Variant report

Variant	nsv965634
Chromosome Location	chr6:29231406-29236832
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:29236627-29236855	A549	lung:	n/a	chr6:29236731-29236742
2	CEBPB	chr6:29236566-29236901	HepG2	liver:	n/a	chr6:29236731-29236742
3	CEBPB	chr6:29236601-29236883	IMR90	lung:	n/a	chr6:29236731-29236742
4	GATA1	chr6:29230694-29231456	K562	blood:	n/a	n/a
5	JUND	chr6:29236672-29236956	HepG2	liver:	n/a	n/a
6	KAP1	chr6:29234850-29235148	K562	blood:	n/a	n/a
7	STAT3	chr6:29234390-29234717	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr6:29233111-29233480	MCF10A-Er-Src	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29232651-29232701	HCPEpiC	choroid plexus:	n/a
2	chr6:29232651-29232701	AG09309	skin:	n/a
3	chr6:29232651-29232701	SKMC	muscle:	n/a
4	chr6:29232651-29232701	HEK293	kidney:	embryo
5	chr6:29232651-29232701	BE2_C	brain:	n/a
6	chr6:29232651-29232701	HRCEpiC	kidney:	n/a
7	chr6:29232221-29232271	HIPEpiC	eye:	n/a
8	chr6:29232221-29232271	HMEC	breast:	n/a
9	chr6:29232651-29232701	MCF-7	breast:	n/a
10	chr6:29232221-29232271	T-47D	breast:	n/a
11	chr6:29232651-29232701	PANC-1	pancreas:	n/a
12	chr6:29232221-29232271	Jurkat	blood:	n/a
13	chr6:29232651-29232701	AoSMC	blood vessel:	n/a
14	chr6:29232221-29232271	GM12891	blood:	n/a
15	chr6:29232221-29232271	SK-N-SH	brain:	n/a
16	chr6:29232651-29232701	HUVEC	blood vessel:	n/a
17	chr6:29232221-29232271	IMR90	lung:	fetal
18	chr6:29232221-29232271	HRE	kidney:	n/a
19	chr6:29232221-29232271	NHBE	bronchial:	n/a
20	chr6:29232221-29232271	GM12878	blood:	n/a
21	chr6:29232651-29232701	NHDF-neo	bronchial:	n/a
22	chr6:29232221-29232271	HNPCEpiC	eye:	n/a
23	chr6:29232651-29232701	HCM	heart:	n/a
24	chr6:29232221-29232271	ProgFib	skin:	n/a
25	chr6:29232221-29232271	Hepatocyte	liver:	n/a
26	chr6:29232221-29232271	HRCEpiC	kidney:	n/a
27	chr6:29232221-29232271	MCF10A-Er-Src	breast:	n/a
28	chr6:29232651-29232701	Hepatocyte	liver:	n/a
29	chr6:29232221-29232271	SAEC	small airway:	n/a
30	chr6:29232651-29232701	BJ	skin:	n/a
31	chr6:29232221-29232271	HRPEpiC	eye:	n/a
32	chr6:29232221-29232271	AG10803	skin:	n/a
33	chr6:29232221-29232271	HPAEpiC	pulmonary alveolar:	n/a
34	chr6:29232221-29232271	HepG2	liver:	n/a
35	chr6:29232651-29232701	GM12891	blood:	n/a
36	chr6:29232651-29232701	T-47D	breast:	n/a
37	chr6:29232651-29232701	HMEC	breast:	n/a
38	chr6:29232651-29232701	AG10803	skin:	n/a
39	chr6:29232221-29232271	AG09309	skin:	n/a
40	chr6:29232651-29232701	HIPEpiC	eye:	n/a
41	chr6:29232651-29232701	K562	blood:	n/a
42	chr6:29232651-29232701	HRE	kidney:	n/a
43	chr6:29232221-29232271	ovcar-3	ovarian:	n/a
44	chr6:29232651-29232701	HCT-116	colon:	n/a
45	chr6:29232651-29232701	GM19239	blood:	n/a
46	chr6:29232651-29232701	A549	lung:	n/a
47	chr6:29232221-29232271	HCT-116	colon:	n/a
48	chr6:29232221-29232271	AG04450	lung:	fetal
49	chr6:29232221-29232271	HUVEC	blood vessel:	n/a
50	chr6:29232651-29232701	Hela-S3	cervix:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:29232193..29235031-chr6:29499075..29500659,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR14J1-2	chr6:29234708-29234862	ENSG00000232505
2	lnc-OR14J1-2	chr6:29231609-29231838	ENSG00000232505

No data

Variant related genes	Relation type
OR2U1P	TF binding region
OR2U1P	CpG island

Extended variants
information (count: 62 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200145561	chr6:29231456-29231457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149070172	chr6:29231492-29231493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143110918	chr6:29231496-29231497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75870310	chr6:29231499-29231500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372086663	chr6:29231514-29231515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531928330	chr6:29231544-29231545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376061083	chr6:29231545-29231546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369399120	chr6:29231546-29231547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372508537	chr6:29231553-29231554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568346992	chr6:29231575-29231576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375697258	chr6:29231579-29231580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369711816	chr6:29231633-29231634	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs181015544	chr6:29231637-29231638	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs184990361	chr6:29231668-29231669	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs376683464	chr6:29231735-29231736	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs570527606	chr6:29231758-29231759	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs371119658	chr6:29231759-29231760	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs200934929	chr6:29231769-29231770	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs377173525	chr6:29231791-29231792	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs576089022	chr6:29231824-29231825	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs535783738	chr6:29231825-29231826	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs202180503	chr6:29231826-29231827	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs77154096	chr6:29231831-29231832	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs114165450	chr6:29232225-29232226	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs548142285	chr6:29232239-29232240	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs115778949	chr6:29232651-29232652	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs561555062	chr6:29232688-29232689	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs113110284	chr6:29233132-29233133	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs142760705	chr6:29233136-29233137	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs190168371	chr6:29233215-29233216	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs564738881	chr6:29233267-29233268	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs182426513	chr6:29233339-29233340	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs146073376	chr6:29233358-29233359	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs569772021	chr6:29233359-29233360	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs559799759	chr6:29233475-29233476	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs564648144	chr6:29234456-29234457	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs533628246	chr6:29234499-29234500	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs10484545	chr6:29234510-29234511	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs563864110	chr6:29234517-29234518	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs529045162	chr6:29234576-29234577	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs540864681	chr6:29234581-29234582	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs144770144	chr6:29234723-29234724	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs565703542	chr6:29234786-29234787	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs184319047	chr6:29234821-29234822	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs6923526	chr6:29234827-29234828	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs571452171	chr6:29234831-29234832	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs536904945	chr6:29234956-29234957	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs545092331	chr6:29234965-29234966	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs567104096	chr6:29234983-29234984	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs535589394	chr6:29235026-29235027	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29230800-29231600	Enhancers	K562	blood

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