Variant report

Variant	nsv883526
Chromosome Location	chr6:29129983-29167575
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:41)
CpG islands
(count:855)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:41 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:29157980-29157997	HepG2	liver:	n/a	n/a
2	CTCF	chr6:29149656-29149684	HepG2	liver:	n/a	n/a
3	CTCF	chr6:29149732-29149752	K562	blood:	n/a	n/a
4	CTCF	chr6:29141590-29141622	GM10248	blood:	n/a	n/a
5	CTCF	chr6:29133508-29133553	MCF-7	breast:	n/a	n/a
6	CTCF	chr6:29149666-29149763	GM19240	blood:	n/a	n/a
7	CTCF	chr6:29133537-29133577	MCF-7	breast:	n/a	n/a
8	CTCF	chr6:29152898-29152982	GM13976	blood:	n/a	n/a
9	CTCF	chr6:29141649-29141716	LNCaP	prostate:	n/a	n/a
10	CTCF	chr6:29149663-29149665	GM19240	blood:	n/a	n/a
11	CTCF	chr6:29161925-29162065	LNCaP	prostate:	n/a	n/a
12	CTCF	chr6:29149648-29149802	MCF-7	breast:	n/a	n/a
13	CTCF	chr6:29149658-29149777	MCF-7	breast:	n/a	n/a
14	CTCF	chr6:29149659-29149802	MCF-7	breast:	n/a	n/a
15	CTCF	chr6:29149660-29149794	MCF-7	breast:	n/a	n/a
16	CTCF	chr6:29153645-29153736	Lung_OC	lung:	n/a	n/a
17	CTCF	chr6:29149659-29149799	MCF-7	breast:	n/a	n/a
18	E2F4	chr6:29137992-29138197	MCF10A-Er-Src	breast:	n/a	n/a
19	EP300	chr6:29140245-29140328	GM12878	blood:	n/a	n/a
20	FAM48A	chr6:29142307-29142452	GM12878	blood:	n/a	n/a
21	FOS	chr6:29151509-29151656	MCF10A-Er-Src	breast:	n/a	chr6:29151598-29151607 chr6:29151598-29151606 chr6:29151597-29151606 chr6:29151599-29151606
22	FOXA1	chr6:29135846-29136124	HepG2	liver:	n/a	chr6:29136048-29136063
23	JUND	chr6:29151465-29151733	K562	blood:	n/a	chr6:29151598-29151607 chr6:29151598-29151606 chr6:29151597-29151606 chr6:29151599-29151606
24	MAFK	chr6:29150568-29150779	HepG2	liver:	n/a	chr6:29150734-29150749
25	MAFK	chr6:29156151-29156302	HepG2	liver:	n/a	n/a
26	MAX	chr6:29141818-29141877	Hela-S3	cervix:	n/a	n/a
27	MYC	chr6:29142007-29142015	MCF-7	breast:	n/a	n/a
28	MYC	chr6:29133416-29133644	MCF-7	breast:	n/a	chr6:29133609-29133619
29	MYC	chr6:29160223-29160236	H1-hESC	embryonic stem cell:	n/a	n/a
30	MYC	chr6:29142019-29142092	MCF-7	breast:	n/a	n/a
31	POLR2A	chr6:29133948-29133958	MCF-7	breast:	n/a	n/a
32	POLR2A	chr6:29137366-29137390	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr6:29133413-29133947	MCF-7	breast:	n/a	n/a
34	POLR2A	chr6:29163177-29163229	GM12878	blood:	n/a	n/a
35	POLR2A	chr6:29133400-29133768	MCF-7	breast:	n/a	n/a
36	POLR2A	chr6:29133544-29133643	A549	lung:	n/a	n/a
37	POLR2A	chr6:29155826-29156026	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr6:29150329-29150484	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr6:29149706-29149873	MCF10A-Er-Src	breast:	n/a	n/a
40	TAL1	chr6:29137248-29137393	K562	blood:	n/a	n/a
41	TAL1	chr6:29151484-29151621	K562	blood:	n/a	chr6:29151540-29151558

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29140126-29140176	GM19239	blood:	n/a
2	chr6:29140126-29140176	GM19239	blood:	n/a
3	chr6:29133085-29133135	MCF10A-Er-Src	breast:	n/a
4	chr6:29130035-29130085	GM12891	blood:	n/a
5	chr6:29141678-29141728	ECC-1	luminal epithelium:	n/a
6	chr6:29134247-29134297	SKMC	muscle:	n/a
7	chr6:29140622-29140672	SK-N-MC	brain:	n/a
8	chr6:29133972-29134022	NT2-D1	testis:	n/a
9	chr6:29130035-29130085	T-47D	breast:	n/a
10	chr6:29140126-29140176	HNPCEpiC	eye:	n/a
11	chr6:29133972-29134022	ProgFib	skin:	n/a
12	chr6:29140768-29140818	HRE	kidney:	n/a
13	chr6:29140126-29140176	Caco-2	colon:	n/a
14	chr6:29133972-29134022	MCF-7	breast:	n/a
15	chr6:29133505-29133555	HCT-116	colon:	n/a
16	chr6:29133961-29134011	MCF10A-Er-Src	breast:	n/a
17	chr6:29141346-29141396	NH-A	brain:	n/a
18	chr6:29141565-29141615	HRE	kidney:	n/a
19	chr6:29134247-29134297	AG09319	gingival:	n/a
20	chr6:29137756-29137806	IMR90	lung:	fetal
21	chr6:29133961-29134011	MCF-7	breast:	n/a
22	chr6:29133972-29134022	HEK293	kidney:	embryo
23	chr6:29133085-29133135	HNPCEpiC	eye:	n/a
24	chr6:29141346-29141396	HCPEpiC	choroid plexus:	n/a
25	chr6:29133505-29133555	LNCaP	prostate:	n/a
26	chr6:29133961-29134011	ovcar-3	ovarian:	n/a
27	chr6:29133085-29133135	HCT-116	colon:	n/a
28	chr6:29133505-29133555	AG04449	skin:	fetal
29	chr6:29141565-29141615	GM12878	blood:	n/a
30	chr6:29141565-29141615	SKMC	muscle:	n/a
31	chr6:29133085-29133135	HIPEpiC	eye:	n/a
32	chr6:29141929-29141979	NB4	blood:	n/a
33	chr6:29133972-29134022	SK-N-SH	brain:	n/a
34	chr6:29141929-29141979	HPAEpiC	pulmonary alveolar:	n/a
35	chr6:29141678-29141728	BE2_C	brain:	n/a
36	chr6:29133505-29133555	AoSMC	blood vessel:	n/a
37	chr6:29133972-29134022	Caco-2	colon:	n/a
38	chr6:29141678-29141728	BJ	skin:	n/a
39	chr6:29130035-29130085	IMR90	lung:	fetal
40	chr6:29133505-29133555	GM19239	blood:	n/a
41	chr6:29133972-29134022	Hepatocyte	liver:	n/a
42	chr6:29141678-29141728	HCPEpiC	choroid plexus:	n/a
43	chr6:29140622-29140672	Jurkat	blood:	n/a
44	chr6:29133085-29133135	LNCaP	prostate:	n/a
45	chr6:29133972-29134022	GM12878	blood:	n/a
46	chr6:29140126-29140176	SK-N-SH_RA	brain:	n/a
47	chr6:29134247-29134297	AG10803	skin:	n/a
48	chr6:29133972-29134022	Jurkat	blood:	n/a
49	chr6:29140622-29140672	HRCEpiC	kidney:	n/a
50	chr6:29141929-29141979	U87	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr6:29153930..29155451-chr6:29159790..29161704,2	K562	blood:
2	chr6:29153930..29155451-chr6:29159790..29161704,2	K562	blood:
3	chr6:29133273..29134852-chr6:29140182..29142699,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR2J2-2	chr6:29141081-29141412	NONHSAT108513
2	lnc-OR2J2-1	chr6:29163280-29163359	XLOC_005229

No data

Variant related genes	Relation type
OR2J4P	TF binding region
OR2J2	TF binding region
OR2J4P	CpG island
OR2J2	CpG island
ENSG00000204700	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3129145	chr6:29133301-29133302	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555741172	chr6:29133322-29133323	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs572434496	chr6:29133355-29133356	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs188861285	chr6:29133384-29133385	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs181272963	chr6:29133390-29133391	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs111963035	chr6:29133472-29133473	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs544031630	chr6:29133490-29133491	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs9501297	chr6:29133512-29133513	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs373210426	chr6:29133525-29133526	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs183866050	chr6:29133529-29133530	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs548765541	chr6:29133530-29133531	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs558940583	chr6:29133537-29133538	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs529638036	chr6:29133543-29133544	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs528051904	chr6:29133550-29133551	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs374306874	chr6:29133555-29133556	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs7382657	chr6:29133556-29133557	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs189208672	chr6:29133611-29133612	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs4947263	chr6:29133642-29133643	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs28796930	chr6:29133657-29133658	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs574570987	chr6:29133659-29133660	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs567307144	chr6:29133717-29133718	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs180687645	chr6:29133743-29133744	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs555549837	chr6:29133761-29133762	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs372362101	chr6:29133816-29133817	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs76653152	chr6:29133862-29133863	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs192476955	chr6:29133960-29133961	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs374700724	chr6:29133961-29133962	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs114070026	chr6:29133963-29133964	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs578261066	chr6:29133986-29133987	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs140476633	chr6:29133997-29133998	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs150429675	chr6:29134031-29134032	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs574120054	chr6:29134069-29134070	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs542731828	chr6:29134100-29134101	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs559052131	chr6:29134107-29134108	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs41317571	chr6:29134111-29134112	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs544645293	chr6:29134118-29134119	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs202003754	chr6:29134139-29134140	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs115105343	chr6:29134146-29134147	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs542640736	chr6:29134174-29134175	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs367564056	chr6:29134226-29134227	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs3129146	chr6:29134229-29134230	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs370231575	chr6:29134290-29134291	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs138256361	chr6:29134328-29134329	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs546756577	chr6:29134356-29134357	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs566217854	chr6:29134368-29134369	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs535116562	chr6:29134400-29134401	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs149618566	chr6:29134429-29134430	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs576482474	chr6:29134517-29134518	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs571630950	chr6:29134549-29134550	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs3116849	chr6:29134558-29134559	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:105)

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
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29154400-29154600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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