Variant report

Variant	nsv965781
Chromosome Location	chr6:160888474-160899827
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:111)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:111 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr6:160888615-160888846	K562	blood:	n/a	n/a
2	BATF	chr6:160898046-160898402	GM12878	blood:	n/a	n/a
3	BATF	chr6:160897968-160898303	GM12878	blood:	n/a	n/a
4	CEBPB	chr6:160894808-160895059	HepG2	liver:	n/a	chr6:160894925-160894936
5	CTCF	chr6:160888669-160888775	SK-N-SH_RA	brain:	n/a	n/a
6	CTCF	chr6:160888540-160888690	GM12871	blood:	n/a	n/a
7	CTCF	chr6:160888540-160888690	AG09319	gingival:	n/a	n/a
8	CTCF	chr6:160888760-160888910	GM12871	blood:	n/a	n/a
9	CTCF	chr6:160888540-160888690	GM12867	blood:	n/a	n/a
10	CTCF	chr6:160888680-160888830	GM12873	blood:	n/a	n/a
11	CTCF	chr6:160888672-160888682	GM12878	blood:	n/a	n/a
12	CTCF	chr6:160888540-160888690	HAc	cerebellar:	n/a	n/a
13	CTCF	chr6:160888540-160888690	HRPEpiC	eye:	n/a	n/a
14	CTCF	chr6:160888540-160888690	GM06990	blood:	n/a	n/a
15	CTCF	chr6:160888620-160888770	Caco-2	colon:	n/a	n/a
16	CTCF	chr6:160888420-160888570	HFF-Myc	foreskin:	n/a	n/a
17	CTCF	chr6:160888640-160888790	GM12873	blood:	n/a	n/a
18	CTCF	chr6:160888620-160888770	SAEC	small airway:	n/a	n/a
19	CTCF	chr6:160888620-160888770	HMF	breast:	n/a	n/a
20	CTCF	chr6:160888540-160888690	WI-38	lung:	n/a	n/a
21	CTCF	chr6:160888500-160888770	HEEpiC	esophagus:	n/a	n/a
22	CTCF	chr6:160888536-160888859	K562	blood:	n/a	n/a
23	CTCF	chr6:160888560-160888710	HCM	heart:	n/a	n/a
24	CTCF	chr6:160888620-160888701	MCF-7	breast:	n/a	n/a
25	CTCF	chr6:160888605-160888713	MCF-7	breast:	n/a	n/a
26	CTCF	chr6:160888571-160888710	A549	lung:	n/a	n/a
27	CTCF	chr6:160888584-160888738	MCF-7	breast:	n/a	n/a
28	CTCF	chr6:160898700-160898728	Fibrobl	skin:	n/a	n/a
29	CTCF	chr6:160888546-160888858	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr6:160888540-160888690	MCF-7	breast:	n/a	n/a
31	CTCF	chr6:160888620-160888770	HepG2	liver:	n/a	n/a
32	CTCF	chr6:160888560-160888710	AoAF	blood vessel:	n/a	n/a
33	CTCF	chr6:160888540-160888690	GM12865	blood:	n/a	n/a
34	CTCF	chr6:160888540-160888690	BE2_C	brain:	n/a	n/a
35	CTCF	chr6:160888520-160888670	BJ	skin:	n/a	n/a
36	CTCF	chr6:160888564-160888768	HepG2	liver:	n/a	n/a
37	CTCF	chr6:160888601-160888768	HepG2	liver:	n/a	n/a
38	CTCF	chr6:160888559-160888771	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr6:160888540-160888690	HRE	kidney:	n/a	n/a
40	CTCF	chr6:160888740-160888890	HFF	foreskin:	n/a	n/a
41	CTCF	chr6:160888620-160888770	HCFaa	heart:	n/a	n/a
42	CTCF	chr6:160888742-160888770	IMR90	lung:	n/a	n/a
43	CTCF	chr6:160888638-160888685	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr6:160888640-160888790	HBMEC	blood vessel:	n/a	n/a
45	CTCF	chr6:160888540-160888690	HPAF	blood vessel:	n/a	n/a
46	CTCF	chr6:160888620-160888770	GM12875	blood:	n/a	n/a
47	CTCF	chr6:160899600-160899750	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr6:160888594-160888704	MCF-7	breast:	n/a	n/a
49	CTCF	chr6:160888640-160888790	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr6:160888500-160888650	HEK293	kidney:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:160876492..160879466-chr6:160895352..160897823,2	K562	blood:

No data

Variant related genes	Relation type
LPAL2	TF binding region

Extended variants
information (count: 418 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:418 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373634678	chr6:160888479-160888480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540376207	chr6:160888495-160888496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556560749	chr6:160888505-160888506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528306203	chr6:160888533-160888534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544884263	chr6:160888552-160888553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565162233	chr6:160888578-160888579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530726818	chr6:160888588-160888589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs16891631	chr6:160888608-160888609	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs567152199	chr6:160888612-160888613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529809414	chr6:160888617-160888618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546756407	chr6:160888633-160888634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567054495	chr6:160888635-160888636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187277406	chr6:160888667-160888668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552819760	chr6:160888683-160888684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569493836	chr6:160888700-160888701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370095989	chr6:160888732-160888733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538161435	chr6:160888739-160888740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141330106	chr6:160888787-160888788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574781644	chr6:160888810-160888811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534015276	chr6:160888811-160888812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553879842	chr6:160888829-160888830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576949468	chr6:160888862-160888863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368903240	chr6:160888871-160888872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544767012	chr6:160888885-160888886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564939092	chr6:160888933-160888934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201678148	chr6:160888935-160888936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374388958	chr6:160888936-160888937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200370298	chr6:160888943-160888944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10636061	chr6:160888956-160888957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527851294	chr6:160889009-160889010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377031387	chr6:160889038-160889039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547871928	chr6:160889056-160889057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567611889	chr6:160889060-160889061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530199221	chr6:160889067-160889068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111489466	chr6:160889092-160889093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550230213	chr6:160889099-160889100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146994338	chr6:160889119-160889120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528673843	chr6:160889151-160889152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372665035	chr6:160889231-160889232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546695528	chr6:160889327-160889328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75398453	chr6:160889337-160889338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532254570	chr6:160889361-160889362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116256011	chr6:160889369-160889370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138078332	chr6:160889423-160889424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538523405	chr6:160889427-160889428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149543562	chr6:160889440-160889441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375572551	chr6:160889441-160889442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568423040	chr6:160889455-160889456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144160564	chr6:160889463-160889464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112697786	chr6:160889487-160889488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
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
Gastric cancer	17908304	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
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	19459884	CNVD
Hearing loss	19459884	CNVD
Microcephaly	19459884	CNVD
Coronary artery disease	17160897	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Coronary Disease	20032323	CNVD
Coronary Disease	20335594	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160884200-160904800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:160884400-160928200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:160884800-160902600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:160886000-160889600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:160886200-160894000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr6:160886400-160893600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr6:160887000-160888600	Strong transcription	Liver	Liver
8	chr6:160887400-160897000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:160887400-160902200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr6:160888400-160892000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr6:160888600-160893800	Weak transcription	Liver	Liver
12	chr6:160891000-160898600	Weak transcription	Aorta	Aorta
13	chr6:160891200-160894600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:160892000-160892400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:160892400-160893800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr6:160893600-160898000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr6:160893800-160897200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:160893800-160921800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:160893800-160923200	Strong transcription	Liver	Liver
20	chr6:160894000-160894400	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr6:160894000-160895200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:160894400-160897200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr6:160894400-160915200	Weak transcription	Esophagus	oesophagus
24	chr6:160894600-160894800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:160894600-160897400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr6:160894800-160923800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:160895200-160902600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:160896600-160898000	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr6:160897000-160897800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr6:160897000-160914200	Weak transcription	Gastric	stomach
31	chr6:160897200-160897800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr6:160897200-160897800	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr6:160897200-160898000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr6:160897400-160897800	Enhancers	Primary T cells from cord blood	blood
35	chr6:160897400-160897800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr6:160897400-160897800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr6:160897600-160897800	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr6:160897800-160901600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr6:160897800-160901800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr6:160897800-160902000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr6:160897800-160902600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr6:160897800-160908400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr6:160897800-160923000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr6:160898000-160902200	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr6:160898000-160908000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr6:160898000-160922800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr6:160898200-160902400	Weak transcription	Brain Hippocampus Middle	brain
48	chr6:160898200-160906200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr6:160898600-160899400	Strong transcription	Aorta	Aorta
50	chr6:160898600-160899600	Enhancers	HMEC	breast

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