Variant report

Variant	nsv517415
Chromosome Location	chr6:29099579-29149561
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:88)
CpG islands
(count:1101)
Chromatin interactive
region (count:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:88 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr6:29110427-29110694	K562	blood:	n/a	n/a
2	CEBPB	chr6:29115465-29115665	A549	lung:	n/a	n/a
3	CEBPB	chr6:29114942-29115242	A549	lung:	n/a	chr6:29115098-29115109
4	CEBPB	chr6:29105509-29105880	K562	blood:	n/a	n/a
5	CEBPB	chr6:29114019-29114422	Hela-S3	cervix:	n/a	chr6:29114234-29114245
6	CEBPB	chr6:29109974-29110510	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr6:29105551-29105846	IMR90	lung:	n/a	n/a
8	CEBPB	chr6:29105537-29105852	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr6:29105510-29105876	A549	lung:	n/a	n/a
10	CEBPB	chr6:29105558-29105887	MCF-7	breast:	n/a	n/a
11	CEBPB	chr6:29114969-29115710	K562	blood:	n/a	chr6:29115098-29115109
12	CEBPB	chr6:29114085-29114404	HepG2	liver:	n/a	chr6:29114234-29114245
13	CEBPB	chr6:29105530-29105876	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr6:29105506-29105875	HepG2	liver:	n/a	n/a
15	CEBPB	chr6:29114975-29115701	HepG2	liver:	n/a	chr6:29115098-29115109
16	CEBPB	chr6:29114947-29115751	IMR90	lung:	n/a	chr6:29115098-29115109
17	CEBPB	chr6:29114877-29115699	Hela-S3	cervix:	n/a	chr6:29115098-29115109
18	CTCF	chr6:29113940-29114090	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr6:29120590-29120655	GM10248	blood:	n/a	n/a
20	CTCF	chr6:29114000-29114150	HEK293	kidney:	n/a	n/a
21	CTCF	chr6:29141649-29141716	LNCaP	prostate:	n/a	n/a
22	CTCF	chr6:29113985-29114155	Gliobla	brain:	n/a	n/a
23	CTCF	chr6:29113980-29114130	HCT-116	colon:	n/a	n/a
24	CTCF	chr6:29141590-29141622	GM10248	blood:	n/a	n/a
25	CTCF	chr6:29133508-29133553	MCF-7	breast:	n/a	n/a
26	CTCF	chr6:29133537-29133577	MCF-7	breast:	n/a	n/a
27	CTCF	chr6:29127652-29127709	GM20000	blood:	n/a	n/a
28	CTCF	chr6:29114006-29114153	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr6:29111835-29111843	GM13977	blood:	n/a	n/a
30	E2F4	chr6:29137992-29138197	MCF10A-Er-Src	breast:	n/a	n/a
31	E2F4	chr6:29104807-29105007	MCF10A-Er-Src	breast:	n/a	n/a
32	EP300	chr6:29114830-29115213	Hela-S3	cervix:	n/a	n/a
33	EP300	chr6:29110019-29110459	Hela-S3	cervix:	n/a	n/a
34	EP300	chr6:29140245-29140328	GM12878	blood:	n/a	n/a
35	FAM48A	chr6:29142307-29142452	GM12878	blood:	n/a	n/a
36	FOS	chr6:29127099-29127118	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr6:29099502-29099822	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr6:29127058-29127167	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr6:29113990-29114306	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr6:29114148-29114211	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr6:29126967-29127269	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr6:29099584-29099789	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr6:29114013-29114213	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr6:29113982-29114257	MCF10A-Er-Src	breast:	n/a	n/a
45	FOXA1	chr6:29135846-29136124	HepG2	liver:	n/a	chr6:29136048-29136063
46	JUND	chr6:29114080-29114302	H1-hESC	embryonic stem cell:	n/a	chr6:29114139-29114150
47	JUND	chr6:29113979-29114307	Hela-S3	cervix:	n/a	chr6:29114139-29114150
48	JUND	chr6:29114013-29114308	HepG2	liver:	n/a	chr6:29114139-29114150
49	KAP1	chr6:29110048-29111257	K562	blood:	n/a	n/a
50	MAX	chr6:29141818-29141877	Hela-S3	cervix:	n/a	n/a

(count:1101 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29133972-29134022	HCPEpiC	choroid plexus:	n/a
2	chr6:29141565-29141615	HEK293	kidney:	embryo
3	chr6:29140126-29140176	AG10803	skin:	n/a
4	chr6:29133972-29134022	HCPEpiC	choroid plexus:	n/a
5	chr6:29141565-29141615	HEK293	kidney:	embryo
6	chr6:29140126-29140176	AG10803	skin:	n/a
7	chr6:29133972-29134022	NT2-D1	testis:	n/a
8	chr6:29141565-29141615	SK-N-SH_RA	brain:	n/a
9	chr6:29140126-29140176	Hepatocyte	liver:	n/a
10	chr6:29133505-29133555	GM12878	blood:	n/a
11	chr6:29133961-29134011	NH-A	brain:	n/a
12	chr6:29141565-29141615	HCM	heart:	n/a
13	chr6:29133972-29134022	IMR90	lung:	fetal
14	chr6:29133085-29133135	SK-N-SH_RA	brain:	n/a
15	chr6:29141678-29141728	AG10803	skin:	n/a
16	chr6:29125104-29125154	SK-N-MC	brain:	n/a
17	chr6:29137756-29137806	ProgFib	skin:	n/a
18	chr6:29134247-29134297	SAEC	small airway:	n/a
19	chr6:29130035-29130085	HAEpiC	amniotic membrane:	n/a
20	chr6:29140768-29140818	U87	brain:	n/a
21	chr6:29141565-29141615	SK-N-SH	brain:	n/a
22	chr6:29137756-29137806	HCF	heart:	n/a
23	chr6:29125104-29125154	MCF-7	breast:	n/a
24	chr6:29133961-29134011	SK-N-SH_RA	brain:	n/a
25	chr6:29133972-29134022	HEK293	kidney:	embryo
26	chr6:29141678-29141728	PFSK-1	brain:	n/a
27	chr6:29127871-29127921	A549	lung:	n/a
28	chr6:29134247-29134297	AoSMC	blood vessel:	n/a
29	chr6:29133085-29133135	AoSMC	blood vessel:	n/a
30	chr6:29140768-29140818	HCT-116	colon:	n/a
31	chr6:29127871-29127921	HPAEpiC	pulmonary alveolar:	n/a
32	chr6:29127979-29128029	AG10803	skin:	n/a
33	chr6:29140768-29140818	BE2_C	brain:	n/a
34	chr6:29141678-29141728	NHDF-neo	bronchial:	n/a
35	chr6:29133961-29134011	HL-60	blood:	n/a
36	chr6:29141929-29141979	MCF-7	breast:	n/a
37	chr6:29141346-29141396	NH-A	brain:	n/a
38	chr6:29133961-29134011	AG04450	lung:	fetal
39	chr6:29141565-29141615	PANC-1	pancreas:	n/a
40	chr6:29141678-29141728	NHBE	bronchial:	n/a
41	chr6:29127979-29128029	SAEC	small airway:	n/a
42	chr6:29127871-29127921	MCF-7	breast:	n/a
43	chr6:29140126-29140176	IMR90	lung:	fetal
44	chr6:29141678-29141728	RPTEC	kidney:	n/a
45	chr6:29141346-29141396	SKMC	muscle:	n/a
46	chr6:29141929-29141979	RPTEC	kidney:	n/a
47	chr6:29140126-29140176	GM12892	blood:	n/a
48	chr6:29125104-29125154	GM12891	blood:	n/a
49	chr6:29141678-29141728	NB4	blood:	n/a
50	chr6:29133972-29134022	PrEC	prostate:	n/a

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

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

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR2B3-3	chr6:29104221-29104383	l_3154_chr6:29104220-29111736_testes
2	lnc-OR2B3-3	chr6:29111581-29111736	l_3154_chr6:29104220-29111736_testes
3	lnc-OR2J2-2	chr6:29141081-29141412	NONHSAT108513

No data

Variant related genes	Relation type
OR2J4P	TF binding region
OR2J2	TF binding region
OR2N1P	TF binding region
OR2J4P	CpG island
OR2J2	CpG island
OR2N1P	CpG island
ENSG00000204700	chromatin interactions

Extended variants
information (count: 215 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:215 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148690382	chr6:29099634-29099635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544967230	chr6:29099667-29099668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553618850	chr6:29099670-29099671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181617767	chr6:29099687-29099688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577782249	chr6:29099691-29099692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201152247	chr6:29099705-29099706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543519942	chr6:29099717-29099718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186752690	chr6:29099739-29099740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556948441	chr6:29099770-29099771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561073493	chr6:29099800-29099801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534151295	chr6:29104241-29104242	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs368743487	chr6:29104331-29104332	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs115787930	chr6:29104356-29104357	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs188303874	chr6:29104372-29104373	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs533183346	chr6:29106804-29106805	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs185335825	chr6:29106837-29106838	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs572088333	chr6:29107117-29107118	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs370752985	chr6:29107133-29107134	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs114685781	chr6:29107198-29107199	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs112417466	chr6:29107238-29107239	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs185042881	chr6:29107240-29107241	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs533299278	chr6:29107265-29107266	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs192428651	chr6:29107309-29107310	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs183952339	chr6:29110024-29110025	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs549707349	chr6:29110030-29110031	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs73397891	chr6:29110143-29110144	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs528716127	chr6:29110280-29110281	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs556429278	chr6:29110291-29110292	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs551713771	chr6:29110312-29110313	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs571795021	chr6:29110411-29110412	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs3130717	chr6:29110505-29110506	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs570164474	chr6:29110510-29110511	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs370213164	chr6:29110511-29110512	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs576350222	chr6:29110521-29110522	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs567162442	chr6:29110534-29110535	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs143080048	chr6:29110564-29110565	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs3116845	chr6:29110584-29110585	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs115550504	chr6:29110643-29110644	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs376597994	chr6:29110644-29110645	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs188228126	chr6:29110738-29110739	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs558510288	chr6:29110739-29110740	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs7745785	chr6:29110778-29110779	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs7763908	chr6:29110838-29110839	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs557384684	chr6:29110861-29110862	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs376939957	chr6:29110995-29110996	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs574095736	chr6:29110998-29110999	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs115160513	chr6:29111018-29111019	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs559760394	chr6:29111024-29111025	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs528826869	chr6:29111111-29111112	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs559960756	chr6:29111147-29111148	ZNF genes & repeats	TF binding 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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29099600-29099800	Enhancers	Fetal Brain Male	brain
2	chr6:29110000-29112000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:29113800-29115400	Enhancers	Hela-S3	cervix
4	chr6:29114200-29114400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:29114400-29114800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:29115000-29115200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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