Variant report

Variant	nsv971877
Chromosome Location	chr10:37615294-37637158
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:37620288-37620393	GM20000	blood:	n/a	n/a
2	CTCF	chr10:37626500-37626650	NB4	blood:	n/a	n/a
3	CUX1	chr10:37622046-37622082	GM12878	blood:	n/a	n/a
4	MAFF	chr10:37636535-37636790	HepG2	liver:	n/a	n/a
5	MAFK	chr10:37636519-37636834	HepG2	liver:	n/a	chr10:37636686-37636702 chr10:37636685-37636699 chr10:37636686-37636697 chr10:37636686-37636697 chr10:37636686-37636701
6	MAFK	chr10:37620787-37621039	HepG2	liver:	n/a	n/a
7	MAFK	chr10:37615452-37615613	HepG2	liver:	n/a	n/a
8	MAFK	chr10:37636606-37636857	HepG2	liver:	n/a	chr10:37636686-37636702 chr10:37636685-37636699 chr10:37636686-37636697 chr10:37636686-37636697 chr10:37636686-37636701
9	MAFK	chr10:37620800-37620967	HepG2	liver:	n/a	n/a
10	MAFK	chr10:37636070-37636388	HepG2	liver:	n/a	chr10:37636093-37636104 chr10:37636093-37636104
11	POLR2A	chr10:37623292-37623418	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr10:37634416-37634428	A549	lung:	n/a	n/a
13	POLR2A	chr10:37627728-37627836	GM12878	blood:	n/a	n/a
14	POLR2A	chr10:37632272-37632349	GM12878	blood:	n/a	n/a
15	REST	chr10:37623287-37623425	H1-hESC	embryonic stem cell:	n/a	n/a
16	RFX5	chr10:37629902-37629961	K562	blood:	n/a	n/a
17	RXRA	chr10:37623280-37623431	HepG2	liver:	n/a	n/a
18	SPI1	chr10:37619023-37619300	HL-60	blood:	n/a	n/a
19	SPI1	chr10:37619003-37619186	GM12891	blood:	n/a	n/a
20	SPI1	chr10:37619003-37619264	HL-60	blood:	n/a	n/a
21	STAT3	chr10:37625351-37625551	MCF10A-Er-Src	breast:	n/a	n/a
22	ZBTB33	chr10:37623264-37623446	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:37625532-37625582	NHDF-neo	bronchial:	n/a
2	chr10:37625532-37625582	NH-A	brain:	n/a
3	chr10:37625532-37625582	AG04450	lung:	fetal
4	chr10:37625532-37625582	ProgFib	skin:	n/a
5	chr10:37625532-37625582	HEEpiC	esophagus:	n/a
6	chr10:37625532-37625582	HNPCEpiC	eye:	n/a
7	chr10:37625532-37625582	Hepatocyte	liver:	n/a
8	chr10:37625532-37625582	IMR90	lung:	fetal
9	chr10:37625532-37625582	SK-N-SH	brain:	n/a
10	chr10:37625532-37625582	HIPEpiC	eye:	n/a
11	chr10:37625532-37625582	RPTEC	kidney:	n/a
12	chr10:37625532-37625582	SK-N-MC	brain:	n/a
13	chr10:37625532-37625582	H1-hESC	embryonic stem cell:	embryo
14	chr10:37625532-37625582	AG10803	skin:	n/a
15	chr10:37625532-37625582	GM12892	blood:	n/a
16	chr10:37625532-37625582	ECC-1	luminal epithelium:	n/a
17	chr10:37625532-37625582	BJ	skin:	n/a
18	chr10:37625532-37625582	HCT-116	colon:	n/a
19	chr10:37625532-37625582	HEK293	kidney:	embryo
20	chr10:37625532-37625582	MCF10A-Er-Src	breast:	n/a
21	chr10:37625532-37625582	HepG2	liver:	n/a
22	chr10:37625532-37625582	HRE	kidney:	n/a
23	chr10:37625532-37625582	HCM	heart:	n/a
24	chr10:37625532-37625582	NB4	blood:	n/a
25	chr10:37625532-37625582	A549	lung:	n/a
26	chr10:37625532-37625582	K562	blood:	n/a
27	chr10:37625532-37625582	HRCEpiC	kidney:	n/a
28	chr10:37625532-37625582	HPAEpiC	pulmonary alveolar:	n/a
29	chr10:37625532-37625582	PANC-1	pancreas:	n/a
30	chr10:37625532-37625582	GM06990	blood:	n/a
31	chr10:37625532-37625582	U87	brain:	n/a
32	chr10:37625532-37625582	HUVEC	blood vessel:	n/a
33	chr10:37625532-37625582	HAEpiC	amniotic membrane:	n/a
34	chr10:37625532-37625582	AoSMC	blood vessel:	n/a
35	chr10:37625532-37625582	HL-60	blood:	n/a
36	chr10:37625532-37625582	T-47D	breast:	n/a
37	chr10:37625532-37625582	GM19239	blood:	n/a
38	chr10:37625532-37625582	NT2-D1	testis:	n/a
39	chr10:37625532-37625582	SKMC	muscle:	n/a
40	chr10:37625532-37625582	ovcar-3	ovarian:	n/a
41	chr10:37625532-37625582	AG09319	gingival:	n/a
42	chr10:37625532-37625582	GM12891	blood:	n/a
43	chr10:37625532-37625582	AG09309	skin:	n/a
44	chr10:37625532-37625582	PFSK-1	brain:	n/a
45	chr10:37625532-37625582	HCPEpiC	choroid plexus:	n/a
46	chr10:37625532-37625582	Hela-S3	cervix:	n/a
47	chr10:37625532-37625582	CMK	blood:	n/a
48	chr10:37625532-37625582	HCF	heart:	n/a
49	chr10:37625532-37625582	SAEC	small airway:	n/a
50	chr10:37625532-37625582	Jurkat	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:37619963..37622933-chr10:37635085..37637978,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD30A-2	chr10:37635695-37635933	NONHSAT012772
2	lnc-ANKRD30A-2	chr10:37631052-37631341	NONHSAT012772

No data

Variant related genes	Relation type
TMEM161BP1	TF binding region
VN1R53P	TF binding region
TMEM161BP1	CpG island
VN1R53P	CpG island
ENSG00000236313	chromatin interactions

Extended variants
information (count: 175 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:175 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188591562	chr10:37619963-37619964	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs374569224	chr10:37619966-37619967	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs12248849	chr10:37619967-37619968	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs58057863	chr10:37619972-37619973	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs555491597	chr10:37619989-37619990	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs56689957	chr10:37619990-37619991	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs397965914	chr10:37619994-37619995	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567109109	chr10:37620010-37620011	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs551690358	chr10:37620011-37620012	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs181040865	chr10:37620052-37620053	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs369427075	chr10:37620073-37620074	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs71493770	chr10:37620076-37620077	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs139951935	chr10:37620087-37620088	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs553403663	chr10:37620090-37620091	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs1200860	chr10:37620101-37620102	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs77252958	chr10:37620117-37620118	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs115535015	chr10:37620131-37620132	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs577557687	chr10:37620161-37620162	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs190750006	chr10:37620192-37620193	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs544562082	chr10:37620414-37620415	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs558476407	chr10:37620434-37620435	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs577920470	chr10:37620440-37620441	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs182531970	chr10:37620441-37620442	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs559733990	chr10:37620442-37620443	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs528929956	chr10:37620445-37620446	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs542737961	chr10:37620457-37620458	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs562530306	chr10:37620473-37620474	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs531578229	chr10:37620487-37620488	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs61859341	chr10:37620504-37620505	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs571470055	chr10:37620514-37620515	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs377672774	chr10:37620541-37620542	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs527591576	chr10:37620543-37620544	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs77321765	chr10:37620595-37620596	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs566893531	chr10:37620604-37620605	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs187104364	chr10:37620626-37620627	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs555864171	chr10:37620633-37620634	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs573796887	chr10:37620655-37620656	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs569342279	chr10:37620664-37620665	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs192168718	chr10:37620692-37620693	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs35146051	chr10:37620701-37620702	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs71531288	chr10:37620703-37620704	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs397844741	chr10:37620710-37620711	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs145418406	chr10:37620720-37620721	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs533730212	chr10:37620753-37620754	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs147670485	chr10:37620755-37620756	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs540546700	chr10:37620789-37620790	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs140666754	chr10:37620819-37620820	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs183088683	chr10:37620907-37620908	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs187382135	chr10:37620945-37620946	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs190247587	chr10:37620988-37620989	Inactive region	Chromatin interactive 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:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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