Variant report

Variant	nsv538282
Chromosome Location	chr6:65699165-65735252
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	CEBPB	chr6:65714828-65715032	HepG2	liver:	n/a	chr6:65714880-65714891
2	CEBPB	chr6:65714814-65714999	A549	lung:	n/a	chr6:65714880-65714891
3	CEBPB	chr6:65716700-65717039	HepG2	liver:	n/a	chr6:65716874-65716885
4	CEBPB	chr6:65716699-65717038	H1-hESC	embryonic stem cell:	n/a	chr6:65716874-65716885
5	CTCF	chr6:65723560-65723710	GM12873	blood:	n/a	n/a
6	CTCF	chr6:65723565-65723648	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr6:65723580-65723730	K562	blood:	n/a	n/a
8	CTCF	chr6:65723463-65723778	GM12878	blood:	n/a	n/a
9	CTCF	chr6:65723520-65723670	BE2_C	brain:	n/a	n/a
10	CTCF	chr6:65723540-65723690	GM12864	blood:	n/a	n/a
11	CTCF	chr6:65723520-65723670	GM12873	blood:	n/a	n/a
12	CTCF	chr6:65723582-65723667	HUVEC	blood vessel:	n/a	n/a
13	CTCF	chr6:65714320-65714470	HepG2	liver:	n/a	n/a
14	CTCF	chr6:65723598-65723621	GM19238	blood:	n/a	n/a
15	CTCF	chr6:65731488-65731566	Lung_OC	lung:	n/a	n/a
16	CTCF	chr6:65714280-65714430	HBMEC	blood vessel:	n/a	n/a
17	CTCF	chr6:65714320-65714470	HEK293	kidney:	n/a	n/a
18	CTCF	chr6:65723560-65723710	GM12872	blood:	n/a	n/a
19	CTCF	chr6:65723540-65723690	GM12872	blood:	n/a	n/a
20	CTCF	chr6:65723540-65723690	GM12868	blood:	n/a	n/a
21	CTCF	chr6:65723460-65723610	GM12871	blood:	n/a	n/a
22	CTCF	chr6:65723547-65723695	MCF-7	breast:	n/a	n/a
23	CTCF	chr6:65723500-65723650	GM12867	blood:	n/a	n/a
24	CTCF	chr6:65723540-65723690	GM12874	blood:	n/a	n/a
25	CTCF	chr6:65723547-65723666	Gliobla	brain:	n/a	n/a
26	CTCF	chr6:65723620-65723770	HBMEC	blood vessel:	n/a	n/a
27	CTCF	chr6:65723480-65723630	GM12866	blood:	n/a	n/a
28	CTCF	chr6:65723523-65723653	HepG2	liver:	n/a	n/a
29	CTCF	chr6:65731412-65731453	GM13976	blood:	n/a	n/a
30	CTCF	chr6:65723560-65723710	GM12868	blood:	n/a	n/a
31	CTCF	chr6:65723520-65723670	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr6:65723520-65723670	HPAF	blood vessel:	n/a	n/a
33	CTCF	chr6:65723540-65723690	HepG2	liver:	n/a	n/a
34	CTCF	chr6:65723460-65723610	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr6:65723560-65723710	MCF-7	breast:	n/a	n/a
36	CTCF	chr6:65723540-65723690	NB4	blood:	n/a	n/a
37	CTCF	chr6:65723540-65723690	GM12865	blood:	n/a	n/a
38	CTCF	chr6:65733640-65733676	Fibrobl	skin:	n/a	n/a
39	CTCF	chr6:65723500-65723650	HEK293	kidney:	n/a	n/a
40	CTCF	chr6:65723620-65723648	ProgFib	skin:	n/a	n/a
41	CTCF	chr6:65723500-65723650	GM12872	blood:	n/a	n/a
42	CTCF	chr6:65723520-65723670	GM12878	blood:	n/a	n/a
43	CTCF	chr6:65723440-65723590	HCPEpiC	choroid plexus:	n/a	n/a
44	CTCF	chr6:65723540-65723690	HEK293	kidney:	n/a	n/a
45	CTCF	chr6:65723572-65723673	MCF-7	breast:	n/a	n/a
46	ELK1	chr6:65732357-65732358	GM12878	blood:	n/a	n/a
47	FOXA1	chr6:65700635-65700887	HepG2	liver:	n/a	chr6:65700771-65700786 chr6:65700731-65700746
48	FOXA2	chr6:65700651-65700868	HepG2	liver:	n/a	n/a
49	JUN	chr6:65725450-65725661	HepG2	liver:	n/a	chr6:65725587-65725600 chr6:65725591-65725600
50	JUND	chr6:65728728-65728928	HepG2	liver:	n/a	chr6:65728844-65728853

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:65695796..65698770-chr6:65700016..65702026,2	K562	blood:

Variant related genes	Relation type
ENSG00000256352	TF binding region

Extended variants
information (count: 1017 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1017 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373148243	chr6:65699196-65699197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146584388	chr6:65699199-65699200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190925969	chr6:65699204-65699205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71553508	chr6:65699286-65699287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs67811515	chr6:65699288-65699289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs72077653	chr6:65699299-65699300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183192300	chr6:65699309-65699310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13205619	chr6:65699310-65699311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2349997	chr6:65699311-65699312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141186637	chr6:65699312-65699313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372288581	chr6:65699356-65699357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549850886	chr6:65699375-65699376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188073748	chr6:65699466-65699467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145020013	chr6:65699490-65699491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552728149	chr6:65699505-65699506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546902805	chr6:65699516-65699517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565319078	chr6:65699664-65699665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138879468	chr6:65699693-65699694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs3033931	chr6:65699694-65699695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9345579	chr6:65699696-65699697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540972262	chr6:65699717-65699718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs70999183	chr6:65699719-65699720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9345580	chr6:65699723-65699724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369984295	chr6:65699725-65699726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9354198	chr6:65699727-65699728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs66591902	chr6:65699781-65699782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs548263297	chr6:65699834-65699835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138747548	chr6:65699852-65699853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537158452	chr6:65699868-65699869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538108612	chr6:65699876-65699877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2349996	chr6:65699896-65699897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs570682322	chr6:65699929-65699930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs80151524	chr6:65700040-65700041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553338758	chr6:65700050-65700051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148915275	chr6:65700063-65700064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542293108	chr6:65700088-65700089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555822985	chr6:65700130-65700131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568218418	chr6:65700231-65700232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575610744	chr6:65700262-65700263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76960013	chr6:65700352-65700353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564486258	chr6:65700361-65700362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535328235	chr6:65700370-65700371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533379905	chr6:65700376-65700377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540499662	chr6:65700388-65700389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560496407	chr6:65700437-65700438	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528066515	chr6:65700439-65700440	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190372189	chr6:65700451-65700452	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568049567	chr6:65700461-65700462	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143546395	chr6:65700495-65700496	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554235418	chr6:65700548-65700549	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65697600-65700000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:65698200-65699200	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr6:65698200-65705000	Weak transcription	Pancreas	Pancrea
4	chr6:65699000-65699200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:65699000-65700400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:65700000-65700400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:65700400-65700600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr6:65700400-65700800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:65700800-65701800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:65705000-65705200	Enhancers	Pancreas	Pancrea
11	chr6:65705200-65706200	Weak transcription	Pancreas	Pancrea
12	chr6:65706200-65707000	Enhancers	Pancreas	Pancrea
13	chr6:65706400-65707000	Enhancers	Fetal Heart	heart
14	chr6:65707000-65716000	Weak transcription	Pancreas	Pancrea
15	chr6:65707400-65707600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr6:65707600-65709400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr6:65708400-65712000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:65709200-65709800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr6:65709400-65709600	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr6:65709400-65709800	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr6:65709600-65709800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr6:65712000-65715000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:65716000-65716200	Enhancers	Pancreas	Pancrea
24	chr6:65716400-65716800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr6:65716400-65717000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr6:65716600-65717000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr6:65716600-65717000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr6:65730400-65731000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:65731000-65740200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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