Variant report

Variant	nsv893175
Chromosome Location	chr9:43314875-43614545
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:651)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:651 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:43498011-43498345	K562	blood:	n/a	n/a
2	BACH1	chr9:43456004-43456520	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr9:43391498-43391789	GM12878	blood:	n/a	n/a
4	BATF	chr9:43418541-43419033	GM12878	blood:	n/a	chr9:43418699-43418707
5	BATF	chr9:43391601-43391805	GM12878	blood:	n/a	n/a
6	BATF	chr9:43397934-43398253	GM12878	blood:	n/a	n/a
7	BATF	chr9:43393230-43393466	GM12878	blood:	n/a	n/a
8	BATF	chr9:43392171-43392418	GM12878	blood:	n/a	n/a
9	BATF	chr9:43488473-43488768	GM12878	blood:	n/a	chr9:43488642-43488653
10	BATF	chr9:43374503-43374725	GM12878	blood:	n/a	n/a
11	BATF	chr9:43397875-43398296	GM12878	blood:	n/a	n/a
12	BATF	chr9:43529040-43529422	GM12878	blood:	n/a	n/a
13	BATF	chr9:43393256-43393475	GM12878	blood:	n/a	n/a
14	BATF	chr9:43369194-43369353	GM12878	blood:	n/a	n/a
15	BATF	chr9:43380741-43381310	GM12878	blood:	n/a	n/a
16	BATF	chr9:43446919-43447105	GM12878	blood:	n/a	n/a
17	BATF	chr9:43445858-43446598	GM12878	blood:	n/a	n/a
18	BATF	chr9:43380711-43381300	GM12878	blood:	n/a	n/a
19	BATF	chr9:43418592-43418991	GM12878	blood:	n/a	chr9:43418699-43418707
20	BATF	chr9:43445830-43446625	GM12878	blood:	n/a	n/a
21	BCL11A	chr9:43446717-43446938	GM12878	blood:	n/a	n/a
22	BCL11A	chr9:43418681-43418913	GM12878	blood:	n/a	n/a
23	BCL11A	chr9:43392237-43392400	GM12878	blood:	n/a	n/a
24	BCL11A	chr9:43415815-43416061	GM12878	blood:	n/a	n/a
25	BCL11A	chr9:43374467-43374767	GM12878	blood:	n/a	n/a
26	BCL11A	chr9:43432708-43432921	GM12878	blood:	n/a	n/a
27	BCL11A	chr9:43380710-43381295	GM12878	blood:	n/a	n/a
28	BCL11A	chr9:43445889-43446516	GM12878	blood:	n/a	n/a
29	BCL11A	chr9:43374447-43374685	GM12878	blood:	n/a	n/a
30	BCL11A	chr9:43368498-43368743	GM12878	blood:	n/a	n/a
31	BCL11A	chr9:43393221-43393463	GM12878	blood:	n/a	n/a
32	BCL11A	chr9:43397937-43398236	GM12878	blood:	n/a	n/a
33	BCL11A	chr9:43445830-43446611	GM12878	blood:	n/a	n/a
34	BCL11A	chr9:43380719-43381302	GM12878	blood:	n/a	n/a
35	BHLHE40	chr9:43505744-43505995	A549	lung:	n/a	n/a
36	CEBPB	chr9:43475824-43476024	A549	lung:	n/a	chr9:43475938-43475951 chr9:43475938-43475951
37	CEBPB	chr9:43475810-43476027	IMR90	lung:	n/a	chr9:43475938-43475951 chr9:43475938-43475951
38	CTCF	chr9:43392340-43392490	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chr9:43341397-43341590	GM19239	blood:	n/a	n/a
40	CTCF	chr9:43392340-43392490	GM12868	blood:	n/a	n/a
41	CTCF	chr9:43335241-43335681	A549	lung:	n/a	n/a
42	CTCF	chr9:43341363-43341597	K562	blood:	n/a	n/a
43	CTCF	chr9:43533606-43533628	GM13977	blood:	n/a	n/a
44	CTCF	chr9:43498091-43498269	Gliobla	brain:	n/a	chr9:43498167-43498185
45	CTCF	chr9:43497977-43498358	K562	blood:	n/a	chr9:43498167-43498185
46	CTCF	chr9:43498060-43498210	AoAF	blood vessel:	n/a	chr9:43498167-43498185
47	CTCF	chr9:43392380-43392530	GM12871	blood:	n/a	n/a
48	CTCF	chr9:43498060-43498210	HEEpiC	esophagus:	n/a	chr9:43498167-43498185
49	CTCF	chr9:43533584-43533658	LNCaP	prostate:	n/a	n/a
50	CTCF	chr9:43341391-43341582	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:43525948-43525998	HepG2	liver:	n/a
2	chr9:43525320-43525370	HAEpiC	amniotic membrane:	n/a
3	chr9:43525948-43525998	SKMC	muscle:	n/a
4	chr9:43525948-43525998	PANC-1	pancreas:	n/a
5	chr9:43525948-43525998	HIPEpiC	eye:	n/a
6	chr9:43525320-43525370	HRCEpiC	kidney:	n/a
7	chr9:43525320-43525370	BE2_C	brain:	n/a
8	chr9:43525948-43525998	BE2_C	brain:	n/a
9	chr9:43525320-43525370	HUVEC	blood vessel:	n/a
10	chr9:43525320-43525370	NB4	blood:	n/a
11	chr9:43525948-43525998	GM19239	blood:	n/a
12	chr9:43525320-43525370	GM19239	blood:	n/a
13	chr9:43525320-43525370	GM12891	blood:	n/a
14	chr9:43525948-43525998	BJ	skin:	n/a
15	chr9:43525320-43525370	A549	lung:	n/a
16	chr9:43525320-43525370	PrEC	prostate:	n/a
17	chr9:43525320-43525370	CMK	blood:	n/a
18	chr9:43525948-43525998	ProgFib	skin:	n/a
19	chr9:43525320-43525370	SAEC	small airway:	n/a
20	chr9:43525948-43525998	MCF10A-Er-Src	breast:	n/a
21	chr9:43525320-43525370	LNCaP	prostate:	n/a
22	chr9:43525948-43525998	AoSMC	blood vessel:	n/a
23	chr9:43525948-43525998	H1-hESC	embryonic stem cell:	embryo
24	chr9:43525948-43525998	HRE	kidney:	n/a
25	chr9:43525320-43525370	U87	brain:	n/a
26	chr9:43525320-43525370	SKMC	muscle:	n/a
27	chr9:43525948-43525998	AG09319	gingival:	n/a
28	chr9:43525948-43525998	SK-N-SH	brain:	n/a
29	chr9:43525948-43525998	NH-A	brain:	n/a
30	chr9:43525320-43525370	HCF	heart:	n/a
31	chr9:43525948-43525998	HCM	heart:	n/a
32	chr9:43525320-43525370	SK-N-SH	brain:	n/a
33	chr9:43525320-43525370	Hela-S3	cervix:	n/a
34	chr9:43525320-43525370	SK-N-SH_RA	brain:	n/a
35	chr9:43525948-43525998	AG10803	skin:	n/a
36	chr9:43525320-43525370	HEK293	kidney:	embryo
37	chr9:43525320-43525370	AG09309	skin:	n/a
38	chr9:43525320-43525370	HRPEpiC	eye:	n/a
39	chr9:43525948-43525998	HCPEpiC	choroid plexus:	n/a
40	chr9:43525320-43525370	HMEC	breast:	n/a
41	chr9:43525948-43525998	GM12892	blood:	n/a
42	chr9:43525320-43525370	Hepatocyte	liver:	n/a
43	chr9:43525948-43525998	SK-N-SH_RA	brain:	n/a
44	chr9:43525948-43525998	NHBE	bronchial:	n/a
45	chr9:43525320-43525370	HPAEpiC	pulmonary alveolar:	n/a
46	chr9:43525948-43525998	HAEpiC	amniotic membrane:	n/a
47	chr9:43525948-43525998	AG09309	skin:	n/a
48	chr9:43525948-43525998	RPTEC	kidney:	n/a
49	chr9:43525320-43525370	AG04450	lung:	fetal
50	chr9:43525320-43525370	HCM	heart:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNTNAP3B-6	chr9:43399987-43401315	NONHSAT131358
2	lnc-ANKRD20A3-11	chr9:43318619-43318952	NONHSAT131357
3	lnc-ANKRD20A3-11	chr9:43319264-43319576	NONHSAT131357
4	lnc-CNTNAP3B-5	chr9:43403148-43403646	NONHSAT131359

No data

Variant related genes	Relation type
ENSG00000239986	TF binding region
ENSG00000223512	TF binding region
ENSG00000269474	TF binding region
ATP5A1P5	TF binding region
ENSG00000224828	TF binding region
ENSG00000239986	CpG island
ENSG00000223512	CpG island
ENSG00000269474	CpG island
ATP5A1P5	CpG island
ENSG00000224828	CpG island

Extended variants
information (count: 2481 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:2481 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28375822	chr9:43314875-43314876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs587727958	chr9:43314889-43314890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183985261	chr9:43314894-43314895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35697289	chr9:43314969-43314970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs587661967	chr9:43314990-43314991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs587768075	chr9:43314993-43314994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs587641947	chr9:43315016-43315017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35212848	chr9:43315020-43315021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188960133	chr9:43315028-43315029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs587774060	chr9:43315044-43315045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs587608500	chr9:43315079-43315080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs587692404	chr9:43315090-43315091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs587748519	chr9:43315092-43315093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181639645	chr9:43315096-43315097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs587701460	chr9:43315101-43315102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115634005	chr9:43315103-43315104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs587642932	chr9:43315115-43315116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187298177	chr9:43315117-43315118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142126551	chr9:43315119-43315120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138700764	chr9:43315120-43315121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs587713061	chr9:43315127-43315128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192406016	chr9:43315128-43315129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112838958	chr9:43315140-43315141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2321339	chr9:43315169-43315170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs587667039	chr9:43315202-43315203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs587768360	chr9:43315207-43315208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs587645959	chr9:43315224-43315225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs587680783	chr9:43315257-43315258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2321340	chr9:43315277-43315278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs587613815	chr9:43315286-43315287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs587691465	chr9:43315292-43315293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145028572	chr9:43315307-43315308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs587630941	chr9:43315318-43315319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs587685802	chr9:43315319-43315320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs587769257	chr9:43315320-43315321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs587644756	chr9:43315324-43315325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182024896	chr9:43315328-43315329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2321342	chr9:43315332-43315333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs587757840	chr9:43315362-43315363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2321343	chr9:43315406-43315407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2321344	chr9:43315452-43315453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs587658436	chr9:43315454-43315455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs587707509	chr9:43315490-43315491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs587611981	chr9:43315498-43315499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs587641374	chr9:43315502-43315503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200718416	chr9:43315520-43315521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs587727464	chr9:43315528-43315529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185462400	chr9:43315529-43315530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2321345	chr9:43315546-43315547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs587678829	chr9:43315556-43315557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	20409316	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Lung adenocarcinoma	17086460	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Lung cancer	17086460	CNVD
Rhabdomyosarcoma	16790082	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:43314400-43315400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr9:43314800-43315800	Weak transcription	Fetal Brain Male	brain
3	chr9:43315400-43316000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr9:43315400-43316000	Enhancers	NHEK	skin
5	chr9:43316000-43316200	Enhancers	Fetal Brain Male	brain
6	chr9:43376600-43377400	Enhancers	Primary B cells from peripheral blood	blood
7	chr9:43396400-43399000	Enhancers	Primary B cells from peripheral blood	blood
8	chr9:43399000-43400000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr9:43400000-43400200	Enhancers	Primary B cells from peripheral blood	blood
10	chr9:43400600-43401000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:43400800-43401000	Enhancers	Osteobl	bone
12	chr9:43401000-43401600	Weak transcription	Osteobl	bone
13	chr9:43401600-43402400	Enhancers	Osteobl	bone
14	chr9:43433600-43433800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
15	chr9:43441400-43441800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr9:43445600-43446600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr9:43445600-43446600	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr9:43445800-43446200	Enhancers	Osteobl	bone
19	chr9:43445800-43446600	Enhancers	A549	lung
20	chr9:43446000-43446600	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr9:43450400-43450800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr9:43450800-43454000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr9:43451600-43452000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:43451600-43452600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr9:43451600-43453400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr9:43452400-43452600	Enhancers	H1 Cell Line	embryonic stem cell
27	chr9:43452600-43453000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr9:43452600-43453200	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr9:43452600-43454000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr9:43452600-43455400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr9:43452800-43453000	Enhancers	H9 Cell Line	embryonic stem cell
32	chr9:43453200-43453400	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr9:43453400-43453800	Active TSS	Monocytes-CD14+_RO01746	blood
34	chr9:43453400-43454200	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr9:43453400-43454400	Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr9:43453600-43454000	Active TSS	H9 Cell Line	embryonic stem cell
37	chr9:43453600-43454000	Active TSS	Fetal Brain Female	brain
38	chr9:43453600-43454200	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr9:43454000-43454400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr9:43454000-43456800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr9:43454200-43454400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr9:43454200-43454400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr9:43454400-43454600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
44	chr9:43454400-43454600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr9:43454400-43455400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr9:43454400-43455400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr9:43454400-43455400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr9:43454600-43456800	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr9:43455400-43455600	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr9:43455400-43455800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell

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