Variant report

Variant	nsv982330
Chromosome Location	chr9:103493420-103495969
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr9:103494065-103494263	K562	blood:	n/a	n/a
2	MYC	chr9:103494065-103494072	MCF-7	breast:	n/a	n/a
3	MYC	chr9:103494104-103494109	MCF-7	breast:	n/a	n/a
4	MYC	chr9:103493955-103494033	MCF-7	breast:	n/a	n/a
5	MYC	chr9:103493919-103494042	MCF-7	breast:	n/a	n/a
6	POLR2A	chr9:103493952-103494335	MCF-7	breast:	n/a	n/a
7	POLR2A	chr9:103495078-103495115	ProgFib	skin:	n/a	n/a
8	POLR2A	chr9:103493509-103493517	MCF-7	breast:	n/a	n/a
9	POLR2A	chr9:103493625-103493714	MCF-7	breast:	n/a	n/a
10	POLR2A	chr9:103493720-103493924	MCF-7	breast:	n/a	n/a
11	POLR2A	chr9:103494118-103494189	A549	lung:	n/a	n/a
12	POLR2A	chr9:103494062-103494224	A549	lung:	n/a	n/a
13	POLR2A	chr9:103493943-103494063	Gliobla	brain:	n/a	n/a
14	POLR2A	chr9:103493960-103494284	GM12878	blood:	n/a	n/a
15	POLR2A	chr9:103493523-103493616	MCF-7	breast:	n/a	n/a
16	POLR2A	chr9:103494441-103494474	Gliobla	brain:	n/a	n/a
17	POLR2A	chr9:103493449-103493654	MCF-7	breast:	n/a	n/a
18	POLR2A	chr9:103494082-103494231	GM12878	blood:	n/a	n/a
19	POLR2A	chr9:103493690-103493701	MCF-7	breast:	n/a	n/a
20	POLR2A	chr9:103494025-103494251	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr9:103494396-103494429	Gliobla	brain:	n/a	n/a
22	POLR2A	chr9:103494274-103494293	Gliobla	brain:	n/a	n/a
23	POLR2A	chr9:103493898-103494192	A549	lung:	n/a	n/a
24	POLR2A	chr9:103493946-103493950	MCF-7	breast:	n/a	n/a
25	POLR2A	chr9:103493715-103494198	MCF-7	breast:	n/a	n/a
26	POLR2A	chr9:103494087-103494199	ProgFib	skin:	n/a	n/a
27	POLR2A	chr9:103493486-103493492	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:103493536-103493586	SK-N-SH	brain:	n/a
2	chr9:103493536-103493586	K562	blood:	n/a
3	chr9:103493536-103493586	H1-hESC	embryonic stem cell:	embryo
4	chr9:103493536-103493586	HCF	heart:	n/a
5	chr9:103493536-103493586	HIPEpiC	eye:	n/a
6	chr9:103493536-103493586	HEK293	kidney:	embryo
7	chr9:103493536-103493586	U87	brain:	n/a
8	chr9:103493536-103493586	HRCEpiC	kidney:	n/a
9	chr9:103493536-103493586	NHDF-neo	bronchial:	n/a
10	chr9:103493536-103493586	PFSK-1	brain:	n/a
11	chr9:103493536-103493586	HepG2	liver:	n/a
12	chr9:103493536-103493586	BJ	skin:	n/a
13	chr9:103493536-103493586	ProgFib	skin:	n/a
14	chr9:103493536-103493586	GM12892	blood:	n/a
15	chr9:103493536-103493586	BE2_C	brain:	n/a
16	chr9:103493536-103493586	HUVEC	blood vessel:	n/a
17	chr9:103493536-103493586	HRE	kidney:	n/a
18	chr9:103493536-103493586	NB4	blood:	n/a
19	chr9:103493536-103493586	HAEpiC	amniotic membrane:	n/a
20	chr9:103493536-103493586	HEEpiC	esophagus:	n/a
21	chr9:103493536-103493586	GM12878	blood:	n/a
22	chr9:103493536-103493586	HRPEpiC	eye:	n/a
23	chr9:103493536-103493586	NH-A	brain:	n/a
24	chr9:103493536-103493586	HNPCEpiC	eye:	n/a
25	chr9:103493536-103493586	CMK	blood:	n/a
26	chr9:103493536-103493586	IMR90	lung:	fetal
27	chr9:103493536-103493586	GM19239	blood:	n/a
28	chr9:103493536-103493586	MCF10A-Er-Src	breast:	n/a
29	chr9:103493536-103493586	ovcar-3	ovarian:	n/a
30	chr9:103493536-103493586	RPTEC	kidney:	n/a
31	chr9:103493536-103493586	ECC-1	luminal epithelium:	n/a
32	chr9:103493536-103493586	PrEC	prostate:	n/a
33	chr9:103493536-103493586	AG04449	skin:	fetal
34	chr9:103493536-103493586	SK-N-MC	brain:	n/a
35	chr9:103493536-103493586	Hepatocyte	liver:	n/a
36	chr9:103493536-103493586	AG04450	lung:	fetal
37	chr9:103493536-103493586	MCF-7	breast:	n/a
38	chr9:103493536-103493586	SK-N-SH_RA	brain:	n/a
39	chr9:103493536-103493586	Jurkat	blood:	n/a
40	chr9:103493536-103493586	AG09319	gingival:	n/a
41	chr9:103493536-103493586	GM06990	blood:	n/a
42	chr9:103493536-103493586	HCM	heart:	n/a
43	chr9:103493536-103493586	Caco-2	colon:	n/a
44	chr9:103493536-103493586	NHBE	bronchial:	n/a
45	chr9:103493536-103493586	HCT-116	colon:	n/a
46	chr9:103493536-103493586	HCPEpiC	choroid plexus:	n/a
47	chr9:103493536-103493586	HL-60	blood:	n/a
48	chr9:103493536-103493586	SAEC	small airway:	n/a
49	chr9:103493536-103493586	LNCaP	prostate:	n/a
50	chr9:103493536-103493586	AG10803	skin:	n/a

No data

Variant related genes	Relation type
ENSG00000237999	TF binding region
ENSG00000237999	CpG island

Extended variants
information (count: 122 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554182174	chr9:103493429-103493430	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183065022	chr9:103493432-103493433	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79790882	chr9:103493441-103493442	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557255916	chr9:103493457-103493458	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs576039896	chr9:103493459-103493460	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs10989228	chr9:103493466-103493467	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs543318713	chr9:103493489-103493490	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs573415786	chr9:103493492-103493493	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs370492907	chr9:103493507-103493508	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs114513214	chr9:103493529-103493530	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562211371	chr9:103493536-103493537	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562093314	chr9:103493548-103493549	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73497677	chr9:103493558-103493559	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs374520130	chr9:103493578-103493579	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115581693	chr9:103493599-103493600	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563314010	chr9:103493602-103493603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs532341626	chr9:103493617-103493618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs113230480	chr9:103493635-103493636	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs551817139	chr9:103493642-103493643	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs77172789	chr9:103493663-103493664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs534457285	chr9:103493676-103493677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs191276822	chr9:103493694-103493695	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs568080069	chr9:103493705-103493706	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs4076912	chr9:103493751-103493752	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs557654445	chr9:103493776-103493777	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs577319145	chr9:103493782-103493783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs540030273	chr9:103493784-103493785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs12339294	chr9:103493796-103493797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs573353926	chr9:103493820-103493821	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs542378680	chr9:103493821-103493822	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs555443665	chr9:103493832-103493833	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs184102624	chr9:103493864-103493865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs543308846	chr9:103493884-103493885	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs563612324	chr9:103493897-103493898	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs373827836	chr9:103493912-103493913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs532342728	chr9:103493935-103493936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs115515783	chr9:103493952-103493953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs13302189	chr9:103493958-103493959	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs528156340	chr9:103493966-103493967	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs547895752	chr9:103493978-103493979	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs189510395	chr9:103493979-103493980	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs192845324	chr9:103494056-103494057	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs550951125	chr9:103494057-103494058	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs74186820	chr9:103494086-103494087	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs185260623	chr9:103494099-103494100	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs553589841	chr9:103494101-103494102	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs4742792	chr9:103494116-103494117	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs535926951	chr9:103494140-103494141	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs555835543	chr9:103494142-103494143	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs575510891	chr9:103494167-103494168	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:103493400-103493600	Enhancers	Esophagus	oesophagus
2	chr9:103493400-103494200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:103493600-103494200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:103494200-103501600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links