Variant report

Variant	nsv437672
Chromosome Location	chr10:49211286-49276342
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:248)
CpG islands
(count:62)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:248 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr10:49249785-49250052	K562	blood:	n/a	n/a
2	CEBPB	chr10:49272320-49272583	K562	blood:	n/a	n/a
3	CEBPD	chr10:49245923-49246196	K562	blood:	n/a	n/a
4	CTCF	chr10:49272335-49272664	Kidney_OC	kidney:	n/a	n/a
5	CTCF	chr10:49239441-49239673	K562	blood:	n/a	n/a
6	CTCF	chr10:49272162-49272690	A549	lung:	n/a	n/a
7	CTCF	chr10:49259515-49259904	A549	lung:	n/a	n/a
8	CTCF	chr10:49272279-49272623	K562	blood:	n/a	n/a
9	CTCF	chr10:49272400-49272640	GM13977	blood:	n/a	n/a
10	CTCF	chr10:49272788-49272900	GM20000	blood:	n/a	n/a
11	CTCF	chr10:49237845-49237880	Lung_OC	lung:	n/a	n/a
12	CTCF	chr10:49272913-49272930	Medullo	brain:	n/a	n/a
13	CTCF	chr10:49272351-49272670	Medullo	brain:	n/a	n/a
14	CTCF	chr10:49272133-49272822	A549	lung:	n/a	n/a
15	CTCF	chr10:49272349-49272649	Spleen_OC	spleen:	n/a	n/a
16	CTCF	chr10:49272278-49272640	K562	blood:	n/a	n/a
17	CTCF	chr10:49272248-49272591	A549	lung:	n/a	n/a
18	CTCF	chr10:49272420-49272615	GM13976	blood:	n/a	n/a
19	CTCF	chr10:49258572-49258622	GM10266	blood:	n/a	n/a
20	CTCF	chr10:49239500-49239650	HepG2	liver:	n/a	n/a
21	CTCF	chr10:49274548-49274599	GM20000	blood:	n/a	n/a
22	CTCF	chr10:49259538-49259816	A549	lung:	n/a	n/a
23	CTCF	chr10:49272302-49272667	LNCaP	prostate:	n/a	n/a
24	CTCF	chr10:49242573-49242599	GM13976	blood:	n/a	n/a
25	CTCF	chr10:49272338-49272634	GM10248	blood:	n/a	n/a
26	CTCF	chr10:49259675-49259829	LNCaP	prostate:	n/a	n/a
27	CTCF	chr10:49272341-49272650	LNCaP	prostate:	n/a	n/a
28	CTCF	chr10:49272381-49272623	GM10266	blood:	n/a	n/a
29	CTCF	chr10:49237934-49237976	LNCaP	prostate:	n/a	n/a
30	CTCF	chr10:49272369-49272660	Pancreas_OC	pancreas:	n/a	n/a
31	CTCF	chr10:49214010-49214069	Kidney_OC	kidney:	n/a	n/a
32	CTCF	chr10:49272245-49272699	K562	blood:	n/a	n/a
33	CTCF	chr10:49270654-49270757	GM10266	blood:	n/a	n/a
34	CTCF	chr10:49259606-49259857	A549	lung:	n/a	n/a
35	CTCF	chr10:49272321-49272672	A549	lung:	n/a	n/a
36	CTCF	chr10:49272391-49272606	GM20000	blood:	n/a	n/a
37	CTCF	chr10:49259446-49260000	A549	lung:	n/a	n/a
38	CTCF	chr10:49270606-49270623	Medullo	brain:	n/a	n/a
39	CTCF	chr10:49215225-49215278	Lung_OC	lung:	n/a	n/a
40	CTCF	chr10:49272339-49272655	Lung_OC	lung:	n/a	n/a
41	CTCF	chr10:49272166-49272215	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr10:49221779-49221831	GM13976	blood:	n/a	n/a
43	CTCF	chr10:49259674-49259833	LNCaP	prostate:	n/a	n/a
44	CTCF	chr10:49239491-49239601	HepG2	liver:	n/a	n/a
45	EP300	chr10:49218765-49219253	GM12878	blood:	n/a	n/a
46	EP300	chr10:49215281-49215908	GM12878	blood:	n/a	n/a
47	ESR1	chr10:49254403-49254960	T-47D	breast:	n/a	n/a
48	FOSL2	chr10:49248819-49249369	HepG2	liver:	n/a	n/a
49	FOSL2	chr10:49259582-49260076	HepG2	liver:	n/a	chr10:49259869-49259878 chr10:49259868-49259880 chr10:49259870-49259879 chr10:49259870-49259877 chr10:49259870-49259878
50	FOSL2	chr10:49211752-49212004	HepG2	liver:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:49218579-49218629	AoSMC	blood vessel:	n/a
2	chr10:49218579-49218629	AoSMC	blood vessel:	n/a
3	chr10:49218579-49218629	MCF10A-Er-Src	breast:	n/a
4	chr10:49218579-49218629	GM19239	blood:	n/a
5	chr10:49218579-49218629	IMR90	lung:	fetal
6	chr10:49218579-49218629	CMK	blood:	n/a
7	chr10:49218579-49218629	AG10803	skin:	n/a
8	chr10:49218579-49218629	SAEC	small airway:	n/a
9	chr10:49218579-49218629	K562	blood:	n/a
10	chr10:49218579-49218629	HRCEpiC	kidney:	n/a
11	chr10:49218579-49218629	SKMC	muscle:	n/a
12	chr10:49218579-49218629	Hepatocyte	liver:	n/a
13	chr10:49218579-49218629	HepG2	liver:	n/a
14	chr10:49218579-49218629	AG09309	skin:	n/a
15	chr10:49218579-49218629	HCF	heart:	n/a
16	chr10:49218579-49218629	NHDF-neo	bronchial:	n/a
17	chr10:49218579-49218629	HMEC	breast:	n/a
18	chr10:49218579-49218629	GM12878	blood:	n/a
19	chr10:49218579-49218629	NB4	blood:	n/a
20	chr10:49218579-49218629	PANC-1	pancreas:	n/a
21	chr10:49218579-49218629	AG04449	skin:	fetal
22	chr10:49218579-49218629	A549	lung:	n/a
23	chr10:49218579-49218629	HL-60	blood:	n/a
24	chr10:49218579-49218629	H1-hESC	embryonic stem cell:	embryo
25	chr10:49218579-49218629	HEK293	kidney:	embryo
26	chr10:49218579-49218629	Hela-S3	cervix:	n/a
27	chr10:49218579-49218629	HRPEpiC	eye:	n/a
28	chr10:49218579-49218629	SK-N-SH_RA	brain:	n/a
29	chr10:49218579-49218629	AG04450	lung:	fetal
30	chr10:49218579-49218629	HIPEpiC	eye:	n/a
31	chr10:49218579-49218629	NHBE	bronchial:	n/a
32	chr10:49218579-49218629	HEEpiC	esophagus:	n/a
33	chr10:49218579-49218629	BJ	skin:	n/a
34	chr10:49218579-49218629	HNPCEpiC	eye:	n/a
35	chr10:49218579-49218629	HRE	kidney:	n/a
36	chr10:49218579-49218629	HAEpiC	amniotic membrane:	n/a
37	chr10:49218579-49218629	HCT-116	colon:	n/a
38	chr10:49218579-49218629	SK-N-MC	brain:	n/a
39	chr10:49218579-49218629	ProgFib	skin:	n/a
40	chr10:49218579-49218629	GM06990	blood:	n/a
41	chr10:49218579-49218629	U87	brain:	n/a
42	chr10:49218579-49218629	NH-A	brain:	n/a
43	chr10:49218579-49218629	MCF-7	breast:	n/a
44	chr10:49218579-49218629	PrEC	prostate:	n/a
45	chr10:49218579-49218629	BE2_C	brain:	n/a
46	chr10:49218579-49218629	SK-N-SH	brain:	n/a
47	chr10:49218579-49218629	NT2-D1	testis:	n/a
48	chr10:49218579-49218629	Caco-2	colon:	n/a
49	chr10:49218579-49218629	HCM	heart:	n/a
50	chr10:49218579-49218629	HPAEpiC	pulmonary alveolar:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPN20B-1	chr10:49244690-49248867	NONHSAT013237

No data

Variant related genes	Relation type
FAM25C	TF binding region
BMS1P7	TF binding region
RNA5SP315	TF binding region
CTGLF12P	TF binding region
FAM25C	CpG island
BMS1P7	CpG island
RNA5SP315	CpG island
CTGLF12P	CpG island

Extended variants
information (count: 107 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377434052	chr10:49211779-49211780	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs199981955	chr10:49211804-49211805	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs551018022	chr10:49211875-49211876	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs374040968	chr10:49211901-49211902	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs547592203	chr10:49211905-49211906	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs576072124	chr10:49212163-49212164	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs536664208	chr10:49212192-49212193	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs555315804	chr10:49212211-49212212	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs191858619	chr10:49212214-49212215	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs369603495	chr10:49212284-49212285	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs541288415	chr10:49212322-49212323	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs559678304	chr10:49212371-49212372	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs577960772	chr10:49212456-49212457	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs545168556	chr10:49212754-49212755	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs564459877	chr10:49212761-49212762	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs377602669	chr10:49212781-49212782	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs549907559	chr10:49212799-49212800	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs562072116	chr10:49212818-49212819	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs563947606	chr10:49239617-49239618	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs575955129	chr10:49239622-49239623	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs543232639	chr10:49239623-49239624	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs372981811	chr10:49239632-49239633	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs201814800	chr10:49239633-49239634	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs141790562	chr10:49239650-49239651	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs199659606	chr10:49239657-49239658	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs560971061	chr10:49239659-49239660	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs528149455	chr10:49239672-49239673	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs529909478	chr10:49240650-49240651	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs113477637	chr10:49240821-49240822	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs547995547	chr10:49241109-49241110	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs566584022	chr10:49241212-49241213	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs562108616	chr10:49242268-49242269	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs529626701	chr10:49242542-49242543	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs186547719	chr10:49242708-49242709	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs541749001	chr10:49243508-49243509	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs560389819	chr10:49243514-49243515	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs183384021	chr10:49243523-49243524	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs527530473	chr10:49243539-49243540	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs61839973	chr10:49243664-49243665	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs2801058	chr10:49243753-49243754	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs565235142	chr10:49243759-49243760	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs151153047	chr10:49243785-49243786	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs533988400	chr10:49243787-49243788	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs200246091	chr10:49243789-49243790	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs569305074	chr10:49243790-49243791	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs536647459	chr10:49243810-49243811	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs200534469	chr10:49243970-49243971	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs567113054	chr10:49244013-49244014	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs201544456	chr10:49244042-49244043	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs201755555	chr10:49244048-49244049	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Schizophrenia	23813976	CNVD
Acute myeloid leukemia	19651601	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Rett syndrome	21593744	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	21948486	CNVD
cleft palate	21948486	CNVD
Encephalopathy	21948486	CNVD
Lung cancer	18438408	CNVD
T-cell primary immunodeficiency	21948486	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
speech delay	21948486	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No data

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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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