Variant report

Variant	esv3321462
Chromosome Location	chr10:37625633-37660312
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:37645159-37645230	HepG2	liver:	n/a	n/a
2	CEBPB	chr10:37651573-37651766	HepG2	liver:	n/a	chr10:37651665-37651676
3	CTCF	chr10:37626500-37626650	NB4	blood:	n/a	n/a
4	CTCF	chr10:37658773-37658846	Kidney_OC	kidney:	n/a	n/a
5	CTCF	chr10:37651360-37651510	HepG2	liver:	n/a	n/a
6	EP300	chr10:37647683-37647692	K562	blood:	n/a	n/a
7	EP300	chr10:37642984-37643026	K562	blood:	n/a	n/a
8	FOXA2	chr10:37639293-37639671	A549	lung:	n/a	n/a
9	GATA3	chr10:37640197-37640397	SH-SY5Y	brain:	n/a	n/a
10	IRF1	chr10:37646386-37646392	K562	blood:	n/a	n/a
11	JUN	chr10:37637957-37638224	K562	blood:	n/a	n/a
12	KAP1	chr10:37642860-37643213	U2OS	brain:	n/a	n/a
13	KAP1	chr10:37642774-37643204	HEK293	kidney:	n/a	n/a
14	KAP1	chr10:37648358-37648872	K562	blood:	n/a	n/a
15	MAFF	chr10:37650966-37651162	HepG2	liver:	n/a	n/a
16	MAFF	chr10:37636535-37636790	HepG2	liver:	n/a	n/a
17	MAFK	chr10:37636070-37636388	HepG2	liver:	n/a	chr10:37636093-37636104 chr10:37636093-37636104
18	MAFK	chr10:37650918-37651174	HepG2	liver:	n/a	n/a
19	MAFK	chr10:37647256-37647574	HepG2	liver:	n/a	n/a
20	MAFK	chr10:37636606-37636857	HepG2	liver:	n/a	chr10:37636686-37636702 chr10:37636685-37636699 chr10:37636686-37636697 chr10:37636686-37636697 chr10:37636686-37636701
21	MAFK	chr10:37636519-37636834	HepG2	liver:	n/a	chr10:37636686-37636702 chr10:37636685-37636699 chr10:37636686-37636697 chr10:37636686-37636697 chr10:37636686-37636701
22	POLR2A	chr10:37639461-37639596	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr10:37639390-37639607	K562	blood:	n/a	n/a
24	POLR2A	chr10:37627728-37627836	GM12878	blood:	n/a	n/a
25	POLR2A	chr10:37639379-37639602	HepG2	liver:	n/a	n/a
26	POLR2A	chr10:37632272-37632349	GM12878	blood:	n/a	n/a
27	POLR2A	chr10:37653710-37653842	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr10:37639451-37639599	MCF-7	breast:	n/a	n/a
29	POLR2A	chr10:37634416-37634428	A549	lung:	n/a	n/a
30	RFX5	chr10:37629902-37629961	K562	blood:	n/a	n/a
31	SETDB1	chr10:37642803-37643363	U2OS	brain:	n/a	n/a
32	STAT3	chr10:37640261-37640461	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr10:37649464-37649664	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD30A-10	chr10:37637544-37638500	NONHSAT012773
2	lnc-ANKRD30A-2	chr10:37635695-37635933	NONHSAT012772
3	lnc-ANKRD30A-2	chr10:37631052-37631341	NONHSAT012772

Variant related genes	Relation type
TMEM161BP1	TF binding region
VN1R53P	TF binding region

Extended variants
information (count: 117 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138784505	chr10:37631181-37631182	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs189999906	chr10:37631201-37631202	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs77202411	chr10:37631207-37631208	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs545657226	chr10:37631219-37631220	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs182250461	chr10:37631305-37631306	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs548057155	chr10:37631318-37631319	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs572355127	chr10:37634424-37634425	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs187722270	chr10:37635699-37635700	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs192646477	chr10:37635702-37635703	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs558525139	chr10:37635704-37635705	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs572314434	chr10:37635723-37635724	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs540231227	chr10:37635740-37635741	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs560558089	chr10:37635790-37635791	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs12766568	chr10:37635812-37635813	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs542751960	chr10:37635815-37635816	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs562739670	chr10:37635818-37635819	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs7091441	chr10:37635822-37635823	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs139387970	chr10:37635823-37635824	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs201790587	chr10:37635862-37635863	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs112696705	chr10:37635899-37635900	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs61859343	chr10:37636090-37636091	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs184204420	chr10:37636143-37636144	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs372614521	chr10:37636168-37636169	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs549951629	chr10:37636208-37636209	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs545658668	chr10:37636217-37636218	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs569773958	chr10:37636251-37636252	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs189123270	chr10:37636278-37636279	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs148653311	chr10:37636303-37636304	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs560392748	chr10:37636325-37636326	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs562481293	chr10:37636345-37636346	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs567306588	chr10:37636351-37636352	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs193017825	chr10:37636374-37636375	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs184341081	chr10:37636377-37636378	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs574960227	chr10:37636385-37636386	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs573743154	chr10:37636537-37636538	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs542615052	chr10:37636547-37636548	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs188922602	chr10:37636550-37636551	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs78670932	chr10:37636551-37636552	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs545241409	chr10:37636554-37636555	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs536137328	chr10:37636558-37636559	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs6482031	chr10:37636636-37636637	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs548111258	chr10:37636666-37636667	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs560866969	chr10:37636671-37636672	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs529670153	chr10:37636705-37636706	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs371070378	chr10:37636763-37636764	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs557423963	chr10:37636810-37636811	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs17652673	chr10:37637545-37637546	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs546229286	chr10:37637583-37637584	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs74694829	chr10:37637607-37637608	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs561528077	chr10:37637608-37637609	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

Disease	PMID	Source
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Bethlem myopathy	20302629	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hepatocellular carcinoma	16785998	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:37640800-37641400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr10:37646600-37647000	ZNF genes & repeats	Pancreas	Pancrea

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