Variant report

Variant	esv3441992
Chromosome Location	chr10:37624992-37659509
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

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	chr10:37648358-37648872	K562	blood:	n/a	n/a
13	KAP1	chr10:37642860-37643213	U2OS	brain:	n/a	n/a
14	KAP1	chr10:37642774-37643204	HEK293	kidney:	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	chr10:37636519-37636834	HepG2	liver:	n/a	chr10:37636686-37636702 chr10:37636685-37636699 chr10:37636686-37636697 chr10:37636686-37636697 chr10:37636686-37636701
18	MAFK	chr10:37636606-37636857	HepG2	liver:	n/a	chr10:37636686-37636702 chr10:37636685-37636699 chr10:37636686-37636697 chr10:37636686-37636697 chr10:37636686-37636701
19	MAFK	chr10:37636070-37636388	HepG2	liver:	n/a	chr10:37636093-37636104 chr10:37636093-37636104
20	MAFK	chr10:37650918-37651174	HepG2	liver:	n/a	n/a
21	MAFK	chr10:37647256-37647574	HepG2	liver:	n/a	n/a
22	POLR2A	chr10:37639451-37639599	MCF-7	breast:	n/a	n/a
23	POLR2A	chr10:37639379-37639602	HepG2	liver:	n/a	n/a
24	POLR2A	chr10:37653710-37653842	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr10:37627728-37627836	GM12878	blood:	n/a	n/a
26	POLR2A	chr10:37634416-37634428	A549	lung:	n/a	n/a
27	POLR2A	chr10:37639390-37639607	K562	blood:	n/a	n/a
28	POLR2A	chr10:37639461-37639596	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr10:37632272-37632349	GM12878	blood:	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	chr10:37649464-37649664	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr10:37625351-37625551	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr10:37640261-37640461	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:37625532-37625582	HAEpiC	amniotic membrane:	n/a
2	chr10:37625532-37625582	K562	blood:	n/a
3	chr10:37625532-37625582	SK-N-SH_RA	brain:	n/a
4	chr10:37625532-37625582	ProgFib	skin:	n/a
5	chr10:37625532-37625582	NHBE	bronchial:	n/a
6	chr10:37625532-37625582	Hepatocyte	liver:	n/a
7	chr10:37625532-37625582	HL-60	blood:	n/a
8	chr10:37625532-37625582	NH-A	brain:	n/a
9	chr10:37625532-37625582	NT2-D1	testis:	n/a
10	chr10:37625532-37625582	AG04449	skin:	fetal
11	chr10:37625532-37625582	HCF	heart:	n/a
12	chr10:37625532-37625582	U87	brain:	n/a
13	chr10:37625532-37625582	Jurkat	blood:	n/a
14	chr10:37625532-37625582	HMEC	breast:	n/a
15	chr10:37625532-37625582	A549	lung:	n/a
16	chr10:37625532-37625582	H1-hESC	embryonic stem cell:	embryo
17	chr10:37625532-37625582	LNCaP	prostate:	n/a
18	chr10:37625532-37625582	PANC-1	pancreas:	n/a
19	chr10:37625532-37625582	NHDF-neo	bronchial:	n/a
20	chr10:37625532-37625582	AoSMC	blood vessel:	n/a
21	chr10:37625532-37625582	HepG2	liver:	n/a
22	chr10:37625532-37625582	ovcar-3	ovarian:	n/a
23	chr10:37625532-37625582	MCF-7	breast:	n/a
24	chr10:37625532-37625582	GM06990	blood:	n/a
25	chr10:37625532-37625582	ECC-1	luminal epithelium:	n/a
26	chr10:37625532-37625582	SK-N-SH	brain:	n/a
27	chr10:37625532-37625582	AG09319	gingival:	n/a
28	chr10:37625532-37625582	GM12878	blood:	n/a
29	chr10:37625532-37625582	HRPEpiC	eye:	n/a
30	chr10:37625532-37625582	BJ	skin:	n/a
31	chr10:37625532-37625582	HRCEpiC	kidney:	n/a
32	chr10:37625532-37625582	HPAEpiC	pulmonary alveolar:	n/a
33	chr10:37625532-37625582	SK-N-MC	brain:	n/a
34	chr10:37625532-37625582	GM19239	blood:	n/a
35	chr10:37625532-37625582	SAEC	small airway:	n/a
36	chr10:37625532-37625582	MCF10A-Er-Src	breast:	n/a
37	chr10:37625532-37625582	HCT-116	colon:	n/a
38	chr10:37625532-37625582	IMR90	lung:	fetal
39	chr10:37625532-37625582	Caco-2	colon:	n/a
40	chr10:37625532-37625582	CMK	blood:	n/a
41	chr10:37625532-37625582	PFSK-1	brain:	n/a
42	chr10:37625532-37625582	HEEpiC	esophagus:	n/a
43	chr10:37625532-37625582	GM12891	blood:	n/a
44	chr10:37625532-37625582	HNPCEpiC	eye:	n/a
45	chr10:37625532-37625582	SKMC	muscle:	n/a
46	chr10:37625532-37625582	RPTEC	kidney:	n/a
47	chr10:37625532-37625582	HUVEC	blood vessel:	n/a
48	chr10:37625532-37625582	GM12892	blood:	n/a
49	chr10:37625532-37625582	HCPEpiC	choroid plexus:	n/a
50	chr10:37625532-37625582	PrEC	prostate:	n/a

No data

(count:3 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 123 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73247479	chr10:37625355-37625356	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs150596559	chr10:37625396-37625397	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs139640367	chr10:37625489-37625490	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs375322275	chr10:37625533-37625534	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs540186448	chr10:37625534-37625535	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs547845185	chr10:37625548-37625549	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs138784505	chr10:37631181-37631182	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs189999906	chr10:37631201-37631202	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs77202411	chr10:37631207-37631208	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs545657226	chr10:37631219-37631220	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs182250461	chr10:37631305-37631306	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs548057155	chr10:37631318-37631319	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs572355127	chr10:37634424-37634425	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs187722270	chr10:37635699-37635700	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs192646477	chr10:37635702-37635703	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs558525139	chr10:37635704-37635705	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs572314434	chr10:37635723-37635724	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs540231227	chr10:37635740-37635741	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs560558089	chr10:37635790-37635791	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs12766568	chr10:37635812-37635813	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs542751960	chr10:37635815-37635816	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs562739670	chr10:37635818-37635819	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs7091441	chr10:37635822-37635823	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs139387970	chr10:37635823-37635824	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs201790587	chr10:37635862-37635863	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs112696705	chr10:37635899-37635900	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs61859343	chr10:37636090-37636091	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs184204420	chr10:37636143-37636144	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs372614521	chr10:37636168-37636169	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs549951629	chr10:37636208-37636209	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs545658668	chr10:37636217-37636218	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs569773958	chr10:37636251-37636252	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs189123270	chr10:37636278-37636279	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs148653311	chr10:37636303-37636304	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs560392748	chr10:37636325-37636326	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs562481293	chr10:37636345-37636346	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs567306588	chr10:37636351-37636352	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs193017825	chr10:37636374-37636375	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs184341081	chr10:37636377-37636378	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs574960227	chr10:37636385-37636386	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs573743154	chr10:37636537-37636538	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs542615052	chr10:37636547-37636548	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs188922602	chr10:37636550-37636551	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs78670932	chr10:37636551-37636552	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs545241409	chr10:37636554-37636555	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs536137328	chr10:37636558-37636559	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs6482031	chr10:37636636-37636637	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs548111258	chr10:37636666-37636667	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs560866969	chr10:37636671-37636672	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs529670153	chr10:37636705-37636706	Inactive region	TF binding region	1 gene(s)	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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