Variant report

Variant	esv3452875
Chromosome Location	chr10:49232746-49364894
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:335)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:335 , 50 per page) page: 1 2 3 4 5 6 7

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	chr10:49333765-49333977	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr10:49272320-49272583	K562	blood:	n/a	n/a
4	CEBPB	chr10:49333765-49333979	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr10:49333765-49333963	IMR90	lung:	n/a	n/a
6	CEBPB	chr10:49333760-49333984	K562	blood:	n/a	n/a
7	CEBPB	chr10:49333768-49333972	A549	lung:	n/a	n/a
8	CEBPB	chr10:49333704-49333958	K562	blood:	n/a	n/a
9	CEBPB	chr10:49334781-49335038	K562	blood:	n/a	n/a
10	CEBPB	chr10:49333603-49334066	K562	blood:	n/a	n/a
11	CEBPD	chr10:49333637-49334076	K562	blood:	n/a	n/a
12	CEBPD	chr10:49245923-49246196	K562	blood:	n/a	n/a
13	CTCF	chr10:49317165-49317256	Spleen_OC	spleen:	n/a	n/a
14	CTCF	chr10:49310785-49310798	Spleen_OC	spleen:	n/a	n/a
15	CTCF	chr10:49296326-49296382	GM12878	blood:	n/a	chr10:49296342-49296363 chr10:49296347-49296365
16	CTCF	chr10:49324167-49324237	Kidney_OC	kidney:	n/a	n/a
17	CTCF	chr10:49333771-49333965	LNCaP	prostate:	n/a	n/a
18	CTCF	chr10:49272338-49272634	GM10248	blood:	n/a	n/a
19	CTCF	chr10:49333540-49333690	AG04450	lung:	n/a	n/a
20	CTCF	chr10:49316472-49316503	Kidney_OC	kidney:	n/a	n/a
21	CTCF	chr10:49333754-49333964	A549	lung:	n/a	n/a
22	CTCF	chr10:49272162-49272690	A549	lung:	n/a	n/a
23	CTCF	chr10:49296226-49296479	LNCaP	prostate:	n/a	chr10:49296342-49296363 chr10:49296347-49296365
24	CTCF	chr10:49294209-49294327	Lung_OC	lung:	n/a	n/a
25	CTCF	chr10:49277990-49277995	Medullo	brain:	n/a	n/a
26	CTCF	chr10:49333822-49333971	Kidney_OC	kidney:	n/a	n/a
27	CTCF	chr10:49237845-49237880	Lung_OC	lung:	n/a	n/a
28	CTCF	chr10:49341639-49341691	LNCaP	prostate:	n/a	n/a
29	CTCF	chr10:49336802-49336879	LNCaP	prostate:	n/a	n/a
30	CTCF	chr10:49313555-49313613	GM10266	blood:	n/a	n/a
31	CTCF	chr10:49296591-49296596	GM20000	blood:	n/a	n/a
32	CTCF	chr10:49259675-49259829	LNCaP	prostate:	n/a	n/a
33	CTCF	chr10:49364499-49364555	GM10248	blood:	n/a	n/a
34	CTCF	chr10:49333808-49333912	GM10248	blood:	n/a	n/a
35	CTCF	chr10:49296295-49296453	Medullo	brain:	n/a	chr10:49296342-49296363 chr10:49296347-49296365
36	CTCF	chr10:49283350-49283440	Spleen_OC	spleen:	n/a	n/a
37	CTCF	chr10:49296097-49296533	A549	lung:	n/a	chr10:49296342-49296363 chr10:49296347-49296365
38	CTCF	chr10:49326722-49326782	LNCaP	prostate:	n/a	n/a
39	CTCF	chr10:49272321-49272672	A549	lung:	n/a	n/a
40	CTCF	chr10:49272341-49272650	LNCaP	prostate:	n/a	n/a
41	CTCF	chr10:49345456-49345537	Pancreas_OC	pancreas:	n/a	n/a
42	CTCF	chr10:49239491-49239601	HepG2	liver:	n/a	n/a
43	CTCF	chr10:49272351-49272670	Medullo	brain:	n/a	n/a
44	CTCF	chr10:49307703-49307753	GM13976	blood:	n/a	n/a
45	CTCF	chr10:49259446-49260000	A549	lung:	n/a	n/a
46	CTCF	chr10:49277999-49278083	Medullo	brain:	n/a	n/a
47	CTCF	chr10:49296165-49296517	A549	lung:	n/a	chr10:49296342-49296363 chr10:49296347-49296365
48	CTCF	chr10:49304272-49304410	Lung_OC	lung:	n/a	n/a
49	CTCF	chr10:49272302-49272667	LNCaP	prostate:	n/a	n/a
50	CTCF	chr10:49239500-49239650	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:49348564-49348614	MCF-7	breast:	n/a
2	chr10:49348564-49348614	ECC-1	luminal epithelium:	n/a
3	chr10:49348564-49348614	SAEC	small airway:	n/a
4	chr10:49348564-49348614	GM06990	blood:	n/a
5	chr10:49348564-49348614	PFSK-1	brain:	n/a
6	chr10:49348564-49348614	HL-60	blood:	n/a
7	chr10:49348564-49348614	HepG2	liver:	n/a
8	chr10:49348564-49348614	ProgFib	skin:	n/a
9	chr10:49348564-49348614	AG09319	gingival:	n/a
10	chr10:49348564-49348614	HRE	kidney:	n/a
11	chr10:49348564-49348614	SK-N-MC	brain:	n/a
12	chr10:49348564-49348614	HUVEC	blood vessel:	n/a
13	chr10:49348564-49348614	HCM	heart:	n/a
14	chr10:49348564-49348614	A549	lung:	n/a
15	chr10:49348564-49348614	T-47D	breast:	n/a
16	chr10:49348564-49348614	Hela-S3	cervix:	n/a
17	chr10:49348564-49348614	AoSMC	blood vessel:	n/a
18	chr10:49348564-49348614	HEK293	kidney:	embryo
19	chr10:49348564-49348614	IMR90	lung:	fetal
20	chr10:49348564-49348614	AG09309	skin:	n/a
21	chr10:49348564-49348614	CMK	blood:	n/a
22	chr10:49348564-49348614	NB4	blood:	n/a
23	chr10:49348564-49348614	Jurkat	blood:	n/a
24	chr10:49348564-49348614	GM12878	blood:	n/a
25	chr10:49348564-49348614	RPTEC	kidney:	n/a
26	chr10:49348564-49348614	BJ	skin:	n/a
27	chr10:49348564-49348614	Hepatocyte	liver:	n/a
28	chr10:49348564-49348614	SKMC	muscle:	n/a
29	chr10:49348564-49348614	GM19239	blood:	n/a
30	chr10:49348564-49348614	HPAEpiC	pulmonary alveolar:	n/a
31	chr10:49348564-49348614	LNCaP	prostate:	n/a
32	chr10:49348564-49348614	SK-N-SH_RA	brain:	n/a
33	chr10:49348564-49348614	NHBE	bronchial:	n/a
34	chr10:49348564-49348614	HEEpiC	esophagus:	n/a
35	chr10:49348564-49348614	AG04449	skin:	fetal
36	chr10:49348564-49348614	GM12892	blood:	n/a
37	chr10:49348564-49348614	BE2_C	brain:	n/a
38	chr10:49348564-49348614	Caco-2	colon:	n/a
39	chr10:49348564-49348614	H1-hESC	embryonic stem cell:	embryo
40	chr10:49348564-49348614	GM12891	blood:	n/a
41	chr10:49348564-49348614	HNPCEpiC	eye:	n/a
42	chr10:49348564-49348614	U87	brain:	n/a
43	chr10:49348564-49348614	HCF	heart:	n/a
44	chr10:49348564-49348614	PANC-1	pancreas:	n/a
45	chr10:49348564-49348614	K562	blood:	n/a
46	chr10:49348564-49348614	HRPEpiC	eye:	n/a
47	chr10:49348564-49348614	NH-A	brain:	n/a
48	chr10:49348564-49348614	HCT-116	colon:	n/a
49	chr10:49348564-49348614	AG04450	lung:	fetal
50	chr10:49348564-49348614	HIPEpiC	eye:	n/a

No data

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

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

No data

Variant related genes	Relation type
BMS1P7	TF binding region
ENSG00000232462	TF binding region
RNA5SP315	TF binding region
PTPN20CP	TF binding region
CTGLF12P	TF binding region
BMS1P7	CpG island
ENSG00000232462	CpG island
RNA5SP315	CpG island
PTPN20CP	CpG island
CTGLF12P	CpG island

Extended variants
information (count: 234 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:234 , 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	rs563947606	chr10:49239617-49239618	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs575955129	chr10:49239622-49239623	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs543232639	chr10:49239623-49239624	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs372981811	chr10:49239632-49239633	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs201814800	chr10:49239633-49239634	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs141790562	chr10:49239650-49239651	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs199659606	chr10:49239657-49239658	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs560971061	chr10:49239659-49239660	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs528149455	chr10:49239672-49239673	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs529909478	chr10:49240650-49240651	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs113477637	chr10:49240821-49240822	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs547995547	chr10:49241109-49241110	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs566584022	chr10:49241212-49241213	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs562108616	chr10:49242268-49242269	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs529626701	chr10:49242542-49242543	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs186547719	chr10:49242708-49242709	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs541749001	chr10:49243508-49243509	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs560389819	chr10:49243514-49243515	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs183384021	chr10:49243523-49243524	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs527530473	chr10:49243539-49243540	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs61839973	chr10:49243664-49243665	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs2801058	chr10:49243753-49243754	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs565235142	chr10:49243759-49243760	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs151153047	chr10:49243785-49243786	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs533988400	chr10:49243787-49243788	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs200246091	chr10:49243789-49243790	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs569305074	chr10:49243790-49243791	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs536647459	chr10:49243810-49243811	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs200534469	chr10:49243970-49243971	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs567113054	chr10:49244013-49244014	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs201544456	chr10:49244042-49244043	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs201755555	chr10:49244048-49244049	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs201491078	chr10:49244695-49244696	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs548517792	chr10:49244748-49244749	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs200694109	chr10:49244928-49244929	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs199813647	chr10:49245185-49245186	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs567075467	chr10:49245534-49245535	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs200838270	chr10:49245593-49245594	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs201614765	chr10:49245816-49245817	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs199977051	chr10:49245880-49245881	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs199918226	chr10:49245953-49245954	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs534470201	chr10:49246019-49246020	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs552578511	chr10:49246043-49246044	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs570738546	chr10:49246253-49246254	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs538045798	chr10:49246264-49246265	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs555877231	chr10:49246276-49246277	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs1058786	chr10:49246279-49246280	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs373839488	chr10:49246286-49246287	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs1058785	chr10:49246290-49246291	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs17011969	chr10:49246371-49246372	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:10 , 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

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