Variant report

Variant	nsv1023454
Chromosome Location	chr6:68238153-68438449
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:458)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:458 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr6:68268936-68269129	K562	blood:	n/a	n/a
2	ATF3	chr6:68270050-68270268	K562	blood:	n/a	n/a
3	BHLHE40	chr6:68269989-68270319	K562	blood:	n/a	n/a
4	CBX3	chr6:68332154-68332575	K562	blood:	n/a	n/a
5	CBX3	chr6:68344107-68344496	K562	blood:	n/a	n/a
6	CBX3	chr6:68332204-68332430	K562	blood:	n/a	n/a
7	CBX3	chr6:68384145-68384361	K562	blood:	n/a	n/a
8	CEBPB	chr6:68270047-68270243	K562	blood:	n/a	n/a
9	CEBPB	chr6:68252543-68252704	K562	blood:	n/a	chr6:68252565-68252576
10	CEBPB	chr6:68251426-68251964	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr6:68394017-68394325	K562	blood:	n/a	n/a
12	CEBPB	chr6:68339215-68339484	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr6:68410727-68410916	A549	lung:	n/a	chr6:68410857-68410868
14	CEBPB	chr6:68352610-68352810	A549	lung:	n/a	n/a
15	CEBPB	chr6:68252483-68252740	HepG2	liver:	n/a	chr6:68252565-68252576
16	CEBPB	chr6:68393903-68394333	IMR90	lung:	n/a	n/a
17	CEBPB	chr6:68252417-68252737	IMR90	lung:	n/a	chr6:68252565-68252576
18	CEBPB	chr6:68252469-68252626	H1-hESC	embryonic stem cell:	n/a	chr6:68252565-68252576
19	CEBPB	chr6:68339210-68339369	K562	blood:	n/a	n/a
20	CEBPB	chr6:68339191-68339465	K562	blood:	n/a	n/a
21	CEBPB	chr6:68277758-68278045	K562	blood:	n/a	n/a
22	CEBPB	chr6:68377739-68377882	K562	blood:	n/a	chr6:68377739-68377747
23	CEBPD	chr6:68363503-68363892	K562	blood:	n/a	n/a
24	CHD2	chr6:68270056-68270205	K562	blood:	n/a	n/a
25	CTCF	chr6:68404160-68404310	HFF-Myc	foreskin:	n/a	n/a
26	CTCF	chr6:68404080-68404230	SAEC	small airway:	n/a	n/a
27	CTCF	chr6:68404160-68404310	BE2_C	brain:	n/a	n/a
28	CTCF	chr6:68339040-68339190	GM12869	blood:	n/a	n/a
29	CTCF	chr6:68404200-68404350	HPAF	blood vessel:	n/a	n/a
30	CTCF	chr6:68404080-68404230	AG04449	skin:	n/a	n/a
31	CTCF	chr6:68404101-68404292	MCF-7	breast:	n/a	n/a
32	CTCF	chr6:68247280-68247430	WERI-Rb-1	eye:	n/a	n/a
33	CTCF	chr6:68404080-68404230	GM12878	blood:	n/a	n/a
34	CTCF	chr6:68243213-68243224	LNCaP	prostate:	n/a	n/a
35	CTCF	chr6:68393971-68394022	HepG2	liver:	n/a	n/a
36	CTCF	chr6:68404120-68404270	HBMEC	blood vessel:	n/a	n/a
37	CTCF	chr6:68404188-68404222	Medullo	brain:	n/a	n/a
38	CTCF	chr6:68404120-68404270	GM12871	blood:	n/a	n/a
39	CTCF	chr6:68404102-68404343	GM12878	blood:	n/a	n/a
40	CTCF	chr6:68247340-68247490	HEK293	kidney:	n/a	n/a
41	CTCF	chr6:68404139-68404242	MCF-7	breast:	n/a	n/a
42	CTCF	chr6:68404121-68404255	MCF-7	breast:	n/a	n/a
43	CTCF	chr6:68404109-68404304	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr6:68404260-68404410	NHDF-neo	bronchial:	n/a	n/a
45	CTCF	chr6:68404110-68404249	ProgFib	skin:	n/a	n/a
46	CTCF	chr6:68274465-68274493	LNCaP	prostate:	n/a	n/a
47	CTCF	chr6:68404108-68404109	ProgFib	skin:	n/a	n/a
48	CTCF	chr6:68403980-68404130	HFF	foreskin:	n/a	n/a
49	CTCF	chr6:68404140-68404290	HCPEpiC	choroid plexus:	n/a	n/a
50	CTCF	chr6:68404120-68404251	Gliobla	brain:	n/a	n/a

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:68311734..68314302-chr6:68583935..68586240,2	K562	blood:
2	chr6:68313957..68316752-chr6:68317166..68320588,3	K562	blood:
3	chr6:68344247..68347231-chr6:68348042..68351033,2	K562	blood:
4	chr6:68303209..68306059-chr6:68307817..68309668,2	K562	blood:
5	chr6:68303209..68306059-chr6:68307817..68309668,2	K562	blood:
6	chr6:68310865..68312507-chr6:68587249..68589737,2	K562	blood:
7	chr6:68344247..68347231-chr6:68348042..68351033,2	K562	blood:
8	chr6:68232238..68234249-chr6:68236363..68239045,2	K562	blood:
9	chr6:68357683..68359642-chr6:68370181..68373049,2	MCF-7	breast:
10	chr6:68292892..68295431-chr6:68738448..68740413,2	K562	blood:
11	chr6:68412434..68414327-chr6:68587582..68589254,2	K562	blood:
12	chr6:68413174..68415186-chr6:68423979..68425964,2	K562	blood:
13	chr6:68250130..68252164-chr6:68269615..68271748,2	MCF-7	breast:
14	chr6:68384869..68387346-chr6:68589720..68591224,2	K562	blood:
15	chr6:68307817..68309622-chr6:68313162..68315036,2	K562	blood:
16	chr6:68349476..68351287-chr6:68384246..68386682,2	K562	blood:
17	chr6:68413174..68415186-chr6:68423979..68425964,2	K562	blood:
18	chr13:82142712..82144212-chr6:68403629..68406116,2	K562	blood:
19	chr6:68403017..68405900-chr6:68588028..68590720,2	K562	blood:
20	chr6:68307817..68309622-chr6:68313162..68315036,2	K562	blood:
21	chr6:68371549..68373538-chr6:68376260..68378191,3	K562	blood:
22	chr6:68403765..68404346-chr6:102923949..102924449,2	MCF-7	breast:
23	chr6:68250130..68252164-chr6:68269615..68271748,2	MCF-7	breast:
24	chr6:68361466..68364465-chr6:68587796..68590691,2	K562	blood:
25	chr6:68357683..68359642-chr6:68370181..68373049,2	MCF-7	breast:
26	chr6:68349476..68351287-chr6:68384246..68386682,2	K562	blood:
27	chr6:68313957..68316752-chr6:68317166..68320588,3	K562	blood:
28	chr6:68238430..68239410-chr8:111072142..111072850,2	MCF-7	breast:
29	chr6:68427555..68429805-chr6:68594951..68597288,2	K562	blood:
30	chr6:68371549..68373538-chr6:68376260..68378191,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000206672	TF binding region
RNU6-280P	TF binding region

Extended variants
information (count: 2340 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:2340 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371307021	chr6:68238297-68238298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142144608	chr6:68238298-68238299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149002643	chr6:68238321-68238322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565754670	chr6:68238331-68238332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112332559	chr6:68238369-68238370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111776388	chr6:68238410-68238411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537059151	chr6:68238418-68238419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568801172	chr6:68238434-68238435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537339320	chr6:68238513-68238514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576087288	chr6:68238537-68238538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146353665	chr6:68238559-68238560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376140791	chr6:68238577-68238578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543478491	chr6:68238630-68238631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191853028	chr6:68238649-68238650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555418452	chr6:68238684-68238685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9363767	chr6:68238706-68238707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs541127276	chr6:68238718-68238719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114662520	chr6:68238774-68238775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559651921	chr6:68238777-68238778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572965587	chr6:68238786-68238787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533617641	chr6:68238815-68238816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs541855275	chr6:68238888-68238889	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs531318120	chr6:68238924-68238925	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs139631768	chr6:68238953-68238954	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs543362068	chr6:68238955-68238956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs11965586	chr6:68239051-68239052	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs75871547	chr6:68239178-68239179	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs552317692	chr6:68239205-68239206	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs144276307	chr6:68239215-68239216	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs3905221	chr6:68239224-68239225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs528174808	chr6:68239226-68239227	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs548251797	chr6:68239227-68239228	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs568050162	chr6:68239243-68239244	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs565931877	chr6:68239259-68239260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs114227251	chr6:68239260-68239261	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs183979907	chr6:68239282-68239283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs531122678	chr6:68239330-68239331	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs571096196	chr6:68239333-68239334	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs73449428	chr6:68239356-68239357	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs371790887	chr6:68239357-68239358	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs557051931	chr6:68250434-68250435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183629699	chr6:68250451-68250452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539478919	chr6:68250456-68250457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114611647	chr6:68250469-68250470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534442877	chr6:68250477-68250478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577423358	chr6:68250479-68250480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74509184	chr6:68250515-68250516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369264744	chr6:68250530-68250531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554521050	chr6:68250533-68250534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs80043604	chr6:68250546-68250547	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	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
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	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
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68236400-68238800	Weak transcription	Pancreas	Pancrea
2	chr6:68238800-68239000	ZNF genes & repeats	Pancreas	Pancrea
3	chr6:68238800-68239400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:68250400-68251200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:68251200-68252000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:68251800-68253000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:68252000-68252400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:68266200-68272800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:68268600-68268800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:68268800-68269000	Enhancers	K562	blood
11	chr6:68269000-68270000	Weak transcription	K562	blood
12	chr6:68269400-68269600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:68270000-68270400	Flanking Active TSS	K562	blood
14	chr6:68270400-68274600	Weak transcription	K562	blood
15	chr6:68272800-68273000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:68273000-68273200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:68274600-68275000	Enhancers	K562	blood
18	chr6:68284800-68285200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:68312200-68313000	Enhancers	Fetal Lung	lung
20	chr6:68313000-68317200	Weak transcription	Fetal Lung	lung
21	chr6:68313400-68313600	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr6:68313600-68316400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr6:68314600-68315000	Enhancers	Liver	Liver
24	chr6:68315000-68316400	Weak transcription	Liver	Liver
25	chr6:68316400-68317600	Enhancers	HUVEC	blood vessel
26	chr6:68316400-68318400	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr6:68316400-68318600	Enhancers	Liver	Liver
28	chr6:68316800-68317600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:68317200-68318600	Enhancers	Fetal Lung	lung
30	chr6:68331200-68333600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:68331800-68332800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:68338200-68339400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:68338400-68340000	Enhancers	HUVEC	blood vessel
34	chr6:68338600-68340600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:68338800-68339800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:68338800-68340400	Enhancers	Fetal Lung	lung
37	chr6:68338800-68341000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr6:68339000-68339600	Enhancers	NH-A	brain
39	chr6:68339000-68340600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:68339200-68340000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:68339400-68340000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:68339400-68340800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:68339600-68340200	Flanking Active TSS	NH-A	brain
44	chr6:68339800-68340200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:68339800-68340800	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr6:68340000-68340200	Active TSS	NHDF-Ad	bronchial
47	chr6:68340000-68340400	Flanking Active TSS	HUVEC	blood vessel
48	chr6:68340000-68340600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:68340000-68341400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr6:68340200-68340400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links