Variant report

Variant	esv3325686
Chromosome Location	chr9:21182087-21194435
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	BATF	chr9:21183391-21183669	GM12878	blood:	n/a	n/a
2	BATF	chr9:21183393-21183622	GM12878	blood:	n/a	n/a
3	BCL11A	chr9:21183431-21183637	GM12878	blood:	n/a	chr9:21183522-21183531
4	CEBPB	chr9:21183206-21183372	A549	lung:	n/a	n/a
5	CTCF	chr9:21183060-21183210	HMEC	breast:	n/a	n/a
6	CTCF	chr9:21183300-21183450	HAc	cerebellar:	n/a	n/a
7	CTCF	chr9:21183200-21183350	HPAF	blood vessel:	n/a	chr9:21183259-21183277
8	CTCF	chr9:21183220-21183370	GM12872	blood:	n/a	chr9:21183259-21183277
9	CTCF	chr9:21183131-21183352	SK-N-SH_RA	brain:	n/a	chr9:21183259-21183277
10	CTCF	chr9:21183200-21183350	HFF-Myc	foreskin:	n/a	chr9:21183259-21183277
11	CTCF	chr9:21183180-21183330	GM12801	blood:	n/a	chr9:21183259-21183277
12	CTCF	chr9:21183134-21183365	GM20000	blood:	n/a	chr9:21183259-21183277
13	CTCF	chr9:21183120-21183270	MCF-7	breast:	n/a	n/a
14	CTCF	chr9:21183280-21183430	HFF	foreskin:	n/a	n/a
15	CTCF	chr9:21183200-21183350	GM12865	blood:	n/a	chr9:21183259-21183277
16	CTCF	chr9:21183100-21183250	HFF-Myc	foreskin:	n/a	n/a
17	CTCF	chr9:21183200-21183350	AG10803	skin:	n/a	chr9:21183259-21183277
18	CTCF	chr9:21183100-21183250	GM12872	blood:	n/a	n/a
19	CTCF	chr9:21183180-21183330	HepG2	liver:	n/a	chr9:21183259-21183277
20	CTCF	chr9:21183127-21183325	GM12891	blood:	n/a	chr9:21183259-21183277
21	CTCF	chr9:21183123-21183390	Spleen_OC	spleen:	n/a	chr9:21183259-21183277
22	CTCF	chr9:21183114-21183386	GM10266	blood:	n/a	chr9:21183259-21183277
23	CTCF	chr9:21183180-21183330	GM12867	blood:	n/a	chr9:21183259-21183277
24	CTCF	chr9:21183160-21183310	AoAF	blood vessel:	n/a	chr9:21183259-21183277
25	CTCF	chr9:21183100-21183250	A549	lung:	n/a	n/a
26	CTCF	chr9:21183180-21183330	GM12864	blood:	n/a	chr9:21183259-21183277
27	CTCF	chr9:21182949-21182964	GM13977	blood:	n/a	n/a
28	CTCF	chr9:21183129-21183372	ProgFib	skin:	n/a	chr9:21183259-21183277
29	CTCF	chr9:21183020-21183170	A549	lung:	n/a	n/a
30	CTCF	chr9:21183260-21183410	GM12872	blood:	n/a	n/a
31	CTCF	chr9:21183122-21183350	GM12892	blood:	n/a	chr9:21183259-21183277
32	CTCF	chr9:21183142-21183363	A549	lung:	n/a	chr9:21183259-21183277
33	CTCF	chr9:21183121-21183361	NHEK	skin:	n/a	chr9:21183259-21183277
34	CTCF	chr9:21183127-21183381	LNCaP	prostate:	n/a	chr9:21183259-21183277
35	CTCF	chr9:21183160-21183450	HCT-116	colon:	n/a	chr9:21183259-21183277
36	CTCF	chr9:21183180-21183330	GM12865	blood:	n/a	chr9:21183259-21183277
37	CTCF	chr9:21183160-21183310	AG04449	skin:	n/a	chr9:21183259-21183277
38	CTCF	chr9:21183043-21183389	A549	lung:	n/a	chr9:21183259-21183277
39	CTCF	chr9:21183200-21183350	WERI-Rb-1	eye:	n/a	chr9:21183259-21183277
40	CTCF	chr9:21183180-21183330	NB4	blood:	n/a	chr9:21183259-21183277
41	CTCF	chr9:21183180-21183330	GM12868	blood:	n/a	chr9:21183259-21183277
42	CTCF	chr9:21183280-21183430	AG09319	gingival:	n/a	n/a
43	CTCF	chr9:21183200-21183350	HA-sp	spinal cord:	n/a	chr9:21183259-21183277
44	CTCF	chr9:21183118-21183375	MCF-7	breast:	n/a	chr9:21183259-21183277
45	CTCF	chr9:21183536-21183600	GM10266	blood:	n/a	n/a
46	CTCF	chr9:21183080-21183230	HVMF	connective:	n/a	n/a
47	CTCF	chr9:21183132-21183332	MCF-7	breast:	n/a	chr9:21183259-21183277
48	CTCF	chr9:21183150-21183374	Lung_OC	lung:	n/a	chr9:21183259-21183277
49	CTCF	chr9:21183220-21183370	AG09309	skin:	n/a	chr9:21183259-21183277
50	CTCF	chr9:21183526-21183531	GM10266	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:21187344-21187394	AoSMC	blood vessel:	n/a
2	chr9:21187344-21187394	HEEpiC	esophagus:	n/a
3	chr9:21187344-21187394	BJ	skin:	n/a
4	chr9:21187344-21187394	HepG2	liver:	n/a
5	chr9:21187344-21187394	AG04449	skin:	fetal
6	chr9:21187344-21187394	HCM	heart:	n/a
7	chr9:21187344-21187394	AG09309	skin:	n/a
8	chr9:21187344-21187394	A549	lung:	n/a
9	chr9:21187344-21187394	HPAEpiC	pulmonary alveolar:	n/a
10	chr9:21187344-21187394	K562	blood:	n/a
11	chr9:21187344-21187394	Hepatocyte	liver:	n/a
12	chr9:21187344-21187394	HEK293	kidney:	embryo
13	chr9:21187344-21187394	GM19239	blood:	n/a
14	chr9:21187344-21187394	NHDF-neo	bronchial:	n/a
15	chr9:21187344-21187394	U87	brain:	n/a
16	chr9:21187344-21187394	GM06990	blood:	n/a
17	chr9:21187344-21187394	GM12891	blood:	n/a
18	chr9:21187344-21187394	CMK	blood:	n/a
19	chr9:21187344-21187394	NB4	blood:	n/a
20	chr9:21187344-21187394	HRPEpiC	eye:	n/a
21	chr9:21187344-21187394	GM12892	blood:	n/a
22	chr9:21187344-21187394	AG10803	skin:	n/a
23	chr9:21187344-21187394	LNCaP	prostate:	n/a
24	chr9:21187344-21187394	HCT-116	colon:	n/a
25	chr9:21187344-21187394	HAEpiC	amniotic membrane:	n/a
26	chr9:21187344-21187394	SK-N-MC	brain:	n/a
27	chr9:21187344-21187394	PANC-1	pancreas:	n/a
28	chr9:21187344-21187394	HCF	heart:	n/a
29	chr9:21187344-21187394	T-47D	breast:	n/a
30	chr9:21187344-21187394	SK-N-SH_RA	brain:	n/a
31	chr9:21187344-21187394	HUVEC	blood vessel:	n/a
32	chr9:21187344-21187394	Hela-S3	cervix:	n/a
33	chr9:21187344-21187394	SK-N-SH	brain:	n/a
34	chr9:21187344-21187394	BE2_C	brain:	n/a
35	chr9:21187344-21187394	IMR90	lung:	fetal
36	chr9:21187344-21187394	NT2-D1	testis:	n/a
37	chr9:21187344-21187394	AG09319	gingival:	n/a
38	chr9:21187344-21187394	ovcar-3	ovarian:	n/a
39	chr9:21187344-21187394	Jurkat	blood:	n/a
40	chr9:21187344-21187394	PrEC	prostate:	n/a
41	chr9:21187344-21187394	RPTEC	kidney:	n/a
42	chr9:21187344-21187394	MCF-7	breast:	n/a
43	chr9:21187344-21187394	PFSK-1	brain:	n/a
44	chr9:21187344-21187394	SKMC	muscle:	n/a
45	chr9:21187344-21187394	HL-60	blood:	n/a
46	chr9:21187344-21187394	MCF10A-Er-Src	breast:	n/a
47	chr9:21187344-21187394	HMEC	breast:	n/a
48	chr9:21187344-21187394	GM12878	blood:	n/a
49	chr9:21187344-21187394	HCPEpiC	choroid plexus:	n/a
50	chr9:21187344-21187394	Caco-2	colon:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IFNA4-1	chr9:21190653-21191243	NONHSAT130373

Variant related genes	Relation type
IFNWP15	TF binding region
IFNWP9	TF binding region
IFNA4	TF binding region
IFNWP15	CpG island
IFNWP9	CpG island
IFNA4	CpG island

Extended variants
information (count: 114 )
Associated
traits (count: 152 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560154446	chr9:21182825-21182826	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs529246091	chr9:21182838-21182839	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs542917345	chr9:21182843-21182844	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs562800578	chr9:21182847-21182848	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs531800445	chr9:21182848-21182849	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs372648991	chr9:21182894-21182895	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs150176092	chr9:21182901-21182902	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs533080396	chr9:21182913-21182914	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs527417972	chr9:21182928-21182929	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs546376952	chr9:21182941-21182942	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs192186693	chr9:21182977-21182978	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs7022016	chr9:21182980-21182981	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs555718098	chr9:21182984-21182985	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs569145569	chr9:21182999-21183000	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs565385978	chr9:21183032-21183033	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs10691782	chr9:21183059-21183060	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs34336826	chr9:21183060-21183061	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs397717153	chr9:21183062-21183063	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs35389575	chr9:21183063-21183064	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs537728295	chr9:21183077-21183078	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs557967170	chr9:21183095-21183096	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs577754382	chr9:21183098-21183099	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs540767504	chr9:21183100-21183101	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs553802207	chr9:21183107-21183108	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs552032173	chr9:21183141-21183142	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs113867718	chr9:21183180-21183181	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs542577962	chr9:21183197-21183198	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs28637304	chr9:21183219-21183220	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs532057596	chr9:21183225-21183226	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs545358726	chr9:21183227-21183228	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs565512991	chr9:21183228-21183229	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs148941898	chr9:21183247-21183248	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs112312496	chr9:21183284-21183285	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs111868548	chr9:21183298-21183299	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs546729965	chr9:21183310-21183311	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs528085697	chr9:21183315-21183316	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs528920903	chr9:21183346-21183347	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs12345537	chr9:21183349-21183350	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs568855924	chr9:21183356-21183357	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs145687518	chr9:21183369-21183370	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs557762783	chr9:21183395-21183396	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs571421305	chr9:21183416-21183417	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs188655349	chr9:21183431-21183432	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs138331261	chr9:21183443-21183444	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs191902247	chr9:21183444-21183445	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs542688515	chr9:21183461-21183462	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs556170903	chr9:21183462-21183463	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs7040257	chr9:21183520-21183521	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs545689516	chr9:21183525-21183526	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs189580774	chr9:21183549-21183550	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:152)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
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
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Glioblastoma multiforme	21569311	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	22429812	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Primary central nervous system lymphoma	21088137	CNVD
head and neck squamous cell carcinoma	21798897	CNVD
Cancer	21253487	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Leukemia	19602459	CNVD
Acute monocytic leukemia	16498392	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Leukemia	18688285	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Glioma	20126413	CNVD
Glioblastoma multiforme	21525872	CNVD
Melanoma	17363583	CNVD
Glioblastoma multiforme	19115005	CNVD
Glioblastoma multiforme	21138945	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Cancer	20581869	CNVD
XY gonadal dysgenesis	20685758	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
Oral cancer	22144094	CNVD
Lung cancer	21569311	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21182800-21184000	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr9:21183000-21183400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr9:21183000-21183400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr9:21183200-21184000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr9:21183400-21184000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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