Variant report

Variant	esv2761263
Chromosome Location	chr9:43437359-43800186
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	ARID3A	chr9:43498011-43498345	K562	blood:	n/a	n/a
2	BACH1	chr9:43686226-43686817	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr9:43456004-43456520	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr9:43446919-43447105	GM12878	blood:	n/a	n/a
5	BATF	chr9:43445858-43446598	GM12878	blood:	n/a	n/a
6	BATF	chr9:43445830-43446625	GM12878	blood:	n/a	n/a
7	BATF	chr9:43488473-43488768	GM12878	blood:	n/a	chr9:43488642-43488653
8	BATF	chr9:43714519-43714714	GM12878	blood:	n/a	n/a
9	BATF	chr9:43529040-43529422	GM12878	blood:	n/a	n/a
10	BATF	chr9:43653838-43653993	GM12878	blood:	n/a	n/a
11	BCL11A	chr9:43445889-43446516	GM12878	blood:	n/a	n/a
12	BCL11A	chr9:43446717-43446938	GM12878	blood:	n/a	n/a
13	BCL11A	chr9:43445830-43446611	GM12878	blood:	n/a	n/a
14	BHLHE40	chr9:43505744-43505995	A549	lung:	n/a	n/a
15	CEBPB	chr9:43772398-43772773	A549	lung:	n/a	n/a
16	CEBPB	chr9:43475824-43476024	A549	lung:	n/a	chr9:43475938-43475951 chr9:43475938-43475951
17	CEBPB	chr9:43686226-43687047	A549	lung:	n/a	chr9:43686435-43686447
18	CEBPB	chr9:43475810-43476027	IMR90	lung:	n/a	chr9:43475938-43475951 chr9:43475938-43475951
19	CTCF	chr9:43658422-43658478	GM13976	blood:	n/a	n/a
20	CTCF	chr9:43744871-43744936	GM13977	blood:	n/a	n/a
21	CTCF	chr9:43441428-43441451	GM10266	blood:	n/a	n/a
22	CTCF	chr9:43716589-43716662	LNCaP	prostate:	n/a	n/a
23	CTCF	chr9:43653760-43653910	WERI-Rb-1	eye:	n/a	n/a
24	CTCF	chr9:43686774-43687098	HCT-116	colon:	n/a	chr9:43686883-43686904 chr9:43686882-43686898
25	CTCF	chr9:43739325-43739391	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr9:43693074-43693102	Kidney_OC	kidney:	n/a	n/a
27	CTCF	chr9:43686740-43686890	HPAF	blood vessel:	n/a	n/a
28	CTCF	chr9:43653733-43654037	K562	blood:	n/a	chr9:43653906-43653927 chr9:43653907-43653920 chr9:43653904-43653922 chr9:43653905-43653921 chr9:43653909-43653919
29	CTCF	chr9:43686460-43686610	RPTEC	kidney:	n/a	n/a
30	CTCF	chr9:43653760-43653910	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr9:43533432-43533702	K562	blood:	n/a	n/a
32	CTCF	chr9:43653760-43653910	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr9:43533606-43533628	GM13977	blood:	n/a	n/a
34	CTCF	chr9:43737270-43737432	LNCaP	prostate:	n/a	n/a
35	CTCF	chr9:43693063-43693259	K562	blood:	n/a	n/a
36	CTCF	chr9:43498066-43498268	LNCaP	prostate:	n/a	chr9:43498167-43498185
37	CTCF	chr9:43469226-43469238	GM10266	blood:	n/a	n/a
38	CTCF	chr9:43653780-43653930	GM12873	blood:	n/a	chr9:43653906-43653927 chr9:43653907-43653920 chr9:43653904-43653922 chr9:43653905-43653921 chr9:43653909-43653919
39	CTCF	chr9:43686730-43687000	A549	lung:	n/a	chr9:43686883-43686904 chr9:43686882-43686898
40	CTCF	chr9:43746265-43746375	Medullo	brain:	n/a	n/a
41	CTCF	chr9:43701582-43701614	Lung_OC	lung:	n/a	n/a
42	CTCF	chr9:43653680-43654078	A549	lung:	n/a	chr9:43653906-43653927 chr9:43653907-43653920 chr9:43653904-43653922 chr9:43653905-43653921 chr9:43653909-43653919
43	CTCF	chr9:43653873-43653928	Hela-S3	cervix:	n/a	chr9:43653906-43653927 chr9:43653907-43653920 chr9:43653904-43653922 chr9:43653905-43653921 chr9:43653909-43653919
44	CTCF	chr9:43470055-43470141	GM13977	blood:	n/a	n/a
45	CTCF	chr9:43755391-43755488	Kidney_OC	kidney:	n/a	n/a
46	CTCF	chr9:43497980-43498275	K562	blood:	n/a	chr9:43498167-43498185
47	CTCF	chr9:43749105-43749155	GM13977	blood:	n/a	n/a
48	CTCF	chr9:43653704-43654087	GM12878	blood:	n/a	chr9:43653906-43653927 chr9:43653907-43653920 chr9:43653904-43653922 chr9:43653905-43653921 chr9:43653909-43653919
49	CTCF	chr9:43709666-43709770	Kidney_OC	kidney:	n/a	n/a
50	CTCF	chr9:43516542-43516583	Kidney_OC	kidney:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:43631161-43631211	GM06990	blood:	n/a
2	chr9:43631161-43631211	MCF-7	breast:	n/a
3	chr9:43525948-43525998	MCF10A-Er-Src	breast:	n/a
4	chr9:43525320-43525370	IMR90	lung:	fetal
5	chr9:43525320-43525370	HRPEpiC	eye:	n/a
6	chr9:43525948-43525998	HEK293	kidney:	embryo
7	chr9:43525948-43525998	ProgFib	skin:	n/a
8	chr9:43631161-43631211	BE2_C	brain:	n/a
9	chr9:43525948-43525998	T-47D	breast:	n/a
10	chr9:43525948-43525998	GM12891	blood:	n/a
11	chr9:43525948-43525998	HRPEpiC	eye:	n/a
12	chr9:43631161-43631211	PrEC	prostate:	n/a
13	chr9:43525320-43525370	MCF10A-Er-Src	breast:	n/a
14	chr9:43525320-43525370	NHDF-neo	bronchial:	n/a
15	chr9:43525320-43525370	GM12892	blood:	n/a
16	chr9:43525320-43525370	HL-60	blood:	n/a
17	chr9:43631161-43631211	NB4	blood:	n/a
18	chr9:43525320-43525370	Hela-S3	cervix:	n/a
19	chr9:43525320-43525370	T-47D	breast:	n/a
20	chr9:43525320-43525370	SK-N-SH_RA	brain:	n/a
21	chr9:43631161-43631211	T-47D	breast:	n/a
22	chr9:43525320-43525370	HCF	heart:	n/a
23	chr9:43525320-43525370	ovcar-3	ovarian:	n/a
24	chr9:43631161-43631211	SK-N-SH_RA	brain:	n/a
25	chr9:43525320-43525370	Hepatocyte	liver:	n/a
26	chr9:43525948-43525998	HEEpiC	esophagus:	n/a
27	chr9:43631161-43631211	HRE	kidney:	n/a
28	chr9:43631161-43631211	SAEC	small airway:	n/a
29	chr9:43525948-43525998	PrEC	prostate:	n/a
30	chr9:43631161-43631211	HepG2	liver:	n/a
31	chr9:43525320-43525370	LNCaP	prostate:	n/a
32	chr9:43631161-43631211	U87	brain:	n/a
33	chr9:43631161-43631211	GM12891	blood:	n/a
34	chr9:43525948-43525998	SK-N-MC	brain:	n/a
35	chr9:43525320-43525370	NHBE	bronchial:	n/a
36	chr9:43525948-43525998	HCPEpiC	choroid plexus:	n/a
37	chr9:43525320-43525370	AG09309	skin:	n/a
38	chr9:43631161-43631211	SK-N-SH	brain:	n/a
39	chr9:43525948-43525998	GM12878	blood:	n/a
40	chr9:43525948-43525998	HCT-116	colon:	n/a
41	chr9:43631161-43631211	HCM	heart:	n/a
42	chr9:43525948-43525998	HepG2	liver:	n/a
43	chr9:43525948-43525998	HNPCEpiC	eye:	n/a
44	chr9:43631161-43631211	HRCEpiC	kidney:	n/a
45	chr9:43525320-43525370	SAEC	small airway:	n/a
46	chr9:43525948-43525998	HIPEpiC	eye:	n/a
47	chr9:43631161-43631211	HCF	heart:	n/a
48	chr9:43525320-43525370	GM06990	blood:	n/a
49	chr9:43525320-43525370	HEK293	kidney:	embryo
50	chr9:43525320-43525370	HepG2	liver:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD20A3-13	chr9:43629020-43629117	NONHSAT131362
2	lnc-CNTNAP3B-2	chr9:43617727-43618056	NONHSAT131361
3	lnc-ANKRD20A3-13	chr9:43628634-43628694	NONHSAT131362
4	lnc-ANKRD20A3-13	chr9:43627769-43628378	NONHSAT131362

Variant related genes	Relation type
ENSG00000239986	TF binding region
SPATA31A6	TF binding region
CNTNAP3B	TF binding region
ENSG00000239986	CpG island
SPATA31A6	CpG island
CNTNAP3B	CpG island

Extended variants
information (count: 2922 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:2922 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587711934	chr9:43441418-43441419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs587753814	chr9:43441423-43441424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs587651123	chr9:43441467-43441468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs587710053	chr9:43441482-43441483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs587609433	chr9:43441489-43441490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs587618989	chr9:43441498-43441499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs587669695	chr9:43441526-43441527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs62552684	chr9:43441559-43441560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs587710592	chr9:43441613-43441614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs3124267	chr9:43441624-43441625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs587605439	chr9:43441630-43441631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs587666856	chr9:43441631-43441632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs587768154	chr9:43441650-43441651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs587619491	chr9:43441658-43441659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs587701028	chr9:43441693-43441694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373795290	chr9:43441755-43441756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs587651928	chr9:43445616-43445617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs587682929	chr9:43445634-43445635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11261866	chr9:43445655-43445656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192422871	chr9:43445687-43445688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs587645346	chr9:43445688-43445689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75623839	chr9:43445689-43445690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182041763	chr9:43445704-43445705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs587765937	chr9:43445711-43445712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142476846	chr9:43445731-43445732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369014533	chr9:43445733-43445734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs587718423	chr9:43445746-43445747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs587595427	chr9:43445748-43445749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150241256	chr9:43445752-43445753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371528992	chr9:43445753-43445754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs587699278	chr9:43445757-43445758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186259036	chr9:43445792-43445793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189844387	chr9:43445801-43445802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs587768264	chr9:43445802-43445803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs587619231	chr9:43445838-43445839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs587698878	chr9:43445860-43445861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs587754377	chr9:43445898-43445899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12336731	chr9:43445977-43445978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs56376914	chr9:43445985-43445986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs587686294	chr9:43446012-43446013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs587723643	chr9:43446052-43446053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182702057	chr9:43446059-43446060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs587629821	chr9:43446077-43446078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187030496	chr9:43446079-43446080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs587765879	chr9:43446082-43446083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs587638739	chr9:43446101-43446102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs587695702	chr9:43446136-43446137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs587751747	chr9:43446141-43446142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs587641221	chr9:43446155-43446156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs587712936	chr9:43446189-43446190	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Lung cancer	17086460	CNVD
Rhabdomyosarcoma	16790082	CNVD

Chromatin state (count:286 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:43441400-43441800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr9:43445600-43446600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr9:43445600-43446600	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr9:43445800-43446200	Enhancers	Osteobl	bone
5	chr9:43445800-43446600	Enhancers	A549	lung
6	chr9:43446000-43446600	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr9:43450400-43450800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr9:43450800-43454000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr9:43451600-43452000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:43451600-43452600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr9:43451600-43453400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr9:43452400-43452600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr9:43452600-43453000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr9:43452600-43453200	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr9:43452600-43454000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr9:43452600-43455400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr9:43452800-43453000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr9:43453200-43453400	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr9:43453400-43453800	Active TSS	Monocytes-CD14+_RO01746	blood
20	chr9:43453400-43454200	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr9:43453400-43454400	Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr9:43453600-43454000	Active TSS	H9 Cell Line	embryonic stem cell
23	chr9:43453600-43454000	Active TSS	Fetal Brain Female	brain
24	chr9:43453600-43454200	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr9:43454000-43454400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr9:43454000-43456800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr9:43454200-43454400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr9:43454200-43454400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr9:43454400-43454600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
30	chr9:43454400-43454600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr9:43454400-43455400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr9:43454400-43455400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr9:43454400-43455400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr9:43454600-43456800	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr9:43455400-43455600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr9:43455400-43455800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
37	chr9:43455400-43455800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr9:43455400-43455800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr9:43455400-43456000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr9:43455400-43456000	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr9:43455400-43456200	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr9:43455400-43457000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr9:43455400-43457200	Enhancers	H1 Cell Line	embryonic stem cell
44	chr9:43455600-43455800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr9:43455800-43456000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr9:43455800-43456800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr9:43455800-43458000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr9:43456000-43456200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr9:43456000-43457000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr9:43456000-43457200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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