Variant report

Variant	nsv947606
Chromosome Location	chr10:37637158-37664124
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	chr10:37658773-37658846	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr10:37651360-37651510	HepG2	liver:	n/a	n/a
5	EP300	chr10:37642984-37643026	K562	blood:	n/a	n/a
6	EP300	chr10:37647683-37647692	K562	blood:	n/a	n/a
7	FOXA2	chr10:37639293-37639671	A549	lung:	n/a	n/a
8	GATA3	chr10:37640197-37640397	SH-SY5Y	brain:	n/a	n/a
9	IRF1	chr10:37646386-37646392	K562	blood:	n/a	n/a
10	JUN	chr10:37637957-37638224	K562	blood:	n/a	n/a
11	KAP1	chr10:37642860-37643213	U2OS	brain:	n/a	n/a
12	KAP1	chr10:37642774-37643204	HEK293	kidney:	n/a	n/a
13	KAP1	chr10:37648358-37648872	K562	blood:	n/a	n/a
14	MAFF	chr10:37650966-37651162	HepG2	liver:	n/a	n/a
15	MAFK	chr10:37650918-37651174	HepG2	liver:	n/a	n/a
16	MAFK	chr10:37647256-37647574	HepG2	liver:	n/a	n/a
17	MAX	chr10:37663336-37663580	NB4	blood:	n/a	chr10:37663432-37663443 chr10:37663433-37663443 chr10:37663433-37663442
18	MYC	chr10:37662979-37663016	MCF-7	breast:	n/a	n/a
19	POLR2A	chr10:37653710-37653842	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr10:37662967-37663067	MCF-7	breast:	n/a	n/a
21	POLR2A	chr10:37639451-37639599	MCF-7	breast:	n/a	n/a
22	POLR2A	chr10:37639379-37639602	HepG2	liver:	n/a	n/a
23	POLR2A	chr10:37639390-37639607	K562	blood:	n/a	n/a
24	POLR2A	chr10:37639461-37639596	Hela-S3	cervix:	n/a	n/a
25	SETDB1	chr10:37642803-37643363	U2OS	brain:	n/a	n/a
26	STAT3	chr10:37649464-37649664	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr10:37640261-37640461	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD30A-10	chr10:37637544-37638500	NONHSAT012773

Variant related genes	Relation type
VN1R53P	TF binding region

Extended variants
information (count: 82 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17652673	chr10:37637545-37637546	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs546229286	chr10:37637583-37637584	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs74694829	chr10:37637607-37637608	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs561528077	chr10:37637608-37637609	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs556139937	chr10:37637609-37637610	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs7905842	chr10:37637613-37637614	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs78999757	chr10:37637621-37637622	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs398013242	chr10:37637623-37637624	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs546784450	chr10:37637624-37637625	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs374899862	chr10:37637761-37637762	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs544437174	chr10:37637865-37637866	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs530433235	chr10:37637866-37637867	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs1926125	chr10:37637910-37637911	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs180982728	chr10:37637917-37637918	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs563301017	chr10:37637925-37637926	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs373857580	chr10:37637926-37637927	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs145815858	chr10:37637931-37637932	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs148979919	chr10:37637996-37637997	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs565639836	chr10:37638101-37638102	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs143731364	chr10:37638136-37638137	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs547997337	chr10:37638144-37638145	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs79953920	chr10:37638187-37638188	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs536974125	chr10:37638200-37638201	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs185810016	chr10:37638236-37638237	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs570070704	chr10:37638263-37638264	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs527607718	chr10:37638265-37638266	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs192313523	chr10:37638283-37638284	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs572460884	chr10:37638337-37638338	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs541604310	chr10:37638375-37638376	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs1926126	chr10:37638396-37638397	Inactive region	lncRNA	n/a	Overlapped CNVs	mRNA abundance
31	rs575166057	chr10:37638402-37638403	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs544163760	chr10:37638403-37638404	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs76019144	chr10:37638448-37638449	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs532083048	chr10:37638472-37638473	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs562095560	chr10:37640921-37640922	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs531023735	chr10:37640955-37640956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs550840759	chr10:37640960-37640961	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs570926037	chr10:37640999-37641000	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs186379061	chr10:37641008-37641009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs571653771	chr10:37641018-37641019	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs189357608	chr10:37641055-37641056	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs566796913	chr10:37641103-37641104	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs535774606	chr10:37641199-37641200	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs554930189	chr10:37641224-37641225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs6482032	chr10:37641231-37641232	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs537945869	chr10:37641250-37641251	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs557523377	chr10:37641274-37641275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs577682182	chr10:37641297-37641298	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs540022881	chr10:37641322-37641323	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs554034496	chr10:37641376-37641377	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

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

Chromatin state (count:3 , 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
3	chr10:37663200-37663600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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