Variant report

Variant	esv2763891
Chromosome Location	chr10:49201820-49363009
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:421)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:421 , 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	chr10:49333765-49333979	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr10:49333704-49333958	K562	blood:	n/a	n/a
4	CEBPB	chr10:49333760-49333984	K562	blood:	n/a	n/a
5	CEBPB	chr10:49334781-49335038	K562	blood:	n/a	n/a
6	CEBPB	chr10:49333603-49334066	K562	blood:	n/a	n/a
7	CEBPB	chr10:49272320-49272583	K562	blood:	n/a	n/a
8	CEBPB	chr10:49333768-49333972	A549	lung:	n/a	n/a
9	CEBPB	chr10:49333765-49333977	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr10:49333765-49333963	IMR90	lung:	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	chr10:49341037-49341100	GM20000	blood:	n/a	n/a
14	CTCF	chr10:49333640-49333790	HPF	lung:	n/a	n/a
15	CTCF	chr10:49313555-49313613	GM10266	blood:	n/a	n/a
16	CTCF	chr10:49237845-49237880	Lung_OC	lung:	n/a	n/a
17	CTCF	chr10:49272335-49272664	Kidney_OC	kidney:	n/a	n/a
18	CTCF	chr10:49239500-49239650	HepG2	liver:	n/a	n/a
19	CTCF	chr10:49259446-49260000	A549	lung:	n/a	n/a
20	CTCF	chr10:49292554-49292664	GM20000	blood:	n/a	n/a
21	CTCF	chr10:49296334-49296422	Pancreas_OC	pancreas:	n/a	chr10:49296342-49296363 chr10:49296347-49296365
22	CTCF	chr10:49277990-49277995	Medullo	brain:	n/a	n/a
23	CTCF	chr10:49326722-49326782	LNCaP	prostate:	n/a	n/a
24	CTCF	chr10:49274548-49274599	GM20000	blood:	n/a	n/a
25	CTCF	chr10:49348259-49348321	GM20000	blood:	n/a	n/a
26	CTCF	chr10:49296309-49296413	GM13977	blood:	n/a	chr10:49296342-49296363 chr10:49296347-49296365
27	CTCF	chr10:49294209-49294327	Lung_OC	lung:	n/a	n/a
28	CTCF	chr10:49307703-49307753	GM13976	blood:	n/a	n/a
29	CTCF	chr10:49333669-49334054	A549	lung:	n/a	n/a
30	CTCF	chr10:49272369-49272660	Pancreas_OC	pancreas:	n/a	n/a
31	CTCF	chr10:49321575-49321626	Kidney_OC	kidney:	n/a	n/a
32	CTCF	chr10:49279349-49279447	Lung_OC	lung:	n/a	n/a
33	CTCF	chr10:49242573-49242599	GM13976	blood:	n/a	n/a
34	CTCF	chr10:49214010-49214069	Kidney_OC	kidney:	n/a	n/a
35	CTCF	chr10:49348602-49348663	Kidney_OC	kidney:	n/a	n/a
36	CTCF	chr10:49301519-49301570	Pancreas_OC	pancreas:	n/a	n/a
37	CTCF	chr10:49359722-49359773	LNCaP	prostate:	n/a	n/a
38	CTCF	chr10:49307500-49307547	GM10266	blood:	n/a	n/a
39	CTCF	chr10:49333540-49333690	AG04450	lung:	n/a	n/a
40	CTCF	chr10:49347896-49347953	GM10266	blood:	n/a	n/a
41	CTCF	chr10:49304272-49304410	Lung_OC	lung:	n/a	n/a
42	CTCF	chr10:49329201-49329206	LNCaP	prostate:	n/a	n/a
43	CTCF	chr10:49296534-49296574	GM20000	blood:	n/a	n/a
44	CTCF	chr10:49353698-49353773	Lung_OC	lung:	n/a	n/a
45	CTCF	chr10:49333808-49333912	GM10248	blood:	n/a	n/a
46	CTCF	chr10:49258572-49258622	GM10266	blood:	n/a	n/a
47	CTCF	chr10:49296197-49296469	K562	blood:	n/a	chr10:49296342-49296363 chr10:49296347-49296365
48	CTCF	chr10:49296165-49296517	A549	lung:	n/a	chr10:49296342-49296363 chr10:49296347-49296365
49	CTCF	chr10:49259538-49259816	A549	lung:	n/a	n/a
50	CTCF	chr10:49296326-49296382	GM12878	blood:	n/a	chr10:49296342-49296363 chr10:49296347-49296365

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:49348564-49348614	Jurkat	blood:	n/a
2	chr10:49218579-49218629	IMR90	lung:	fetal
3	chr10:49218579-49218629	PFSK-1	brain:	n/a
4	chr10:49205543-49205593	HEEpiC	esophagus:	n/a
5	chr10:49205543-49205593	H1-hESC	embryonic stem cell:	embryo
6	chr10:49205543-49205593	ECC-1	luminal epithelium:	n/a
7	chr10:49348564-49348614	K562	blood:	n/a
8	chr10:49348564-49348614	PrEC	prostate:	n/a
9	chr10:49348564-49348614	NB4	blood:	n/a
10	chr10:49205543-49205593	K562	blood:	n/a
11	chr10:49348564-49348614	MCF-7	breast:	n/a
12	chr10:49348564-49348614	HRCEpiC	kidney:	n/a
13	chr10:49205543-49205593	SKMC	muscle:	n/a
14	chr10:49218579-49218629	NHBE	bronchial:	n/a
15	chr10:49205543-49205593	GM12878	blood:	n/a
16	chr10:49218579-49218629	HMEC	breast:	n/a
17	chr10:49205543-49205593	RPTEC	kidney:	n/a
18	chr10:49348564-49348614	HL-60	blood:	n/a
19	chr10:49205543-49205593	NB4	blood:	n/a
20	chr10:49205543-49205593	Hela-S3	cervix:	n/a
21	chr10:49218579-49218629	HepG2	liver:	n/a
22	chr10:49205543-49205593	HCT-116	colon:	n/a
23	chr10:49348564-49348614	NT2-D1	testis:	n/a
24	chr10:49205543-49205593	NH-A	brain:	n/a
25	chr10:49218579-49218629	MCF10A-Er-Src	breast:	n/a
26	chr10:49348564-49348614	SK-N-MC	brain:	n/a
27	chr10:49348564-49348614	U87	brain:	n/a
28	chr10:49205543-49205593	MCF10A-Er-Src	breast:	n/a
29	chr10:49218579-49218629	ECC-1	luminal epithelium:	n/a
30	chr10:49348564-49348614	LNCaP	prostate:	n/a
31	chr10:49205543-49205593	HCF	heart:	n/a
32	chr10:49348564-49348614	HCPEpiC	choroid plexus:	n/a
33	chr10:49218579-49218629	BE2_C	brain:	n/a
34	chr10:49348564-49348614	SK-N-SH_RA	brain:	n/a
35	chr10:49348564-49348614	H1-hESC	embryonic stem cell:	embryo
36	chr10:49218579-49218629	AoSMC	blood vessel:	n/a
37	chr10:49218579-49218629	A549	lung:	n/a
38	chr10:49205543-49205593	U87	brain:	n/a
39	chr10:49205543-49205593	HCPEpiC	choroid plexus:	n/a
40	chr10:49348564-49348614	Caco-2	colon:	n/a
41	chr10:49205543-49205593	GM12891	blood:	n/a
42	chr10:49218579-49218629	ovcar-3	ovarian:	n/a
43	chr10:49218579-49218629	K562	blood:	n/a
44	chr10:49205543-49205593	PrEC	prostate:	n/a
45	chr10:49218579-49218629	AG04450	lung:	fetal
46	chr10:49348564-49348614	BJ	skin:	n/a
47	chr10:49348564-49348614	SKMC	muscle:	n/a
48	chr10:49205543-49205593	NHBE	bronchial:	n/a
49	chr10:49218579-49218629	AG04449	skin:	fetal
50	chr10:49205543-49205593	IMR90	lung:	fetal

No data

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPN20C-3	chr10:49346057-49347865	ucscGeneNc_uc001jgw_2
2	lnc-PTPN20C-3	chr10:49357092-49357245	ucscGeneNc_uc001jgw_2
3	lnc-FAM25C-1	chr10:49205711-49205776	NONHSAT013257
4	lnc-MAPK8-5	chr10:49316927-49317254	expReg_chr10_2514_+
5	lnc-MAPK8-6	chr10:49313937-49314716	expReg_chr10_2502_+
6	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
PTPN20CP	TF binding region
CTGLF12P	TF binding region
FAM25C	CpG island
BMS1P7	CpG island
RNA5SP315	CpG island
PTPN20CP	CpG island
CTGLF12P	CpG island

Extended variants
information (count: 422 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:422 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7893532	chr10:49201820-49201821	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs369588581	chr10:49201844-49201845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7895826	chr10:49201871-49201872	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs7914526	chr10:49201898-49201899	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs141297937	chr10:49201913-49201914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544033198	chr10:49201938-49201939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs587699864	chr10:49201953-49201954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374067963	chr10:49201954-49201955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs3013936	chr10:49201964-49201965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532470602	chr10:49201967-49201968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144845065	chr10:49201985-49201986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531849873	chr10:49201996-49201997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10857615	chr10:49202016-49202017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550046325	chr10:49202034-49202035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9418916	chr10:49202052-49202053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568535408	chr10:49202063-49202064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529296811	chr10:49202072-49202073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs3013935	chr10:49202074-49202075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566047592	chr10:49202081-49202082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539715875	chr10:49202118-49202119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9418918	chr10:49202145-49202146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557931780	chr10:49202159-49202160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9418919	chr10:49202205-49202206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569875371	chr10:49202223-49202224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537643170	chr10:49202237-49202238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577913767	chr10:49202240-49202241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573659699	chr10:49202241-49202242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540707806	chr10:49202244-49202245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11316765	chr10:49202247-49202248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552973074	chr10:49202283-49202284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539808037	chr10:49202301-49202302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs3013934	chr10:49202323-49202324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs3013933	chr10:49202324-49202325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374273938	chr10:49202346-49202347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563563035	chr10:49202350-49202351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575393039	chr10:49202353-49202354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149284806	chr10:49202354-49202355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562075197	chr10:49202365-49202366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529353998	chr10:49202480-49202481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547494567	chr10:49202493-49202494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559275470	chr10:49202548-49202549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533455541	chr10:49202592-49202593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551699928	chr10:49202605-49202606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570012042	chr10:49202607-49202608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537275589	chr10:49202628-49202629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199921377	chr10:49202636-49202637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144292368	chr10:49202642-49202643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567268591	chr10:49202701-49202702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76099054	chr10:49202772-49202773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553009770	chr10:49202775-49202776	Weak transcription	n/a	n/a	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49200200-49202000	Enhancers	HMEC	breast
2	chr10:49201000-49202000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr10:49201000-49205600	Weak transcription	NHEK	skin
4	chr10:49201600-49202200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr10:49202000-49202200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr10:49205600-49206000	Enhancers	NHEK	skin
7	chr10:49310400-49310800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr10:49310400-49310800	Enhancers	Fetal Thymus	thymus
9	chr10:49310400-49311200	Enhancers	Dnd41	blood
10	chr10:49318600-49319000	Enhancers	Dnd41	blood
11	chr10:49356400-49357000	Enhancers	Dnd41	blood
12	chr10:49361000-49361200	Enhancers	Fetal Thymus	thymus
13	chr10:49361200-49362200	Weak transcription	Fetal Thymus	thymus
14	chr10:49362200-49363000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr10:49362200-49363200	Enhancers	Fetal Thymus	thymus
16	chr10:49362800-49363600	Enhancers	Dnd41	blood

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