Variant report

Variant	nsv823468
Chromosome Location	chr6:29093836-29156419
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:114)
CpG islands
(count:1100)
Chromatin interactive
region (count:5)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:114 , 50 per page) page: 1 2 3

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	chr6:29114085-29114404	HepG2	liver:	n/a	chr6:29114234-29114245
3	CEBPB	chr6:29114975-29115701	HepG2	liver:	n/a	chr6:29115098-29115109
4	CEBPB	chr6:29105510-29105876	A549	lung:	n/a	n/a
5	CEBPB	chr6:29114019-29114422	Hela-S3	cervix:	n/a	chr6:29114234-29114245
6	CEBPB	chr6:29114942-29115242	A549	lung:	n/a	chr6:29115098-29115109
7	CEBPB	chr6:29114947-29115751	IMR90	lung:	n/a	chr6:29115098-29115109
8	CEBPB	chr6:29109974-29110510	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr6:29105537-29105852	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr6:29114877-29115699	Hela-S3	cervix:	n/a	chr6:29115098-29115109
11	CEBPB	chr6:29105509-29105880	K562	blood:	n/a	n/a
12	CEBPB	chr6:29105551-29105846	IMR90	lung:	n/a	n/a
13	CEBPB	chr6:29105530-29105876	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr6:29114969-29115710	K562	blood:	n/a	chr6:29115098-29115109
15	CEBPB	chr6:29105558-29105887	MCF-7	breast:	n/a	n/a
16	CEBPB	chr6:29115465-29115665	A549	lung:	n/a	n/a
17	CEBPB	chr6:29105506-29105875	HepG2	liver:	n/a	n/a
18	CTCF	chr6:29113940-29114090	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr6:29149656-29149684	HepG2	liver:	n/a	n/a
20	CTCF	chr6:29141649-29141716	LNCaP	prostate:	n/a	n/a
21	CTCF	chr6:29149732-29149752	K562	blood:	n/a	n/a
22	CTCF	chr6:29133537-29133577	MCF-7	breast:	n/a	n/a
23	CTCF	chr6:29113985-29114155	Gliobla	brain:	n/a	n/a
24	CTCF	chr6:29149659-29149799	MCF-7	breast:	n/a	n/a
25	CTCF	chr6:29152898-29152982	GM13976	blood:	n/a	n/a
26	CTCF	chr6:29149663-29149665	GM19240	blood:	n/a	n/a
27	CTCF	chr6:29111835-29111843	GM13977	blood:	n/a	n/a
28	CTCF	chr6:29113980-29114130	HCT-116	colon:	n/a	n/a
29	CTCF	chr6:29153645-29153736	Lung_OC	lung:	n/a	n/a
30	CTCF	chr6:29114006-29114153	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr6:29120590-29120655	GM10248	blood:	n/a	n/a
32	CTCF	chr6:29149658-29149777	MCF-7	breast:	n/a	n/a
33	CTCF	chr6:29149659-29149802	MCF-7	breast:	n/a	n/a
34	CTCF	chr6:29149648-29149802	MCF-7	breast:	n/a	n/a
35	CTCF	chr6:29133508-29133553	MCF-7	breast:	n/a	n/a
36	CTCF	chr6:29141590-29141622	GM10248	blood:	n/a	n/a
37	CTCF	chr6:29149660-29149794	MCF-7	breast:	n/a	n/a
38	CTCF	chr6:29114000-29114150	HEK293	kidney:	n/a	n/a
39	CTCF	chr6:29127652-29127709	GM20000	blood:	n/a	n/a
40	CTCF	chr6:29149666-29149763	GM19240	blood:	n/a	n/a
41	E2F4	chr6:29104807-29105007	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F4	chr6:29137992-29138197	MCF10A-Er-Src	breast:	n/a	n/a
43	EP300	chr6:29110019-29110459	Hela-S3	cervix:	n/a	n/a
44	EP300	chr6:29140245-29140328	GM12878	blood:	n/a	n/a
45	EP300	chr6:29114830-29115213	Hela-S3	cervix:	n/a	n/a
46	FAM48A	chr6:29142307-29142452	GM12878	blood:	n/a	n/a
47	FOS	chr6:29126967-29127269	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr6:29127058-29127167	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr6:29114013-29114213	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr6:29151509-29151656	MCF10A-Er-Src	breast:	n/a	chr6:29151598-29151607 chr6:29151598-29151606 chr6:29151597-29151606 chr6:29151599-29151606

(count:1100 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29140768-29140818	HAEpiC	amniotic membrane:	n/a
2	chr6:29141678-29141728	HCT-116	colon:	n/a
3	chr6:29140768-29140818	HAEpiC	amniotic membrane:	n/a
4	chr6:29141678-29141728	HCT-116	colon:	n/a
5	chr6:29130035-29130085	H1-hESC	embryonic stem cell:	embryo
6	chr6:29127979-29128029	NHBE	bronchial:	n/a
7	chr6:29141929-29141979	HepG2	liver:	n/a
8	chr6:29141929-29141979	HNPCEpiC	eye:	n/a
9	chr6:29140126-29140176	GM19239	blood:	n/a
10	chr6:29130035-29130085	HUVEC	blood vessel:	n/a
11	chr6:29133085-29133135	ECC-1	luminal epithelium:	n/a
12	chr6:29141346-29141396	HRE	kidney:	n/a
13	chr6:29140768-29140818	HEEpiC	esophagus:	n/a
14	chr6:29133961-29134011	GM19239	blood:	n/a
15	chr6:29133505-29133555	GM06990	blood:	n/a
16	chr6:29130035-29130085	HEK293	kidney:	embryo
17	chr6:29140126-29140176	SKMC	muscle:	n/a
18	chr6:29140622-29140672	BJ	skin:	n/a
19	chr6:29133505-29133555	HPAEpiC	pulmonary alveolar:	n/a
20	chr6:29127982-29128032	HMEC	breast:	n/a
21	chr6:29137756-29137806	K562	blood:	n/a
22	chr6:29140622-29140672	PrEC	prostate:	n/a
23	chr6:29141929-29141979	ProgFib	skin:	n/a
24	chr6:29127979-29128029	NT2-D1	testis:	n/a
25	chr6:29141929-29141979	Jurkat	blood:	n/a
26	chr6:29127982-29128032	HCM	heart:	n/a
27	chr6:29133972-29134022	Hepatocyte	liver:	n/a
28	chr6:29140622-29140672	ECC-1	luminal epithelium:	n/a
29	chr6:29140622-29140672	HIPEpiC	eye:	n/a
30	chr6:29127871-29127921	HEK293	kidney:	embryo
31	chr6:29127979-29128029	SKMC	muscle:	n/a
32	chr6:29141346-29141396	SKMC	muscle:	n/a
33	chr6:29134247-29134297	LNCaP	prostate:	n/a
34	chr6:29140126-29140176	HPAEpiC	pulmonary alveolar:	n/a
35	chr6:29141346-29141396	HMEC	breast:	n/a
36	chr6:29133505-29133555	SK-N-MC	brain:	n/a
37	chr6:29137756-29137806	Hela-S3	cervix:	n/a
38	chr6:29141565-29141615	U87	brain:	n/a
39	chr6:29134247-29134297	GM12892	blood:	n/a
40	chr6:29141678-29141728	H1-hESC	embryonic stem cell:	embryo
41	chr6:29141929-29141979	AG10803	skin:	n/a
42	chr6:29141346-29141396	MCF10A-Er-Src	breast:	n/a
43	chr6:29134247-29134297	HepG2	liver:	n/a
44	chr6:29141678-29141728	K562	blood:	n/a
45	chr6:29133085-29133135	CMK	blood:	n/a
46	chr6:29130035-29130085	HL-60	blood:	n/a
47	chr6:29125104-29125154	A549	lung:	n/a
48	chr6:29125104-29125154	HEK293	kidney:	embryo
49	chr6:29130035-29130085	K562	blood:	n/a
50	chr6:29141346-29141396	RPTEC	kidney:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:29116682..29119190-chr6:29125085..29127105,2	K562	blood:
2	chr6:29153930..29155451-chr6:29159790..29161704,2	K562	blood:
3	chr6:29116682..29119190-chr6:29125085..29127105,2	K562	blood:
4	chr6:29133273..29134852-chr6:29140182..29142699,2	K562	blood:
5	chr6:29016217..29018909-chr6:29120286..29121903,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR2B3-3	chr6:29111581-29111736	l_3154_chr6:29104220-29111736_testes
2	lnc-OR2J3-7	chr6:29096434-29096685	XLOC_005228
3	lnc-OR2J3-7	chr6:29096487-29096622	NONHSAT108511
4	lnc-OR2J2-2	chr6:29141081-29141412	NONHSAT108513
5	lnc-OR2B3-3	chr6:29104221-29104383	l_3154_chr6:29104220-29111736_testes

No data

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

Extended variants
information (count: 288 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:288 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551407178	chr6:29096491-29096492	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs560096216	chr6:29096508-29096509	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs568062359	chr6:29096614-29096615	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs544702113	chr6:29096656-29096657	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs9283885	chr6:29097247-29097248	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs577091260	chr6:29097267-29097268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546075975	chr6:29097271-29097272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184782081	chr6:29097303-29097304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73397877	chr6:29097332-29097333	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs374791295	chr6:29097348-29097349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117378275	chr6:29097360-29097361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114418108	chr6:29097388-29097389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs28986282	chr6:29097397-29097398	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs371958992	chr6:29097463-29097464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549773335	chr6:29097465-29097466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190027192	chr6:29097475-29097476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570440606	chr6:29097507-29097508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574011973	chr6:29097513-29097514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544473456	chr6:29097528-29097529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150508471	chr6:29097532-29097533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555888133	chr6:29097533-29097534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535588380	chr6:29097601-29097602	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs577522863	chr6:29097610-29097611	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs544814423	chr6:29097613-29097614	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs181235949	chr6:29097630-29097631	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs138690092	chr6:29097680-29097681	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs533958717	chr6:29097707-29097708	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs553775550	chr6:29097738-29097739	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs9295793	chr6:29097769-29097770	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs527509960	chr6:29097801-29097802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546137853	chr6:29097835-29097836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556394331	chr6:29097840-29097841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576572403	chr6:29097862-29097863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542375983	chr6:29097885-29097886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561651430	chr6:29097892-29097893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561893346	chr6:29097924-29097925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs3116844	chr6:29097936-29097937	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs540753923	chr6:29098018-29098019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564111136	chr6:29098034-29098035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532954018	chr6:29098084-29098085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184611052	chr6:29098133-29098134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561029795	chr6:29098265-29098266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113939260	chr6:29098309-29098310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550061185	chr6:29098320-29098321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529091958	chr6:29098350-29098351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs3130775	chr6:29098369-29098370	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs188187323	chr6:29098385-29098386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534346862	chr6:29098477-29098478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs3130776	chr6:29098500-29098501	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs570516807	chr6:29098509-29098510	Enhancers	n/a	n/a	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29097200-29098800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:29097600-29097800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
3	chr6:29098400-29099000	Enhancers	Fetal Brain Male	brain
4	chr6:29099000-29099200	Weak transcription	Fetal Brain Male	brain
5	chr6:29099600-29099800	Enhancers	Fetal Brain Male	brain
6	chr6:29110000-29112000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:29113800-29115400	Enhancers	Hela-S3	cervix
8	chr6:29114200-29114400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:29114400-29114800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:29115000-29115200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:29154400-29154600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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