Variant report

Variant	nsv962357
Chromosome Location	chr17:60336659-60369016
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:569)
CpG islands
(count:428)
Chromatin interactive
region (count:0)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:569 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr17:60346379-60346858	GM12878	blood:	n/a	n/a
2	BATF	chr17:60346434-60346739	GM12878	blood:	n/a	n/a
3	BATF	chr17:60342272-60342635	GM12878	blood:	n/a	n/a
4	BATF	chr17:60346936-60347141	GM12878	blood:	n/a	n/a
5	BATF	chr17:60347026-60347224	GM12878	blood:	n/a	n/a
6	BCL11A	chr17:60341360-60341525	GM12878	blood:	n/a	n/a
7	BCL11A	chr17:60350711-60350893	GM12878	blood:	n/a	n/a
8	BCL11A	chr17:60342553-60342849	GM12878	blood:	n/a	n/a
9	BCL11A	chr17:60346541-60346767	GM12878	blood:	n/a	n/a
10	BHLHE40	chr17:60349418-60349638	HepG2	liver:	n/a	n/a
11	BHLHE40	chr17:60342360-60342706	HepG2	liver:	n/a	n/a
12	BHLHE40	chr17:60346485-60346772	HepG2	liver:	n/a	n/a
13	BHLHE40	chr17:60352818-60353029	HepG2	liver:	n/a	n/a
14	CTCF	chr17:60342502-60342702	Pancreas_OC	pancreas:	n/a	n/a
15	CTCF	chr17:60342528-60342640	GM19238	blood:	n/a	n/a
16	CTCF	chr17:60342511-60342652	Fibrobl	skin:	n/a	n/a
17	CTCF	chr17:60342471-60342669	A549	lung:	n/a	n/a
18	CTCF	chr17:60354696-60354799	Medullo	brain:	n/a	n/a
19	CTCF	chr17:60342206-60342882	A549	lung:	n/a	n/a
20	CTCF	chr17:60342420-60342570	RPTEC	kidney:	n/a	n/a
21	CTCF	chr17:60342509-60342635	Medullo	brain:	n/a	n/a
22	CTCF	chr17:60342290-60342820	A549	lung:	n/a	n/a
23	CTCF	chr17:60342340-60342490	HEK293	kidney:	n/a	n/a
24	CTCF	chr17:60342360-60342510	HepG2	liver:	n/a	n/a
25	CTCF	chr17:60342423-60342714	LNCaP	prostate:	n/a	n/a
26	CTCF	chr17:60342421-60342690	MCF-7	breast:	n/a	n/a
27	CTCF	chr17:60342553-60342618	Lung_OC	lung:	n/a	n/a
28	CTCF	chr17:60360805-60360846	GM13976	blood:	n/a	n/a
29	CTCF	chr17:60342517-60342634	GM19240	blood:	n/a	n/a
30	CTCF	chr17:60342400-60342550	A549	lung:	n/a	n/a
31	CTCF	chr17:60347807-60347908	GM20000	blood:	n/a	n/a
32	CTCF	chr17:60342530-60342553	GM10266	blood:	n/a	n/a
33	CTCF	chr17:60342314-60342729	K562	blood:	n/a	n/a
34	CTCF	chr17:60361730-60361782	GM13976	blood:	n/a	n/a
35	CTCF	chr17:60342508-60342618	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr17:60342253-60342803	A549	lung:	n/a	n/a
37	CTCF	chr17:60342409-60342705	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr17:60342311-60342709	K562	blood:	n/a	n/a
39	CTCF	chr17:60342360-60342510	HCT-116	colon:	n/a	n/a
40	CTCF	chr17:60342400-60342550	HCT-116	colon:	n/a	n/a
41	CTCF	chr17:60342416-60342701	MCF-7	breast:	n/a	n/a
42	CTCF	chr17:60342360-60342510	HEK293	kidney:	n/a	n/a
43	CTCF	chr17:60342513-60342654	GM12892	blood:	n/a	n/a
44	CTCF	chr17:60342341-60342927	K562	blood:	n/a	n/a
45	CTCF	chr17:60342510-60342633	GM12878	blood:	n/a	n/a
46	CTCF	chr17:60342506-60342510	NHEK	skin:	n/a	n/a
47	CTCF	chr17:60342540-60342625	GM19239	blood:	n/a	n/a
48	CTCF	chr17:60342470-60342670	HepG2	liver:	n/a	n/a
49	CTCF	chr17:60342558-60342621	HUVEC	blood vessel:	n/a	n/a
50	CTCF	chr17:60342485-60342678	Gliobla	brain:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:60353177-60353227	ovcar-3	ovarian:	n/a
2	chr17:60353177-60353227	ovcar-3	ovarian:	n/a
3	chr17:60353177-60353227	NH-A	brain:	n/a
4	chr17:60342517-60342567	GM19239	blood:	n/a
5	chr17:60347626-60347676	HAEpiC	amniotic membrane:	n/a
6	chr17:60347626-60347676	U87	brain:	n/a
7	chr17:60353177-60353227	AG10803	skin:	n/a
8	chr17:60354306-60354356	BE2_C	brain:	n/a
9	chr17:60349339-60349389	NB4	blood:	n/a
10	chr17:60349109-60349159	GM12878	blood:	n/a
11	chr17:60349109-60349159	H1-hESC	embryonic stem cell:	embryo
12	chr17:60348211-60348261	HMEC	breast:	n/a
13	chr17:60349339-60349389	BE2_C	brain:	n/a
14	chr17:60354306-60354356	BJ	skin:	n/a
15	chr17:60347626-60347676	Caco-2	colon:	n/a
16	chr17:60348211-60348261	NT2-D1	testis:	n/a
17	chr17:60342517-60342567	GM12892	blood:	n/a
18	chr17:60349109-60349159	LNCaP	prostate:	n/a
19	chr17:60342517-60342567	NHBE	bronchial:	n/a
20	chr17:60347626-60347676	GM06990	blood:	n/a
21	chr17:60354306-60354356	GM12878	blood:	n/a
22	chr17:60353177-60353227	BE2_C	brain:	n/a
23	chr17:60349109-60349159	PrEC	prostate:	n/a
24	chr17:60353177-60353227	HMEC	breast:	n/a
25	chr17:60353177-60353227	NB4	blood:	n/a
26	chr17:60354306-60354356	HMEC	breast:	n/a
27	chr17:60349339-60349389	HUVEC	blood vessel:	n/a
28	chr17:60349339-60349389	NT2-D1	testis:	n/a
29	chr17:60353177-60353227	Jurkat	blood:	n/a
30	chr17:60347626-60347676	CMK	blood:	n/a
31	chr17:60354306-60354356	ovcar-3	ovarian:	n/a
32	chr17:60349109-60349159	SAEC	small airway:	n/a
33	chr17:60353177-60353227	HAEpiC	amniotic membrane:	n/a
34	chr17:60347626-60347676	BJ	skin:	n/a
35	chr17:60342517-60342567	IMR90	lung:	fetal
36	chr17:60348211-60348261	HEEpiC	esophagus:	n/a
37	chr17:60348211-60348261	H1-hESC	embryonic stem cell:	embryo
38	chr17:60354306-60354356	ECC-1	luminal epithelium:	n/a
39	chr17:60348211-60348261	GM19239	blood:	n/a
40	chr17:60342517-60342567	HCPEpiC	choroid plexus:	n/a
41	chr17:60354306-60354356	HCM	heart:	n/a
42	chr17:60353177-60353227	SK-N-MC	brain:	n/a
43	chr17:60349339-60349389	AG04450	lung:	fetal
44	chr17:60353177-60353227	AoSMC	blood vessel:	n/a
45	chr17:60349109-60349159	PFSK-1	brain:	n/a
46	chr17:60342517-60342567	PrEC	prostate:	n/a
47	chr17:60349109-60349159	NH-A	brain:	n/a
48	chr17:60354306-60354356	PFSK-1	brain:	n/a
49	chr17:60347626-60347676	RPTEC	kidney:	n/a
50	chr17:60349339-60349389	HEEpiC	esophagus:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EFCAB3-4	chr17:60353068-60353173	NONHSAT055149
2	lnc-EFCAB3-5	chr17:60337995-60338134	NONHSAT055148
3	lnc-EFCAB3-5	chr17:60339222-60339297	NONHSAT055148
4	lnc-EFCAB3-4	chr17:60353621-60353920	NONHSAT055149
5	lnc-EFCAB3-3	chr17:60354001-60354372	expReg_chr17_10444_+

No data

Variant related genes	Relation type
ENSG00000266647	TF binding region
TBC1D3P2	TF binding region
ENSG00000270033	TF binding region
ENSG00000266647	CpG island
TBC1D3P2	CpG island
ENSG00000270033	CpG island

Extended variants
information (count: 210 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:210 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533497130	chr17:60336678-60336679	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs185156007	chr17:60336688-60336689	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs142989430	chr17:60336697-60336698	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs577182110	chr17:60336724-60336725	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs555456881	chr17:60336771-60336772	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs199865248	chr17:60336786-60336787	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs565999283	chr17:60336789-60336790	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs200259801	chr17:60336843-60336844	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs190397758	chr17:60336856-60336857	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs140205530	chr17:60336906-60336907	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs111838065	chr17:60336941-60336942	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs182037573	chr17:60336945-60336946	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs546151469	chr17:60336965-60336966	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs556473140	chr17:60336966-60336967	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs576125789	chr17:60336970-60336971	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs541809024	chr17:60337017-60337018	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs559797876	chr17:60337122-60337123	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs561772274	chr17:60337143-60337144	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs527443163	chr17:60337200-60337201	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs541113114	chr17:60337206-60337207	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs564560754	chr17:60337213-60337214	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs530273690	chr17:60337235-60337236	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs550082494	chr17:60337238-60337239	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs569980422	chr17:60337284-60337285	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs529258040	chr17:60337290-60337291	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs575443420	chr17:60337294-60337295	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs111319255	chr17:60337320-60337321	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs373166687	chr17:60337340-60337341	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs566060216	chr17:60337389-60337390	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs139475599	chr17:60337408-60337409	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs558213029	chr17:60337416-60337417	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs570579097	chr17:60337435-60337436	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs148526796	chr17:60337486-60337487	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs142859903	chr17:60337489-60337490	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs151072559	chr17:60337490-60337491	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs537620083	chr17:60337502-60337503	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs576360746	chr17:60337506-60337507	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs535747183	chr17:60337562-60337563	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs555110976	chr17:60337576-60337577	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs571992908	chr17:60337596-60337597	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs540797012	chr17:60337633-60337634	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs564180653	chr17:60337634-60337635	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs578121918	chr17:60337638-60337639	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs543569016	chr17:60337680-60337681	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs563640857	chr17:60337687-60337688	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs529589410	chr17:60337771-60337772	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs549254927	chr17:60337798-60337799	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs559519617	chr17:60337824-60337825	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs372877225	chr17:60337840-60337841	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs62069077	chr17:60337860-60337861	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Neuroblastoma	18923191	CNVD
Bladder cancer	21909424	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
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
Chordoma	18071362	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21858162	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
XY sex reversal	17503084	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17899364	CNVD
Multiple myeloma	16616336	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	16620391	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21611746	CNVD
Williams-Beuren syndrome	16971481	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Cancer	21129771	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60353000-60353200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links