Variant report

Variant	nsv601222
Chromosome Location	chr6:29114621-29138315
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:674)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:29114969-29115710	K562	blood:	n/a	chr6:29115098-29115109
2	CEBPB	chr6:29114947-29115751	IMR90	lung:	n/a	chr6:29115098-29115109
3	CEBPB	chr6:29114942-29115242	A549	lung:	n/a	chr6:29115098-29115109
4	CEBPB	chr6:29115465-29115665	A549	lung:	n/a	n/a
5	CEBPB	chr6:29114975-29115701	HepG2	liver:	n/a	chr6:29115098-29115109
6	CEBPB	chr6:29114877-29115699	Hela-S3	cervix:	n/a	chr6:29115098-29115109
7	CTCF	chr6:29133508-29133553	MCF-7	breast:	n/a	n/a
8	CTCF	chr6:29120590-29120655	GM10248	blood:	n/a	n/a
9	CTCF	chr6:29133537-29133577	MCF-7	breast:	n/a	n/a
10	CTCF	chr6:29127652-29127709	GM20000	blood:	n/a	n/a
11	E2F4	chr6:29137992-29138197	MCF10A-Er-Src	breast:	n/a	n/a
12	EP300	chr6:29114830-29115213	Hela-S3	cervix:	n/a	n/a
13	FOS	chr6:29126967-29127269	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr6:29127099-29127118	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr6:29127058-29127167	MCF10A-Er-Src	breast:	n/a	n/a
16	FOXA1	chr6:29135846-29136124	HepG2	liver:	n/a	chr6:29136048-29136063
17	MYC	chr6:29127843-29127849	MCF-7	breast:	n/a	n/a
18	MYC	chr6:29133416-29133644	MCF-7	breast:	n/a	chr6:29133609-29133619
19	MYC	chr6:29127857-29127991	MCF-7	breast:	n/a	n/a
20	MYC	chr6:29127818-29127841	MCF-7	breast:	n/a	n/a
21	MYC	chr6:29120450-29120536	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr6:29127597-29127607	MCF-7	breast:	n/a	n/a
23	POLR2A	chr6:29127417-29127628	MCF-7	breast:	n/a	n/a
24	POLR2A	chr6:29127668-29127863	MCF-7	breast:	n/a	n/a
25	POLR2A	chr6:29121275-29121415	GM12878	blood:	n/a	n/a
26	POLR2A	chr6:29133413-29133947	MCF-7	breast:	n/a	n/a
27	POLR2A	chr6:29133400-29133768	MCF-7	breast:	n/a	n/a
28	POLR2A	chr6:29127630-29127635	MCF-7	breast:	n/a	n/a
29	POLR2A	chr6:29127864-29128010	MCF-7	breast:	n/a	n/a
30	POLR2A	chr6:29137366-29137390	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr6:29127780-29128010	MCF-7	breast:	n/a	n/a
32	POLR2A	chr6:29133544-29133643	A549	lung:	n/a	n/a
33	POLR2A	chr6:29133948-29133958	MCF-7	breast:	n/a	n/a
34	POLR2A	chr6:29127439-29127594	MCF-7	breast:	n/a	n/a
35	PRDM1	chr6:29125805-29125945	Hela-S3	cervix:	n/a	n/a
36	STAT3	chr6:29127042-29127242	MCF10A-Er-Src	breast:	n/a	n/a
37	TAL1	chr6:29137248-29137393	K562	blood:	n/a	n/a
38	TBL1XR1	chr6:29119191-29119391	K562	blood:	n/a	n/a

(count:674 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29133505-29133555	HEEpiC	esophagus:	n/a
2	chr6:29133961-29134011	HCT-116	colon:	n/a
3	chr6:29134247-29134297	HEEpiC	esophagus:	n/a
4	chr6:29133505-29133555	HEEpiC	esophagus:	n/a
5	chr6:29133961-29134011	HCT-116	colon:	n/a
6	chr6:29134247-29134297	HEEpiC	esophagus:	n/a
7	chr6:29137756-29137806	MCF10A-Er-Src	breast:	n/a
8	chr6:29125104-29125154	NHBE	bronchial:	n/a
9	chr6:29127979-29128029	ECC-1	luminal epithelium:	n/a
10	chr6:29134247-29134297	H1-hESC	embryonic stem cell:	embryo
11	chr6:29125104-29125154	Caco-2	colon:	n/a
12	chr6:29127982-29128032	AG04450	lung:	fetal
13	chr6:29134247-29134297	A549	lung:	n/a
14	chr6:29125104-29125154	LNCaP	prostate:	n/a
15	chr6:29125104-29125154	A549	lung:	n/a
16	chr6:29133085-29133135	SAEC	small airway:	n/a
17	chr6:29127982-29128032	BE2_C	brain:	n/a
18	chr6:29127979-29128029	LNCaP	prostate:	n/a
19	chr6:29133972-29134022	HUVEC	blood vessel:	n/a
20	chr6:29127982-29128032	SK-N-SH	brain:	n/a
21	chr6:29130035-29130085	Caco-2	colon:	n/a
22	chr6:29134247-29134297	CMK	blood:	n/a
23	chr6:29134247-29134297	HEK293	kidney:	embryo
24	chr6:29127979-29128029	SAEC	small airway:	n/a
25	chr6:29133961-29134011	K562	blood:	n/a
26	chr6:29133505-29133555	SK-N-SH_RA	brain:	n/a
27	chr6:29127979-29128029	HUVEC	blood vessel:	n/a
28	chr6:29134247-29134297	AG04449	skin:	fetal
29	chr6:29130035-29130085	ovcar-3	ovarian:	n/a
30	chr6:29127979-29128029	RPTEC	kidney:	n/a
31	chr6:29137756-29137806	SK-N-SH_RA	brain:	n/a
32	chr6:29127979-29128029	GM19239	blood:	n/a
33	chr6:29127982-29128032	HCM	heart:	n/a
34	chr6:29127979-29128029	HepG2	liver:	n/a
35	chr6:29127871-29127921	HCM	heart:	n/a
36	chr6:29134247-29134297	HCM	heart:	n/a
37	chr6:29127871-29127921	HEK293	kidney:	embryo
38	chr6:29133085-29133135	SK-N-SH_RA	brain:	n/a
39	chr6:29125104-29125154	GM06990	blood:	n/a
40	chr6:29130035-29130085	AG04449	skin:	fetal
41	chr6:29133085-29133135	PrEC	prostate:	n/a
42	chr6:29133961-29134011	HRPEpiC	eye:	n/a
43	chr6:29127979-29128029	AG09309	skin:	n/a
44	chr6:29130035-29130085	RPTEC	kidney:	n/a
45	chr6:29134247-29134297	T-47D	breast:	n/a
46	chr6:29127979-29128029	PANC-1	pancreas:	n/a
47	chr6:29133961-29134011	HEK293	kidney:	embryo
48	chr6:29127979-29128029	ProgFib	skin:	n/a
49	chr6:29133505-29133555	U87	brain:	n/a
50	chr6:29133505-29133555	AG10803	skin:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:29116682..29119190-chr6:29125085..29127105,2	K562	blood:
2	chr6:29133273..29134852-chr6:29140182..29142699,2	K562	blood:
3	chr6:29016217..29018909-chr6:29120286..29121903,2	K562	blood:
4	chr6:29116682..29119190-chr6:29125085..29127105,2	K562	blood:

No data

Variant related genes	Relation type
OR2J2	TF binding region
OR2J2	CpG island
ENSG00000204700	chromatin interactions

Extended variants
information (count: 94 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3130718	chr6:29114621-29114622	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs567516751	chr6:29114666-29114667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568104202	chr6:29114684-29114685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs193242878	chr6:29114706-29114707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184458431	chr6:29114745-29114746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140728048	chr6:29114782-29114783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546247413	chr6:29114864-29114865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs3130719	chr6:29114907-29114908	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs535250808	chr6:29114913-29114914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550887284	chr6:29114990-29114991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556697006	chr6:29115050-29115051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576239388	chr6:29115053-29115054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368950818	chr6:29115067-29115068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188850539	chr6:29115084-29115085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557783020	chr6:29115085-29115086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572026524	chr6:29115093-29115094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150104754	chr6:29115109-29115110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138432801	chr6:29115201-29115202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533172218	chr6:29115310-29115311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140302704	chr6:29115374-29115375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs3129145	chr6:29133301-29133302	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs555741172	chr6:29133322-29133323	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs572434496	chr6:29133355-29133356	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs188861285	chr6:29133384-29133385	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs181272963	chr6:29133390-29133391	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs111963035	chr6:29133472-29133473	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs544031630	chr6:29133490-29133491	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs9501297	chr6:29133512-29133513	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs373210426	chr6:29133525-29133526	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs183866050	chr6:29133529-29133530	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs548765541	chr6:29133530-29133531	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs558940583	chr6:29133537-29133538	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs529638036	chr6:29133543-29133544	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs528051904	chr6:29133550-29133551	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs374306874	chr6:29133555-29133556	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs7382657	chr6:29133556-29133557	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs189208672	chr6:29133611-29133612	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs4947263	chr6:29133642-29133643	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs28796930	chr6:29133657-29133658	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs574570987	chr6:29133659-29133660	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs567307144	chr6:29133717-29133718	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs180687645	chr6:29133743-29133744	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs555549837	chr6:29133761-29133762	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs372362101	chr6:29133816-29133817	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs76653152	chr6:29133862-29133863	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs192476955	chr6:29133960-29133961	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs374700724	chr6:29133961-29133962	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs114070026	chr6:29133963-29133964	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs578261066	chr6:29133986-29133987	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs140476633	chr6:29133997-29133998	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29113800-29115400	Enhancers	Hela-S3	cervix
2	chr6:29114400-29114800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:29115000-29115200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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