Variant report

Variant	nsv970373
Chromosome Location	chr6:29084969-29112402
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr6:29085310-29085494	Hela-S3	cervix:	n/a	n/a
2	CBX3	chr6:29110427-29110694	K562	blood:	n/a	n/a
3	CEBPB	chr6:29105551-29105846	IMR90	lung:	n/a	n/a
4	CEBPB	chr6:29105509-29105880	K562	blood:	n/a	n/a
5	CEBPB	chr6:29105537-29105852	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr6:29109974-29110510	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr6:29105506-29105875	HepG2	liver:	n/a	n/a
8	CEBPB	chr6:29105558-29105887	MCF-7	breast:	n/a	n/a
9	CEBPB	chr6:29105530-29105876	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr6:29105510-29105876	A549	lung:	n/a	n/a
11	CTCF	chr6:29091127-29091261	Pancreas_OC	pancreas:	n/a	n/a
12	CTCF	chr6:29111835-29111843	GM13977	blood:	n/a	n/a
13	CTCF	chr6:29091090-29091162	Lung_OC	lung:	n/a	n/a
14	CTCF	chr6:29091185-29091257	GM13977	blood:	n/a	n/a
15	CTCF	chr6:29090975-29091008	GM13976	blood:	n/a	n/a
16	E2F4	chr6:29104807-29105007	MCF10A-Er-Src	breast:	n/a	n/a
17	EP300	chr6:29110019-29110459	Hela-S3	cervix:	n/a	n/a
18	FOS	chr6:29099502-29099822	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr6:29099584-29099789	MCF10A-Er-Src	breast:	n/a	n/a
20	IRF1	chr6:29095498-29095509	K562	blood:	n/a	n/a
21	KAP1	chr6:29110048-29111257	K562	blood:	n/a	n/a
22	MYC	chr6:29098565-29098684	MCF-7	breast:	n/a	n/a
23	MYC	chr6:29098564-29098650	MCF-7	breast:	n/a	n/a
24	MYC	chr6:29096494-29096557	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr6:29091864-29091915	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr6:29089803-29090003	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr6:29098445-29098701	MCF-7	breast:	n/a	n/a
28	POLR2A	chr6:29103357-29103512	ProgFib	skin:	n/a	n/a
29	POLR2A	chr6:29091877-29091978	GM12878	blood:	n/a	n/a
30	POLR2A	chr6:29106797-29106849	MCF10A-Er-Src	breast:	n/a	n/a
31	RCOR1	chr6:29110086-29110442	Hela-S3	cervix:	n/a	n/a
32	RFX5	chr6:29110122-29110313	Hela-S3	cervix:	n/a	n/a
33	SETDB1	chr6:29110318-29111096	U2OS	brain:	n/a	n/a
34	STAT3	chr6:29099712-29099760	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr6:29095965-29096127	MCF10A-Er-Src	breast:	n/a	n/a
36	STAT3	chr6:29104349-29104353	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr6:29099261-29099433	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr6:29107098-29107313	MCF10A-Er-Src	breast:	n/a	n/a
39	TCF7L2	chr6:29106130-29106455	HepG2	liver:	n/a	n/a
40	TCF7L2	chr6:29110033-29110433	Hela-S3	cervix:	n/a	n/a
41	TEAD4	chr6:29110178-29110460	H1-hESC	embryonic stem cell:	n/a	n/a
42	ZNF143	chr6:29110535-29110735	H1-hESC	embryonic stem cell:	n/a	n/a
43	ZNF143	chr6:29110568-29110659	K562	blood:	n/a	n/a

No data

(count:6 , 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	chr6:29091978-29092123	NONHSAT108511
3	lnc-OR2B3-3	chr6:29104221-29104383	l_3154_chr6:29104220-29111736_testes
4	lnc-OR2J3-7	chr6:29096434-29096685	XLOC_005228
5	lnc-OR2J3-7	chr6:29091987-29092123	XLOC_005228
6	lnc-OR2J3-7	chr6:29096487-29096622	NONHSAT108511

No data

Variant related genes	Relation type
ENSG00000227206	TF binding region
OR2N1P	TF binding region

Extended variants
information (count: 167 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:167 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186091287	chr6:29089806-29089807	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs556495647	chr6:29089818-29089819	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs568665171	chr6:29089829-29089830	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs576346453	chr6:29089873-29089874	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs144391995	chr6:29089877-29089878	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs539732915	chr6:29089897-29089898	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs190949086	chr6:29089929-29089930	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs574961145	chr6:29089938-29089939	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs540639973	chr6:29089956-29089957	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs560321869	chr6:29089993-29089994	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs549775792	chr6:29091093-29091094	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs569985000	chr6:29091137-29091138	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs112832097	chr6:29091185-29091186	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs529239838	chr6:29091229-29091230	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs549280778	chr6:29091239-29091240	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs565785810	chr6:29091250-29091251	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs565917920	chr6:29091865-29091866	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs528293356	chr6:29091924-29091925	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs41286279	chr6:29091990-29091991	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs571336291	chr6:29092055-29092056	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs539573294	chr6:29092079-29092080	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs551407178	chr6:29096491-29096492	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs560096216	chr6:29096508-29096509	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs568062359	chr6:29096614-29096615	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs544702113	chr6:29096656-29096657	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs9283885	chr6:29097247-29097248	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs577091260	chr6:29097267-29097268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546075975	chr6:29097271-29097272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184782081	chr6:29097303-29097304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73397877	chr6:29097332-29097333	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs374791295	chr6:29097348-29097349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs117378275	chr6:29097360-29097361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114418108	chr6:29097388-29097389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs28986282	chr6:29097397-29097398	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs371958992	chr6:29097463-29097464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549773335	chr6:29097465-29097466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190027192	chr6:29097475-29097476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570440606	chr6:29097507-29097508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574011973	chr6:29097513-29097514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544473456	chr6:29097528-29097529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150508471	chr6:29097532-29097533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555888133	chr6:29097533-29097534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535588380	chr6:29097601-29097602	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs577522863	chr6:29097610-29097611	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs544814423	chr6:29097613-29097614	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs181235949	chr6:29097630-29097631	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs138690092	chr6:29097680-29097681	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs533958717	chr6:29097707-29097708	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs553775550	chr6:29097738-29097739	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs9295793	chr6:29097769-29097770	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:104)

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

Chromatin state (count:6 , 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

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