570	HA-sp	spinal cord:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530
36	CTCF	chr6:74036440-74036590	GM12872	blood:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530
37	CTCF	chr6:74036440-74036590	AG09319	gingival:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530
38	CTCF	chr6:74036460-74036610	GM12867	blood:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530
39	CTCF	chr6:74036460-74036610	AG09309	skin:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530
40	CTCF	chr6:74036500-74036650	HFF-Myc	foreskin:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530
41	CTCF	chr6:74036440-74036590	HCFaa	heart:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530
42	CTCF	chr6:74036460-74036610	SK-N-SH_RA	brain:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530
43	CTCF	chr6:74036755-74036762	GM12892	blood:	n/a	n/a
44	CTCF	chr6:74036480-74036630	HCPEpiC	choroid plexus:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530
45	CTCF	chr6:74036463-74036613	GM13976	blood:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530
46	CTCF	chr6:74036480-74036630	HAc	cerebellar:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530
47	CTCF	chr6:74036460-74036610	BE2_C	brain:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530
48	CTCF	chr6:74036249-74036771	HCT-116	colon:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530 chr6:74036649-74036656
49	CTCF	chr6:74036460-74036610	HUVEC	blood vessel:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530
50	CTCF	chr6:74036358-74036625	HepG2	liver:	n/a	chr6:74036516-74036534 chr6:74036511-74036532 chr6:74036523-74036530

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:74019132..74021037-chr6:74035102..74038001,2	MCF-7	breast:
2	chr6:73995073..73995767-chr6:74036342..74037050,3	MCF-7	breast:
3	chr6:74036160..74036840-chr6:74098186..74098994,2	MCF-7	breast:
4	chr6:23741380..23742211-chr6:74038683..74039276,2	MCF-7	breast:
5	chr6:74023411..74025387-chr6:74040340..74041969,2	K562	blood:
6	chr6:73995184..73996292-chr6:74036159..74036919,3	MCF-7	breast:
7	6:74039397-74041926..6:74099986-74112890	H1-hESC	embryonic stem cell:	embryo
8	chr6:73121709..73122634-chr6:74035964..74037244,6	MCF-7	breast:
9	chr6:74042687..74044679-chr6:74047911..74049640,2	MCF-7	breast:
10	6:74039397-74041926..6:74078047-74099067	H1-hESC	embryonic stem cell:	embryo
11	chr6:73121726..73122573-chr6:74036126..74036963,2	K562	blood:
12	chr6:73999200..74001425-chr6:74043357..74044950,2	MCF-7	breast:
13	chr6:73890367..73891378-chr6:74036227..74036958,3	MCF-7	breast:
14	6:74039397-74041926..6:74160392-74184826	K562	blood:
15	chr6:74042687..74044679-chr6:74047911..74049640,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C6orf221-4	chr6:74038219-74038740	NONHSAT113552
2	lnc-C6orf221-4	chr6:74037247-74037892	NONHSAT113552

Variant related genes	Relation type
PAICSP3	TF binding region
ENSG00000235174	chromatin interactions
ENSG00000135314	chromatin interactions
ENSG00000224221	chromatin interactions
ENSG00000203907	chromatin interactions
ENSG00000135297	chromatin interactions
ENSG00000239626	chromatin interactions
ENSG00000080007	chromatin interactions
ENSG00000164430	chromatin interactions
ENSG00000238464	chromatin interactions
ENSG00000231332	chromatin interactions
ENSG00000207023	chromatin interactions

Extended variants
information (count: 380 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:380 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528344249	chr6:74034676-74034677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144237007	chr6:74034678-74034679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531349805	chr6:74034683-74034684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538447493	chr6:74034729-74034730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116632873	chr6:74034745-74034746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568167831	chr6:74034794-74034795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568598044	chr6:74034827-74034828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs479732	chr6:74034841-74034842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554238981	chr6:74034873-74034874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572812535	chr6:74034917-74034918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540531037	chr6:74034918-74034919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559207285	chr6:74034943-74034944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577656553	chr6:74034951-74034952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544810083	chr6:74034999-74035000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs58452176	chr6:74035015-74035016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs386702666	chr6:74035066-74035067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115872237	chr6:74035068-74035069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542328665	chr6:74035116-74035117	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs560250678	chr6:74035136-74035137	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs377230882	chr6:74035144-74035145	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs368633473	chr6:74035184-74035185	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs527692338	chr6:74035198-74035199	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs546530055	chr6:74035235-74035236	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs35592974	chr6:74035238-74035239	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs4708049	chr6:74035275-74035276	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs550341834	chr6:74035279-74035280	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs141728186	chr6:74035310-74035311	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs539378244	chr6:74035311-74035312	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs375031881	chr6:74035345-74035346	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs181597728	chr6:74035349-74035350	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs554658917	chr6:74035350-74035351	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs566298409	chr6:74035358-74035359	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs12197821	chr6:74035405-74035406	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs186581972	chr6:74035423-74035424	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs544220970	chr6:74035458-74035459	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs74471808	chr6:74035467-74035468	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs191434526	chr6:74035506-74035507	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs145579774	chr6:74035549-74035550	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs151160433	chr6:74035569-74035570	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs77104266	chr6:74035607-74035608	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs144887601	chr6:74035609-74035610	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs575101017	chr6:74035615-74035616	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs369367484	chr6:74035694-74035695	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs182992799	chr6:74035720-74035721	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs188032443	chr6:74035738-74035739	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs572493033	chr6:74035739-74035740	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs546165223	chr6:74035805-74035806	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs564168159	chr6:74035851-74035852	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs189780697	chr6:74035854-74035855	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs111450390	chr6:74035856-74035857	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	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
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74029800-74035200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:74035200-74036000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:74036000-74037000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:74036200-74036400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr6:74036200-74036400	Enhancers	Fetal Brain Female	brain
6	chr6:74037000-74037200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:74037400-74038400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:74038600-74039400	Enhancers	GM12878-XiMat	blood
9	chr6:74039600-74044200	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links