Variant report

Variant	esv1836150
Chromosome Location	chr9:43353062-43400819
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:213)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:213 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr9:43391601-43391805	GM12878	blood:	n/a	n/a
2	BATF	chr9:43393230-43393466	GM12878	blood:	n/a	n/a
3	BATF	chr9:43380741-43381310	GM12878	blood:	n/a	n/a
4	BATF	chr9:43391498-43391789	GM12878	blood:	n/a	n/a
5	BATF	chr9:43380711-43381300	GM12878	blood:	n/a	n/a
6	BATF	chr9:43392171-43392418	GM12878	blood:	n/a	n/a
7	BATF	chr9:43369194-43369353	GM12878	blood:	n/a	n/a
8	BATF	chr9:43397934-43398253	GM12878	blood:	n/a	n/a
9	BATF	chr9:43397875-43398296	GM12878	blood:	n/a	n/a
10	BATF	chr9:43374503-43374725	GM12878	blood:	n/a	n/a
11	BATF	chr9:43393256-43393475	GM12878	blood:	n/a	n/a
12	BCL11A	chr9:43368498-43368743	GM12878	blood:	n/a	n/a
13	BCL11A	chr9:43397937-43398236	GM12878	blood:	n/a	n/a
14	BCL11A	chr9:43374447-43374685	GM12878	blood:	n/a	n/a
15	BCL11A	chr9:43393221-43393463	GM12878	blood:	n/a	n/a
16	BCL11A	chr9:43380719-43381302	GM12878	blood:	n/a	n/a
17	BCL11A	chr9:43380710-43381295	GM12878	blood:	n/a	n/a
18	BCL11A	chr9:43392237-43392400	GM12878	blood:	n/a	n/a
19	BCL11A	chr9:43374467-43374767	GM12878	blood:	n/a	n/a
20	CTCF	chr9:43392340-43392490	GM12873	blood:	n/a	n/a
21	CTCF	chr9:43392284-43392410	GM12892	blood:	n/a	n/a
22	CTCF	chr9:43392340-43392490	HEK293	kidney:	n/a	n/a
23	CTCF	chr9:43392155-43392488	K562	blood:	n/a	n/a
24	CTCF	chr9:43392140-43392507	A549	lung:	n/a	n/a
25	CTCF	chr9:43392300-43392450	HCT-116	colon:	n/a	n/a
26	CTCF	chr9:43392340-43392490	NHEK	skin:	n/a	n/a
27	CTCF	chr9:43392306-43392390	GM12878	blood:	n/a	n/a
28	CTCF	chr9:43392360-43392510	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr9:43392204-43392508	IMR90	lung:	n/a	n/a
30	CTCF	chr9:43392360-43392510	GM06990	blood:	n/a	n/a
31	CTCF	chr9:43392200-43392403	K562	blood:	n/a	n/a
32	CTCF	chr9:43392380-43392530	GM12871	blood:	n/a	n/a
33	CTCF	chr9:43374781-43375151	A549	lung:	n/a	n/a
34	CTCF	chr9:43392129-43392475	A549	lung:	n/a	n/a
35	CTCF	chr9:43392380-43392530	A549	lung:	n/a	n/a
36	CTCF	chr9:43392320-43392470	GM06990	blood:	n/a	n/a
37	CTCF	chr9:43392340-43392490	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr9:43392360-43392510	HPAF	blood vessel:	n/a	n/a
39	CTCF	chr9:43392380-43392530	RPTEC	kidney:	n/a	n/a
40	CTCF	chr9:43374926-43375005	A549	lung:	n/a	n/a
41	CTCF	chr9:43392215-43392441	A549	lung:	n/a	n/a
42	CTCF	chr9:43374849-43375158	A549	lung:	n/a	n/a
43	CTCF	chr9:43388278-43388280	GM10248	blood:	n/a	n/a
44	CTCF	chr9:43392360-43392510	GM12878	blood:	n/a	n/a
45	CTCF	chr9:43392318-43392383	K562	blood:	n/a	n/a
46	CTCF	chr9:43392272-43392395	HUVEC	blood vessel:	n/a	n/a
47	CTCF	chr9:43392380-43392530	GM12872	blood:	n/a	n/a
48	CTCF	chr9:43392260-43392410	GM12865	blood:	n/a	n/a
49	CTCF	chr9:43392360-43392510	HEK293	kidney:	n/a	n/a
50	CTCF	chr9:43392340-43392490	HA-sp	spinal cord:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNTNAP3B-6	chr9:43399987-43401315	NONHSAT131358

No data

Variant related genes	Relation type
ENSG00000223512	TF binding region
ATP5A1P5	TF binding region

Extended variants
information (count: 277 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:277 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146756550	chr9:43376645-43376646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140976576	chr9:43376717-43376718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs62556894	chr9:43376727-43376728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201453525	chr9:43376729-43376730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs587763897	chr9:43376730-43376731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs587640038	chr9:43376764-43376765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs587689421	chr9:43376765-43376766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182580796	chr9:43376782-43376783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs137934037	chr9:43376810-43376811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149463793	chr9:43376822-43376823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs587731510	chr9:43376874-43376875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs587627709	chr9:43376886-43376887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs587664059	chr9:43376890-43376891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs587744066	chr9:43376915-43376916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs587599280	chr9:43377005-43377006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs587678207	chr9:43377006-43377007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs587732087	chr9:43377020-43377021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs587613469	chr9:43377036-43377037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374844648	chr9:43377038-43377039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34092735	chr9:43377191-43377192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs71286163	chr9:43377204-43377205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34059611	chr9:43377207-43377208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs587671204	chr9:43377274-43377275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189880896	chr9:43377306-43377307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs587626437	chr9:43377309-43377310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs180731159	chr9:43377339-43377340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149231140	chr9:43396426-43396427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs587609276	chr9:43396453-43396454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs587682828	chr9:43396500-43396501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs587764438	chr9:43396512-43396513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187673239	chr9:43396523-43396524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs587717386	chr9:43396529-43396530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs587727299	chr9:43396547-43396548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191968618	chr9:43396572-43396573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs587680295	chr9:43396602-43396603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs587756731	chr9:43396603-43396604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs587656849	chr9:43396625-43396626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143023934	chr9:43396635-43396636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs587770334	chr9:43396637-43396638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4961788	chr9:43396655-43396656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs3007473	chr9:43396678-43396679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185734020	chr9:43396697-43396698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs587722703	chr9:43396701-43396702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs587601059	chr9:43396704-43396705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs587645517	chr9:43396717-43396718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs587710612	chr9:43396753-43396754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375080471	chr9:43396755-43396756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs587684617	chr9:43396759-43396760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs587762435	chr9:43396765-43396766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs587614963	chr9:43396768-43396769	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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:43376600-43377400	Enhancers	Primary B cells from peripheral blood	blood
2	chr9:43396400-43399000	Enhancers	Primary B cells from peripheral blood	blood
3	chr9:43399000-43400000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr9:43400000-43400200	Enhancers	Primary B cells from peripheral blood	blood
5	chr9:43400600-43401000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr9:43400800-43401000	Enhancers	Osteobl	bone

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