Variant report

Variant	nsv895363
Chromosome Location	chr10:49246290-49381635
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:404)
CpG islands
(count:245)
Chromatin interactive
region (count:0)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

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	chr10:49334781-49335038	K562	blood:	n/a	n/a
3	CEBPB	chr10:49333704-49333958	K562	blood:	n/a	n/a
4	CEBPB	chr10:49272320-49272583	K562	blood:	n/a	n/a
5	CEBPB	chr10:49333765-49333979	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr10:49333760-49333984	K562	blood:	n/a	n/a
7	CEBPB	chr10:49333765-49333963	IMR90	lung:	n/a	n/a
8	CEBPB	chr10:49333765-49333977	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr10:49333603-49334066	K562	blood:	n/a	n/a
10	CEBPB	chr10:49333768-49333972	A549	lung:	n/a	n/a
11	CEBPD	chr10:49333637-49334076	K562	blood:	n/a	n/a
12	CTCF	chr10:49333764-49333997	LNCaP	prostate:	n/a	n/a
13	CTCF	chr10:49355736-49355777	GM10248	blood:	n/a	n/a
14	CTCF	chr10:49368780-49368930	HRPEpiC	eye:	n/a	n/a
15	CTCF	chr10:49368800-49368950	GM12865	blood:	n/a	n/a
16	CTCF	chr10:49368800-49368950	GM12870	blood:	n/a	n/a
17	CTCF	chr10:49368766-49369030	A549	lung:	n/a	n/a
18	CTCF	chr10:49353698-49353773	Lung_OC	lung:	n/a	n/a
19	CTCF	chr10:49272400-49272640	GM13977	blood:	n/a	n/a
20	CTCF	chr10:49368876-49368969	A549	lung:	n/a	n/a
21	CTCF	chr10:49368800-49368950	GM12873	blood:	n/a	n/a
22	CTCF	chr10:49368800-49368950	NHDF-neo	bronchial:	n/a	n/a
23	CTCF	chr10:49368800-49368950	HCT-116	colon:	n/a	n/a
24	CTCF	chr10:49368840-49368972	Spleen_OC	spleen:	n/a	n/a
25	CTCF	chr10:49348157-49348273	Pancreas_OC	pancreas:	n/a	n/a
26	CTCF	chr10:49291010-49291108	GM20000	blood:	n/a	n/a
27	CTCF	chr10:49368819-49369063	A549	lung:	n/a	n/a
28	CTCF	chr10:49272369-49272660	Pancreas_OC	pancreas:	n/a	n/a
29	CTCF	chr10:49368760-49368910	HCPEpiC	choroid plexus:	n/a	n/a
30	CTCF	chr10:49347896-49347953	GM10266	blood:	n/a	n/a
31	CTCF	chr10:49368817-49369104	LNCaP	prostate:	n/a	n/a
32	CTCF	chr10:49368760-49368910	HPAF	blood vessel:	n/a	n/a
33	CTCF	chr10:49368760-49368910	HPF	lung:	n/a	n/a
34	CTCF	chr10:49277999-49278083	Medullo	brain:	n/a	n/a
35	CTCF	chr10:49304272-49304410	Lung_OC	lung:	n/a	n/a
36	CTCF	chr10:49272162-49272690	A549	lung:	n/a	n/a
37	CTCF	chr10:49296723-49296790	Spleen_OC	spleen:	n/a	n/a
38	CTCF	chr10:49368798-49368973	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr10:49368872-49368960	GM19240	blood:	n/a	n/a
40	CTCF	chr10:49272321-49272672	A549	lung:	n/a	n/a
41	CTCF	chr10:49368780-49368930	GM12870	blood:	n/a	n/a
42	CTCF	chr10:49368823-49368942	HepG2	liver:	n/a	n/a
43	CTCF	chr10:49272278-49272640	K562	blood:	n/a	n/a
44	CTCF	chr10:49368888-49368952	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr10:49321575-49321626	Kidney_OC	kidney:	n/a	n/a
46	CTCF	chr10:49333902-49333943	Gliobla	brain:	n/a	n/a
47	CTCF	chr10:49293109-49293180	GM20000	blood:	n/a	n/a
48	CTCF	chr10:49272335-49272664	Kidney_OC	kidney:	n/a	n/a
49	CTCF	chr10:49368760-49368910	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr10:49368898-49368953	NHEK	skin:	n/a	n/a

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:49365197-49365247	GM19239	blood:	n/a
2	chr10:49365197-49365247	GM19239	blood:	n/a
3	chr10:49381591-49381641	BE2_C	brain:	n/a
4	chr10:49378921-49378971	SK-N-SH	brain:	n/a
5	chr10:49378921-49378971	NB4	blood:	n/a
6	chr10:49365197-49365247	SKMC	muscle:	n/a
7	chr10:49348564-49348614	SK-N-MC	brain:	n/a
8	chr10:49378921-49378971	Hela-S3	cervix:	n/a
9	chr10:49378921-49378971	Caco-2	colon:	n/a
10	chr10:49348564-49348614	HRPEpiC	eye:	n/a
11	chr10:49381591-49381641	K562	blood:	n/a
12	chr10:49348564-49348614	AG09309	skin:	n/a
13	chr10:49348564-49348614	LNCaP	prostate:	n/a
14	chr10:49381591-49381641	HL-60	blood:	n/a
15	chr10:49348564-49348614	AG04450	lung:	fetal
16	chr10:49365197-49365247	HRPEpiC	eye:	n/a
17	chr10:49381591-49381641	IMR90	lung:	fetal
18	chr10:49378921-49378971	HUVEC	blood vessel:	n/a
19	chr10:49348564-49348614	HNPCEpiC	eye:	n/a
20	chr10:49348564-49348614	ProgFib	skin:	n/a
21	chr10:49348564-49348614	HPAEpiC	pulmonary alveolar:	n/a
22	chr10:49378921-49378971	NH-A	brain:	n/a
23	chr10:49365197-49365247	NB4	blood:	n/a
24	chr10:49378921-49378971	HRE	kidney:	n/a
25	chr10:49378921-49378971	MCF10A-Er-Src	breast:	n/a
26	chr10:49378921-49378971	GM06990	blood:	n/a
27	chr10:49378921-49378971	GM12892	blood:	n/a
28	chr10:49378921-49378971	HCF	heart:	n/a
29	chr10:49381591-49381641	MCF-7	breast:	n/a
30	chr10:49378921-49378971	SK-N-MC	brain:	n/a
31	chr10:49348564-49348614	HUVEC	blood vessel:	n/a
32	chr10:49381591-49381641	HEK293	kidney:	embryo
33	chr10:49381591-49381641	SKMC	muscle:	n/a
34	chr10:49365197-49365247	AG04449	skin:	fetal
35	chr10:49378921-49378971	Jurkat	blood:	n/a
36	chr10:49348564-49348614	H1-hESC	embryonic stem cell:	embryo
37	chr10:49381591-49381641	AoSMC	blood vessel:	n/a
38	chr10:49381591-49381641	Jurkat	blood:	n/a
39	chr10:49381591-49381641	AG09319	gingival:	n/a
40	chr10:49381591-49381641	HNPCEpiC	eye:	n/a
41	chr10:49381591-49381641	PrEC	prostate:	n/a
42	chr10:49365197-49365247	MCF10A-Er-Src	breast:	n/a
43	chr10:49348564-49348614	A549	lung:	n/a
44	chr10:49378921-49378971	AG10803	skin:	n/a
45	chr10:49378921-49378971	HPAEpiC	pulmonary alveolar:	n/a
46	chr10:49348564-49348614	NB4	blood:	n/a
47	chr10:49365197-49365247	AG09319	gingival:	n/a
48	chr10:49381591-49381641	Caco-2	colon:	n/a
49	chr10:49381591-49381641	GM19239	blood:	n/a
50	chr10:49365197-49365247	HEK293	kidney:	embryo

No data

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPN20C-1	chr10:49364136-49364177	ENSG00000232462.1
2	lnc-PTPN20C-1	chr10:49363368-49363746	ENSG00000232462.1
3	lnc-PTPN20B-1	chr10:49244690-49248867	NONHSAT013237
4	lnc-PTPN20C-3	chr10:49346057-49347865	ucscGeneNc_uc001jgw_2
5	lnc-MAPK8-6	chr10:49313937-49314716	expReg_chr10_2502_+
6	lnc-PTPN20C-3	chr10:49357092-49357245	ucscGeneNc_uc001jgw_2
7	lnc-MAPK8-5	chr10:49316927-49317254	expReg_chr10_2514_+

No data

Variant related genes	Relation type
PTPN20CP	TF binding region
BMS1P7	TF binding region
ENSG00000232462	TF binding region
RNA5SP315	TF binding region
PTPN20CP	CpG island
BMS1P7	CpG island
ENSG00000232462	CpG island
RNA5SP315	CpG island

Extended variants
information (count: 266 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1058785	chr10:49246290-49246291	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs17011969	chr10:49246371-49246372	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs574151906	chr10:49246460-49246461	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs535105460	chr10:49246479-49246480	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs367721451	chr10:49246484-49246485	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs553698652	chr10:49246486-49246487	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs371365169	chr10:49246534-49246535	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs571932281	chr10:49246577-49246578	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs376837150	chr10:49246588-49246589	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs587718644	chr10:49246643-49246644	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs202194977	chr10:49246653-49246654	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs200706797	chr10:49246737-49246738	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs546108362	chr10:49246774-49246775	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs200672222	chr10:49246827-49246828	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs3013993	chr10:49246858-49246859	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs201927757	chr10:49246864-49246865	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs541552757	chr10:49246884-49246885	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs576348597	chr10:49246894-49246895	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs543601435	chr10:49246895-49246896	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs562973881	chr10:49246898-49246899	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs200944257	chr10:49246947-49246948	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs202076189	chr10:49247002-49247003	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs541875180	chr10:49247014-49247015	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs560568331	chr10:49247026-49247027	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs527663088	chr10:49247027-49247028	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs552879511	chr10:49247176-49247177	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs113423604	chr10:49247931-49247932	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs199894674	chr10:49248224-49248225	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs61839976	chr10:49248347-49248348	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs61839977	chr10:49248353-49248354	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs201188639	chr10:49248586-49248587	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs534741421	chr10:49248609-49248610	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs559009810	chr10:49248631-49248632	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs538288633	chr10:49248634-49248635	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs558608742	chr10:49248662-49248663	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs539280361	chr10:49248776-49248777	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs570801069	chr10:49248794-49248795	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs531794713	chr10:49248803-49248804	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs549913048	chr10:49248820-49248821	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs111986834	chr10:49272421-49272422	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs9418869	chr10:49272468-49272469	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs138195894	chr10:49310509-49310510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185504229	chr10:49310590-49310591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191579497	chr10:49310598-49310599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558449027	chr10:49310648-49310649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143098719	chr10:49310649-49310650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544165530	chr10:49310739-49310740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562733244	chr10:49310782-49310783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529844001	chr10:49311107-49311108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543145062	chr10:49311127-49311128	Enhancers	n/a	n/a	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49310400-49310800	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr10:49310400-49310800	Enhancers	Fetal Thymus	thymus
3	chr10:49310400-49311200	Enhancers	Dnd41	blood
4	chr10:49318600-49319000	Enhancers	Dnd41	blood
5	chr10:49356400-49357000	Enhancers	Dnd41	blood
6	chr10:49361000-49361200	Enhancers	Fetal Thymus	thymus
7	chr10:49361200-49362200	Weak transcription	Fetal Thymus	thymus
8	chr10:49362200-49363000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr10:49362200-49363200	Enhancers	Fetal Thymus	thymus
10	chr10:49362800-49363600	Enhancers	Dnd41	blood
11	chr10:49378400-49379000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr10:49379000-49380400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr10:49380400-49381000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr10:49380400-49381800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr10:49380600-49381000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr10:49380600-49381000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr10:49380800-49381000	Enhancers	Brain Substantia Nigra	brain
18	chr10:49381000-49390400	Weak transcription	Brain Substantia Nigra	brain

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