Variant report

Variant	nsv984242
Chromosome Location	chr16:71401590-71404832
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	BHLHE40	chr16:71401214-71401599	K562	blood:	n/a	n/a
2	CEBPB	chr16:71404268-71404598	K562	blood:	n/a	n/a
3	CEBPB	chr16:71401397-71401597	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr16:71404350-71404509	Hela-S3	cervix:	n/a	n/a
5	CHD2	chr16:71401335-71401665	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr16:71401317-71401629	MCF-7	breast:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
7	CTCF	chr16:71401323-71401626	GM19240	blood:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
8	CTCF	chr16:71401328-71401606	HepG2	liver:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
9	CTCF	chr16:71401259-71401642	A549	lung:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
10	CTCF	chr16:71401352-71401593	SK-N-SH_RA	brain:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
11	CTCF	chr16:71401460-71401610	AG04450	lung:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
12	CTCF	chr16:71401076-71401889	SK-N-SH	brain:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
13	CTCF	chr16:71401440-71401590	GM12871	blood:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
14	CTCF	chr16:71401314-71401653	GM19238	blood:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
15	CTCF	chr16:71401333-71401615	GM10266	blood:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
16	CTCF	chr16:71401332-71401633	NHEK	skin:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
17	CTCF	chr16:71401440-71401590	BE2_C	brain:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
18	CTCF	chr16:71401235-71401662	H1-hESC	embryonic stem cell:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
19	CTCF	chr16:71401338-71401627	MCF-7	breast:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
20	CTCF	chr16:71401308-71401648	IMR90	lung:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
21	CTCF	chr16:71401354-71401647	GM13977	blood:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
22	CTCF	chr16:71401342-71401624	MCF-7	breast:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
23	CTCF	chr16:71401274-71401687	K562	blood:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
24	CTCF	chr16:71401334-71401629	Fibrobl	skin:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
25	CTCF	chr16:71401227-71401691	H1-hESC	embryonic stem cell:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
26	CTCF	chr16:71401361-71401629	Medullo	brain:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
27	CTCF	chr16:71401316-71401642	Gliobla	brain:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
28	CTCF	chr16:71401265-71401761	MCF-7	breast:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
29	CTCF	chr16:71401775-71401828	K562	blood:	n/a	n/a
30	CTCF	chr16:71401287-71401686	GM12878	blood:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
31	CTCF	chr16:71401354-71401623	ProgFib	skin:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
32	CTCF	chr16:71401342-71401626	K562	blood:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
33	CTCF	chr16:71401500-71401650	HAc	cerebellar:	n/a	n/a
34	CTCF	chr16:71401345-71401621	GM12878	blood:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
35	CTCF	chr16:71401353-71401620	Hela-S3	cervix:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
36	CTCF	chr16:71401370-71401597	HepG2	liver:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
37	CTCF	chr16:71401412-71401613	Spleen_OC	spleen:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
38	CTCF	chr16:71401306-71401611	HepG2	liver:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
39	CTCF	chr16:71401440-71401590	HMEC	breast:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
40	CTCF	chr16:71401440-71401590	GM12870	blood:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
41	CTCF	chr16:71401383-71401592	GM20000	blood:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
42	CTCF	chr16:71401367-71401618	LNCaP	prostate:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
43	CTCF	chr16:71401740-71401890	GM12866	blood:	n/a	n/a
44	CTCF	chr16:71401358-71401609	HUVEC	blood vessel:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
45	CTCF	chr16:71401322-71401647	GM19239	blood:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
46	CTCF	chr16:71401340-71401624	H1-hESC	embryonic stem cell:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
47	CTCF	chr16:71401376-71401606	LNCaP	prostate:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
48	CTCF	chr16:71401368-71401670	A549	lung:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
49	CTCF	chr16:71401262-71401667	K562	blood:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
50	CTCF	chr16:71401168-71401781	K562	blood:	n/a	chr16:71401473-71401491 chr16:71401474-71401490

No.	Distal block	Cell Line	Cell type
1	chr16:71033616..71034231-chr16:71400920..71401907,2	MCF-7	breast:
2	chr16:71033342..71034367-chr16:71401264..71401962,5	MCF-7	breast:
3	chr16:71400154..71401758-chr16:71407652..71409706,2	MCF-7	breast:
4	chr16:71401686..71403316-chr16:71406580..71408620,2	K562	blood:
5	chr16:71400999..71401956-chr16:71445867..71446859,3	K562	blood:
6	chr16:71391648..71392912-chr16:71401086..71401951,3	MCF-7	breast:
7	chr16:71400881..71402032-chr16:71446303..71446913,3	MCF-7	breast:

Variant related genes	Relation type
CALB2	TF binding region
ENSG00000172137	chromatin interactions

Extended variants
information (count: 136 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560006848	chr16:71401606-71401607	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs8058642	chr16:71401655-71401656	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs552091718	chr16:71401694-71401695	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs138067760	chr16:71401715-71401716	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs74025966	chr16:71401724-71401725	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs549691602	chr16:71401769-71401770	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs571837221	chr16:71401791-71401792	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs539211235	chr16:71401792-71401793	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs74025967	chr16:71401793-71401794	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs554577516	chr16:71401807-71401808	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs569362814	chr16:71401808-71401809	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs367671522	chr16:71401815-71401816	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs554919147	chr16:71401941-71401942	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs142659490	chr16:71401953-71401954	Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs534257319	chr16:71401963-71401964	Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs191447942	chr16:71401980-71401981	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577559132	chr16:71402000-71402001	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs183806314	chr16:71402025-71402026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556932504	chr16:71402031-71402032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575152026	chr16:71402057-71402058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75279202	chr16:71402064-71402065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538553619	chr16:71402078-71402079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553601713	chr16:71402118-71402119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537306407	chr16:71402123-71402124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144919531	chr16:71402164-71402165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559404658	chr16:71402251-71402252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527407917	chr16:71402282-71402283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369104475	chr16:71402283-71402284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545926579	chr16:71402292-71402293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138655266	chr16:71402326-71402327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73571839	chr16:71402342-71402343	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs144680337	chr16:71402360-71402361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372610854	chr16:71402371-71402372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561666297	chr16:71402399-71402400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375208704	chr16:71402403-71402404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568443355	chr16:71402409-71402410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529139948	chr16:71402438-71402439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577505736	chr16:71402442-71402443	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs151248373	chr16:71402444-71402445	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs548300926	chr16:71402492-71402493	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs566896914	chr16:71402494-71402495	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs533936970	chr16:71402515-71402516	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs62055048	chr16:71402545-71402546	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs148103598	chr16:71402600-71402601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6499511	chr16:71402607-71402608	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs556767159	chr16:71402621-71402622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78697599	chr16:71402653-71402654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536107639	chr16:71402701-71402702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113415051	chr16:71402711-71402712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375054855	chr16:71402712-71402713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	18923524	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71398200-71407000	Weak transcription	Right Atrium	heart
2	chr16:71398800-71419800	Weak transcription	Brain Germinal Matrix	brain
3	chr16:71399600-71405200	Weak transcription	Adipose Nuclei	Adipose
4	chr16:71399800-71401600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr16:71401200-71401800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr16:71401200-71402200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr16:71401600-71401800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr16:71401600-71402000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr16:71401800-71402000	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
10	chr16:71402000-71403400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr16:71402200-71413600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr16:71403600-71403800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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