Variant report

Variant	nsv970132
Chromosome Location	chr6:63920373-63922769
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:63922640-63922790	A549	lung:	n/a	n/a
2	CTCF	chr6:63922690-63922763	Fibrobl	skin:	n/a	n/a
3	CTCF	chr6:63922679-63922828	HepG2	liver:	n/a	n/a
4	CTCF	chr6:63922695-63922839	GM20000	blood:	n/a	n/a
5	CTCF	chr6:63922700-63922850	GM12878	blood:	n/a	n/a
6	CTCF	chr6:63922737-63922762	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr6:63922745-63922822	GM19238	blood:	n/a	n/a
8	CTCF	chr6:63922720-63922870	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr6:63922680-63922830	RPTEC	kidney:	n/a	n/a
10	CTCF	chr6:63922700-63922810	MCF-7	breast:	n/a	n/a
11	CTCF	chr6:63922738-63922787	MCF-7	breast:	n/a	n/a
12	CTCF	chr6:63922657-63922850	LNCaP	prostate:	n/a	n/a
13	CTCF	chr6:63922760-63922910	RPTEC	kidney:	n/a	n/a
14	CTCF	chr6:63922594-63922799	GM12878	blood:	n/a	n/a
15	CTCF	chr6:63922700-63922850	HEK293	kidney:	n/a	n/a
16	CTCF	chr6:63922700-63922850	WERI-Rb-1	eye:	n/a	n/a
17	CTCF	chr6:63922667-63922790	HepG2	liver:	n/a	n/a
18	CTCF	chr6:63922766-63922778	Medullo	brain:	n/a	n/a
19	CTCF	chr6:63921716-63921743	MCF-7	breast:	n/a	n/a
20	CTCF	chr6:63922685-63922757	Gliobla	brain:	n/a	n/a
21	CTCF	chr6:63922732-63922811	GM13977	blood:	n/a	n/a
22	CTCF	chr6:63922581-63922889	LNCaP	prostate:	n/a	n/a
23	MYC	chr6:63921406-63921472	MCF-7	breast:	n/a	n/a
24	MYC	chr6:63921474-63921492	MCF-7	breast:	n/a	n/a
25	POLR2A	chr6:63921543-63921824	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr6:63921632-63921701	A549	lung:	n/a	n/a
27	POLR2A	chr6:63921439-63921445	MCF-7	breast:	n/a	n/a
28	POLR2A	chr6:63921332-63921449	A549	lung:	n/a	n/a
29	POLR2A	chr6:63921335-63921409	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr6:63921348-63921423	MCF-7	breast:	n/a	n/a
31	POLR2A	chr6:63921340-63921440	A549	lung:	n/a	n/a
32	POLR2A	chr6:63921615-63921858	HepG2	liver:	n/a	n/a
33	POLR2A	chr6:63921346-63921454	A549	lung:	n/a	n/a
34	POLR2A	chr6:63921482-63921535	Gliobla	brain:	n/a	n/a
35	POLR2A	chr6:63921510-63921533	A549	lung:	n/a	n/a
36	POLR2A	chr6:63921315-63921411	Gliobla	brain:	n/a	n/a
37	POLR2A	chr6:63921744-63921789	K562	blood:	n/a	n/a
38	RAD21	chr6:63922685-63922897	HepG2	liver:	n/a	n/a
39	RAD21	chr6:63922645-63922907	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:63921501-63921551	SKMC	muscle:	n/a
2	chr6:63921501-63921551	BE2_C	brain:	n/a
3	chr6:63921501-63921551	NHBE	bronchial:	n/a
4	chr6:63921501-63921551	CMK	blood:	n/a
5	chr6:63921394-63921444	HepG2	liver:	n/a
6	chr6:63921458-63921508	ProgFib	skin:	n/a
7	chr6:63921458-63921508	HEK293	kidney:	embryo
8	chr6:63921458-63921508	SK-N-MC	brain:	n/a
9	chr6:63921394-63921444	ProgFib	skin:	n/a
10	chr6:63921394-63921444	Hela-S3	cervix:	n/a
11	chr6:63921394-63921444	NHBE	bronchial:	n/a
12	chr6:63921458-63921508	PFSK-1	brain:	n/a
13	chr6:63921501-63921551	HCPEpiC	choroid plexus:	n/a
14	chr6:63921501-63921551	HIPEpiC	eye:	n/a
15	chr6:63921501-63921551	SK-N-MC	brain:	n/a
16	chr6:63921458-63921508	HNPCEpiC	eye:	n/a
17	chr6:63921501-63921551	T-47D	breast:	n/a
18	chr6:63921394-63921444	Hepatocyte	liver:	n/a
19	chr6:63921458-63921508	SKMC	muscle:	n/a
20	chr6:63921394-63921444	HNPCEpiC	eye:	n/a
21	chr6:63921458-63921508	CMK	blood:	n/a
22	chr6:63921458-63921508	HEEpiC	esophagus:	n/a
23	chr6:63921394-63921444	K562	blood:	n/a
24	chr6:63921394-63921444	NT2-D1	testis:	n/a
25	chr6:63921458-63921508	U87	brain:	n/a
26	chr6:63921501-63921551	AG09309	skin:	n/a
27	chr6:63921394-63921444	SAEC	small airway:	n/a
28	chr6:63921458-63921508	PrEC	prostate:	n/a
29	chr6:63921458-63921508	SK-N-SH_RA	brain:	n/a
30	chr6:63921501-63921551	HEK293	kidney:	embryo
31	chr6:63921501-63921551	NT2-D1	testis:	n/a
32	chr6:63921501-63921551	GM12878	blood:	n/a
33	chr6:63921501-63921551	H1-hESC	embryonic stem cell:	embryo
34	chr6:63921501-63921551	GM12892	blood:	n/a
35	chr6:63921458-63921508	HAEpiC	amniotic membrane:	n/a
36	chr6:63921458-63921508	AG10803	skin:	n/a
37	chr6:63921501-63921551	GM06990	blood:	n/a
38	chr6:63921394-63921444	ovcar-3	ovarian:	n/a
39	chr6:63921501-63921551	NHDF-neo	bronchial:	n/a
40	chr6:63921458-63921508	HCF	heart:	n/a
41	chr6:63921394-63921444	MCF-7	breast:	n/a
42	chr6:63921394-63921444	HCM	heart:	n/a
43	chr6:63921394-63921444	HCT-116	colon:	n/a
44	chr6:63921394-63921444	IMR90	lung:	fetal
45	chr6:63921501-63921551	A549	lung:	n/a
46	chr6:63921501-63921551	IMR90	lung:	fetal
47	chr6:63921501-63921551	AG10803	skin:	n/a
48	chr6:63921394-63921444	AoSMC	blood vessel:	n/a
49	chr6:63921501-63921551	SAEC	small airway:	n/a
50	chr6:63921458-63921508	K562	blood:	n/a

No data

Variant related genes	Relation type
FKBP1C	TF binding region
FKBP1C	CpG island

Extended variants
information (count: 18 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578247120	chr6:63921358-63921359	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs372336950	chr6:63921360-63921361	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs4710420	chr6:63921361-63921362	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs527692375	chr6:63921363-63921364	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs559472605	chr6:63921364-63921365	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs549173761	chr6:63921373-63921374	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs532445120	chr6:63921393-63921394	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs561455176	chr6:63921395-63921396	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs145322889	chr6:63921398-63921399	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs370708882	chr6:63921413-63921414	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs11550409	chr6:63921417-63921418	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs549556802	chr6:63921425-63921426	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs374339224	chr6:63921434-63921435	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs538500009	chr6:63921437-63921438	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs76273486	chr6:63921442-63921443	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs565507387	chr6:63921453-63921454	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs536267612	chr6:63921455-63921456	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs79100944	chr6:63921456-63921457	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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