Variant report

Variant	nsv969417
Chromosome Location	chr6:71317998-71322077
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:71321100-71321197	LNCaP	prostate:	n/a	n/a
2	POLR2A	chr6:71318985-71319081	A549	lung:	n/a	n/a
3	POLR2A	chr6:71318880-71319219	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr6:71318943-71319090	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr6:71318958-71319074	A549	lung:	n/a	n/a
6	POLR2A	chr6:71318966-71319098	A549	lung:	n/a	n/a
7	POLR2A	chr6:71318990-71319082	A549	lung:	n/a	n/a
8	POLR2A	chr6:71320791-71320841	ProgFib	skin:	n/a	n/a
9	SPI1	chr6:71319972-71320139	GM12891	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:71319002-71319052	AG04450	lung:	fetal
2	chr6:71319075-71319125	BJ	skin:	n/a
3	chr6:71319075-71319125	AG09309	skin:	n/a
4	chr6:71318924-71318974	GM12891	blood:	n/a
5	chr6:71318924-71318974	Caco-2	colon:	n/a
6	chr6:71318924-71318974	HUVEC	blood vessel:	n/a
7	chr6:71319075-71319125	NT2-D1	testis:	n/a
8	chr6:71319002-71319052	SK-N-SH	brain:	n/a
9	chr6:71319075-71319125	ECC-1	luminal epithelium:	n/a
10	chr6:71319075-71319125	HCPEpiC	choroid plexus:	n/a
11	chr6:71318924-71318974	HCPEpiC	choroid plexus:	n/a
12	chr6:71319075-71319125	HRCEpiC	kidney:	n/a
13	chr6:71319002-71319052	HPAEpiC	pulmonary alveolar:	n/a
14	chr6:71319075-71319125	T-47D	breast:	n/a
15	chr6:71318924-71318974	GM12878	blood:	n/a
16	chr6:71319002-71319052	GM06990	blood:	n/a
17	chr6:71318924-71318974	IMR90	lung:	fetal
18	chr6:71318924-71318974	AoSMC	blood vessel:	n/a
19	chr6:71318924-71318974	T-47D	breast:	n/a
20	chr6:71319002-71319052	HAEpiC	amniotic membrane:	n/a
21	chr6:71318924-71318974	NT2-D1	testis:	n/a
22	chr6:71319075-71319125	CMK	blood:	n/a
23	chr6:71318924-71318974	NB4	blood:	n/a
24	chr6:71318924-71318974	K562	blood:	n/a
25	chr6:71318924-71318974	CMK	blood:	n/a
26	chr6:71318924-71318974	SAEC	small airway:	n/a
27	chr6:71319075-71319125	SAEC	small airway:	n/a
28	chr6:71319075-71319125	HPAEpiC	pulmonary alveolar:	n/a
29	chr6:71319002-71319052	NT2-D1	testis:	n/a
30	chr6:71319002-71319052	GM12892	blood:	n/a
31	chr6:71319002-71319052	Jurkat	blood:	n/a
32	chr6:71318924-71318974	AG10803	skin:	n/a
33	chr6:71318924-71318974	MCF-7	breast:	n/a
34	chr6:71318924-71318974	A549	lung:	n/a
35	chr6:71319075-71319125	IMR90	lung:	fetal
36	chr6:71318924-71318974	SK-N-SH_RA	brain:	n/a
37	chr6:71319075-71319125	PANC-1	pancreas:	n/a
38	chr6:71319075-71319125	LNCaP	prostate:	n/a
39	chr6:71318924-71318974	LNCaP	prostate:	n/a
40	chr6:71318924-71318974	HEEpiC	esophagus:	n/a
41	chr6:71319002-71319052	H1-hESC	embryonic stem cell:	embryo
42	chr6:71319075-71319125	HEK293	kidney:	embryo
43	chr6:71319002-71319052	AG10803	skin:	n/a
44	chr6:71318924-71318974	GM06990	blood:	n/a
45	chr6:71319002-71319052	NHDF-neo	bronchial:	n/a
46	chr6:71319075-71319125	HCM	heart:	n/a
47	chr6:71319002-71319052	AG04449	skin:	fetal
48	chr6:71319075-71319125	NH-A	brain:	n/a
49	chr6:71318924-71318974	HCT-116	colon:	n/a
50	chr6:71319002-71319052	SK-N-MC	brain:	n/a

No data

Variant related genes	Relation type
ENSG00000232389	TF binding region
ENSG00000232389	CpG island

Extended variants
information (count: 71 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532672625	chr6:71318038-71318039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562842217	chr6:71318040-71318041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552608470	chr6:71318051-71318052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186760142	chr6:71318057-71318058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190607289	chr6:71318060-71318061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531633430	chr6:71318063-71318064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2691511	chr6:71318071-71318072	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs555077221	chr6:71318103-71318104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs180919096	chr6:71318107-71318108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567003291	chr6:71318111-71318112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556717123	chr6:71318113-71318114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576600766	chr6:71318137-71318138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545588216	chr6:71318143-71318144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552983912	chr6:71318144-71318145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186334331	chr6:71318205-71318206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190940732	chr6:71318225-71318226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561599705	chr6:71318249-71318250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111364269	chr6:71318267-71318268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530393747	chr6:71318386-71318387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544098939	chr6:71318452-71318453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563890467	chr6:71318468-71318469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116092661	chr6:71318476-71318477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552396236	chr6:71318482-71318483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566164442	chr6:71318483-71318484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111736257	chr6:71318507-71318508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568042919	chr6:71318522-71318523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536971961	chr6:71318539-71318540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558635747	chr6:71318548-71318549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146335022	chr6:71318631-71318632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544942236	chr6:71318659-71318660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539617061	chr6:71318666-71318667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552833352	chr6:71318697-71318698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572876142	chr6:71318707-71318708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370139871	chr6:71318722-71318723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535129949	chr6:71318726-71318727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555422692	chr6:71318776-71318777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575274595	chr6:71318859-71318860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9446277	chr6:71318869-71318870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs201667894	chr6:71318876-71318877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563927126	chr6:71318913-71318914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183515569	chr6:71318924-71318925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9455191	chr6:71318942-71318943	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs148766289	chr6:71318953-71318954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375990228	chr6:71318978-71318979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375827767	chr6:71318979-71318980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187482536	chr6:71318980-71318981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530766435	chr6:71318999-71319000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142471901	chr6:71319003-71319004	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs112103592	chr6:71319006-71319007	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs374284293	chr6:71319053-71319054	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71312000-71319000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:71316800-71318400	Enhancers	Primary T cells from cord blood	blood
3	chr6:71319000-71319200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:71319200-71319600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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