Variant report

Variant	nsv1017166
Chromosome Location	chr6:145677071-145808448
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	ARID3A	chr6:145693791-145693948	HepG2	liver:	n/a	n/a
2	BACH1	chr6:145775717-145775730	H1-hESC	embryonic stem cell:	n/a	n/a
3	CBX3	chr6:145796939-145797356	HCT-116	colon:	n/a	n/a
4	CBX3	chr6:145804157-145805141	HCT-116	colon:	n/a	n/a
5	CBX3	chr6:145804152-145805006	HCT-116	colon:	n/a	n/a
6	CCNT2	chr6:145782462-145782666	K562	blood:	n/a	n/a
7	CEBPB	chr6:145721142-145721454	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr6:145737588-145738049	HepG2	liver:	n/a	chr6:145737875-145737886 chr6:145737875-145737884
9	CEBPB	chr6:145772279-145772479	A549	lung:	n/a	chr6:145772362-145772373
10	CEBPB	chr6:145731116-145731322	A549	lung:	n/a	n/a
11	CEBPB	chr6:145737600-145738043	A549	lung:	n/a	chr6:145737875-145737886 chr6:145737875-145737884
12	CEBPB	chr6:145737576-145738026	K562	blood:	n/a	chr6:145737875-145737886 chr6:145737875-145737884
13	CEBPB	chr6:145804131-145805124	HCT-116	colon:	n/a	n/a
14	CEBPB	chr6:145772217-145772460	HepG2	liver:	n/a	chr6:145772362-145772373
15	CEBPB	chr6:145677532-145677727	A549	lung:	n/a	n/a
16	CEBPB	chr6:145789176-145789208	HepG2	liver:	n/a	n/a
17	CEBPB	chr6:145748338-145748641	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr6:145772204-145772548	Hela-S3	cervix:	n/a	chr6:145772362-145772373
19	CEBPB	chr6:145677663-145677716	HepG2	liver:	n/a	n/a
20	CEBPB	chr6:145695802-145696060	IMR90	lung:	n/a	chr6:145695895-145695906 chr6:145695926-145695937
21	CEBPB	chr6:145695749-145696094	HepG2	liver:	n/a	chr6:145695895-145695906 chr6:145695926-145695937
22	CEBPB	chr6:145695765-145696088	Hela-S3	cervix:	n/a	chr6:145695895-145695906 chr6:145695926-145695937
23	CEBPB	chr6:145695794-145696097	A549	lung:	n/a	chr6:145695895-145695906 chr6:145695926-145695937
24	CHD2	chr6:145693821-145694274	GM12878	blood:	n/a	n/a
25	CHD2	chr6:145699700-145699740	HepG2	liver:	n/a	n/a
26	CTCF	chr6:145774660-145774810	WERI-Rb-1	eye:	n/a	n/a
27	CTCF	chr6:145691780-145691930	HepG2	liver:	n/a	n/a
28	CTCF	chr6:145774600-145774750	GM12864	blood:	n/a	n/a
29	CTCF	chr6:145774680-145774724	HepG2	liver:	n/a	n/a
30	CTCF	chr6:145677338-145677391	Kidney_OC	kidney:	n/a	n/a
31	CTCF	chr6:145774600-145774750	HEEpiC	esophagus:	n/a	n/a
32	CTCF	chr6:145774580-145774730	GM12873	blood:	n/a	n/a
33	CTCF	chr6:145774660-145774810	GM12864	blood:	n/a	n/a
34	CTCF	chr6:145774760-145774910	HFF	foreskin:	n/a	n/a
35	CTCF	chr6:145691840-145691990	HEEpiC	esophagus:	n/a	n/a
36	CTCF	chr6:145774600-145774750	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr6:145774740-145774890	HAc	cerebellar:	n/a	n/a
38	CTCF	chr6:145774620-145774770	GM12873	blood:	n/a	n/a
39	CTCF	chr6:145774600-145774750	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCF	chr6:145774620-145774770	NHDF-neo	bronchial:	n/a	n/a
41	CTCF	chr6:145774540-145774690	NHEK	skin:	n/a	n/a
42	CTCF	chr6:145691803-145691940	MCF-7	breast:	n/a	n/a
43	CTCF	chr6:145762092-145762123	Gliobla	brain:	n/a	n/a
44	CTCF	chr6:145774620-145774770	HA-sp	spinal cord:	n/a	n/a
45	CTCF	chr6:145761980-145762130	GM12873	blood:	n/a	n/a
46	CTCF	chr6:145774626-145774768	HUVEC	blood vessel:	n/a	n/a
47	CTCF	chr6:145774640-145774790	HRPEpiC	eye:	n/a	n/a
48	CTCF	chr6:145691780-145691930	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr6:145691860-145692010	HCT-116	colon:	n/a	n/a
50	CTCF	chr6:145774620-145774770	GM12870	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:145730739..145732534-chr6:145734082..145737759,5	MCF-7	breast:
2	chr6:145673057..145675668-chr6:145676094..145678022,2	MCF-7	breast:
3	chr6:145711757..145713272-chr6:145716278..145717779,2	K562	blood:
4	chr6:145730739..145732534-chr6:145734082..145737759,5	MCF-7	breast:
5	chr6:145792477..145793145-chr8:116957626..116958159,2	MCF-7	breast:
6	chr6:145771174..145773408-chr6:145774580..145776268,2	K562	blood:
7	chr6:145667759..145669349-chr6:145686096..145687988,2	MCF-7	breast:
8	chr6:145698328..145700073-chr6:145704344..145706034,2	K562	blood:
9	chr6:145698328..145700073-chr6:145704344..145706034,2	K562	blood:
10	chr6:145670732..145673173-chr6:145676414..145678954,2	MCF-7	breast:
11	chr6:145771174..145773408-chr6:145774580..145776268,2	K562	blood:
12	chr6:145711757..145713272-chr6:145716278..145717779,2	K562	blood:

Variant related genes	Relation type
RNU1-33P	TF binding region

Extended variants
information (count: 3414 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:3414 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9390307	chr6:145677803-145677804	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572824228	chr6:145677804-145677805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149711612	chr6:145677844-145677845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369184997	chr6:145677846-145677847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541758574	chr6:145677855-145677856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544075648	chr6:145677883-145677884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562634750	chr6:145677913-145677914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375849635	chr6:145677914-145677915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533046050	chr6:145677939-145677940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145573260	chr6:145677948-145677949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566426269	chr6:145677995-145677996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192748071	chr6:145678017-145678018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547309897	chr6:145678024-145678025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182458301	chr6:145678046-145678047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189074059	chr6:145678064-145678065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557257568	chr6:145678107-145678108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77371681	chr6:145678150-145678151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539517980	chr6:145678169-145678170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530353210	chr6:145679003-145679004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115177312	chr6:145679105-145679106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545218469	chr6:145679157-145679158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560315034	chr6:145679192-145679193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143043341	chr6:145679309-145679310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs180899039	chr6:145679314-145679315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573247802	chr6:145679315-145679316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs151109491	chr6:145679316-145679317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369034690	chr6:145679323-145679324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529592924	chr6:145679340-145679341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141107431	chr6:145679358-145679359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562833171	chr6:145679372-145679373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184136328	chr6:145679373-145679374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536848073	chr6:145687428-145687429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555154825	chr6:145687429-145687430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528404304	chr6:145687430-145687431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112171154	chr6:145687435-145687436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs193143198	chr6:145687488-145687489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558766198	chr6:145687492-145687493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111740911	chr6:145687513-145687514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185678895	chr6:145687514-145687515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs3901447	chr6:145687579-145687580	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs529895283	chr6:145687642-145687643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541625176	chr6:145687740-145687741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567986415	chr6:145687743-145687744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376481590	chr6:145687770-145687771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563111829	chr6:145687777-145687778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4896793	chr6:145687798-145687799	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs190108606	chr6:145687855-145687856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs9484976	chr6:145687899-145687900	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs528132094	chr6:145687913-145687914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546239798	chr6:145687925-145687926	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Autism	22495311	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
lymphocytic leukemia	21291569	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
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:234 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145677800-145678200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:145679000-145679400	Enhancers	Fetal Heart	heart
3	chr6:145687400-145688200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:145688200-145688400	Enhancers	GM12878-XiMat	blood
5	chr6:145688400-145692800	Weak transcription	GM12878-XiMat	blood
6	chr6:145688600-145689600	Enhancers	Fetal Brain Male	brain
7	chr6:145689400-145689600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:145689400-145690000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:145689400-145690000	Enhancers	Fetal Heart	heart
10	chr6:145689600-145694200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:145690000-145692600	Weak transcription	Fetal Heart	heart
12	chr6:145690000-145695200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:145692600-145692800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr6:145692600-145693400	Enhancers	Fetal Heart	heart
15	chr6:145692800-145693000	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr6:145692800-145693000	Bivalent Enhancer	HepG2	liver
17	chr6:145692800-145693200	Enhancers	Left Ventricle	heart
18	chr6:145692800-145693200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr6:145692800-145693400	Enhancers	Primary T cells fromperipheralblood	blood
20	chr6:145692800-145693600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr6:145692800-145693800	ZNF genes & repeats	GM12878-XiMat	blood
22	chr6:145692800-145694400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr6:145693000-145693400	Enhancers	Right Atrium	heart
24	chr6:145693000-145693400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr6:145693000-145694200	Active TSS	NHDF-Ad	bronchial
26	chr6:145693000-145694400	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr6:145693000-145694800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr6:145693200-145693400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:145693200-145693400	Flanking Active TSS	NHLF	lung
30	chr6:145693200-145693800	Enhancers	Adipose Nuclei	Adipose
31	chr6:145693200-145694200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:145693200-145694200	Weak transcription	Left Ventricle	heart
33	chr6:145693200-145694200	Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr6:145693200-145694600	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr6:145693200-145695400	Enhancers	Stomach Mucosa	stomach
36	chr6:145693400-145693800	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr6:145693400-145693800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr6:145693400-145693800	Flanking Active TSS	Fetal Heart	heart
39	chr6:145693400-145694000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:145693400-145694000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:145693400-145694200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:145693400-145694200	Active TSS	Brain Anterior Caudate	brain
43	chr6:145693400-145694200	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr6:145693400-145694200	Active TSS	NHLF	lung
45	chr6:145693400-145694200	Active TSS	Osteobl	bone
46	chr6:145693400-145694600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:145693400-145695000	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr6:145693600-145694000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr6:145693600-145694200	Active TSS	Brain Hippocampus Middle	brain
50	chr6:145693600-145694200	Active TSS	Right Atrium	heart

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