Variant report

Variant	nsv974948
Chromosome Location	chr10:52455264-52457848
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr10:52457565-52457966	K562	blood:	n/a	n/a
2	CTCF	chr10:52457721-52457807	GM12891	blood:	n/a	n/a
3	CTCF	chr10:52456727-52456775	Pancreas_OC	pancreas:	n/a	n/a
4	CTCF	chr10:52457636-52457860	Medullo	brain:	n/a	n/a
5	CTCF	chr10:52457701-52457795	GM10248	blood:	n/a	n/a
6	CTCF	chr10:52457708-52457834	GM13977	blood:	n/a	n/a
7	CTCF	chr10:52457673-52457867	LNCaP	prostate:	n/a	n/a
8	CTCF	chr10:52457733-52457810	LNCaP	prostate:	n/a	n/a
9	CTCF	chr10:52457561-52457989	A549	lung:	n/a	n/a
10	CTCF	chr10:52457698-52457810	GM20000	blood:	n/a	n/a
11	CTCF	chr10:52457610-52457811	K562	blood:	n/a	n/a
12	CTCF	chr10:52457686-52457916	Spleen_OC	spleen:	n/a	n/a
13	CTCF	chr10:52457685-52457816	GM10266	blood:	n/a	n/a
14	CTCF	chr10:52457715-52457801	GM12892	blood:	n/a	n/a
15	CTCF	chr10:52457760-52457910	HL-60	blood:	n/a	n/a
16	CTCF	chr10:52457717-52457802	GM13976	blood:	n/a	n/a
17	CTCF	chr10:52457625-52457895	A549	lung:	n/a	n/a
18	CTCF	chr10:52457716-52457819	HepG2	liver:	n/a	n/a
19	CTCF	chr10:52457556-52457911	K562	blood:	n/a	n/a
20	CTCF	chr10:52457593-52457850	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr10:52457705-52457823	A549	lung:	n/a	n/a
22	CTCF	chr10:52457651-52457867	A549	lung:	n/a	n/a
23	CTCF	chr10:52457666-52457837	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr10:52457702-52457812	MCF-7	breast:	n/a	n/a
25	CTCF	chr10:52457485-52457912	K562	blood:	n/a	n/a
26	CTCF	chr10:52457469-52457946	K562	blood:	n/a	n/a
27	CTCF	chr10:52457709-52457810	MCF-7	breast:	n/a	n/a
28	CTCF	chr10:52457591-52457844	A549	lung:	n/a	n/a
29	CTCF	chr10:52457703-52457825	Gliobla	brain:	n/a	n/a
30	CTCF	chr10:52457670-52457825	K562	blood:	n/a	n/a
31	CTCF	chr10:52457712-52457795	GM19240	blood:	n/a	n/a
32	CTCF	chr10:52457719-52457805	Hela-S3	cervix:	n/a	n/a
33	EGR1	chr10:52457235-52457436	K562	blood:	n/a	chr10:52457314-52457327
34	GATA2	chr10:52455496-52455811	K562	blood:	n/a	n/a
35	MAX	chr10:52457700-52457856	K562	blood:	n/a	n/a
36	RAD21	chr10:52457577-52457867	H1-hESC	embryonic stem cell:	n/a	chr10:52457719-52457731
37	SPI1	chr10:52457631-52457883	K562	blood:	n/a	n/a
38	SPI1	chr10:52457604-52457875	K562	blood:	n/a	n/a
39	USF1	chr10:52457670-52457822	HepG2	liver:	n/a	n/a
40	ZBTB33	chr10:52457608-52457944	K562	blood:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ASAH2B-5	chr10:52455352-52455741	NONHSAT013397

No data

Variant related genes	Relation type
ENSG00000226168	TF binding region

Extended variants
information (count: 112 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558501874	chr10:52455361-52455362	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs71205708	chr10:52455368-52455369	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs575381376	chr10:52455386-52455387	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs377017411	chr10:52455433-52455434	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs71238914	chr10:52455451-52455452	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs538006213	chr10:52455452-52455453	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs554924688	chr10:52455495-52455496	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs574739836	chr10:52455505-52455506	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs372634802	chr10:52455522-52455523	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs371971722	chr10:52455523-52455524	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs148033647	chr10:52455528-52455529	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs546262807	chr10:52455531-52455532	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs71238915	chr10:52455537-52455538	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs189275440	chr10:52455539-52455540	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs550249077	chr10:52455566-52455567	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs531952177	chr10:52455585-52455586	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs548325366	chr10:52455587-52455588	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs569874584	chr10:52455612-52455613	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs562051324	chr10:52455621-52455622	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs61857091	chr10:52455771-52455772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376448843	chr10:52455790-52455791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373477674	chr10:52455798-52455799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546239064	chr10:52455799-52455800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566442965	chr10:52455804-52455805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555017717	chr10:52455810-52455811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs193109774	chr10:52455817-52455818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185850642	chr10:52455829-52455830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190375234	chr10:52455882-52455883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554794685	chr10:52455889-52455890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370804688	chr10:52455897-52455898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181695403	chr10:52455908-52455909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534057259	chr10:52455962-52455963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553911333	chr10:52455963-52455964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577182472	chr10:52455964-52455965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545847846	chr10:52455986-52455987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73322822	chr10:52455996-52455997	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs186039081	chr10:52456020-52456021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115122813	chr10:52456037-52456038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572227896	chr10:52456065-52456066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528008138	chr10:52456108-52456109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548057436	chr10:52456109-52456110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564591893	chr10:52456143-52456144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370760872	chr10:52456162-52456163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534647700	chr10:52456191-52456192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532156808	chr10:52456198-52456199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139982978	chr10:52456254-52456255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568943613	chr10:52456305-52456306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537935528	chr10:52456358-52456359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554261252	chr10:52456369-52456370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568245079	chr10:52456376-52456377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Ollier disease	21235737	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52438200-52462000	Weak transcription	Spleen	Spleen

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