Variant report

Variant	nsv614442
Chromosome Location	chr9:43702852-43831337
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:205)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:205 , 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	chr9:43714519-43714714	GM12878	blood:	n/a	n/a
2	CEBPB	chr9:43772398-43772773	A549	lung:	n/a	n/a
3	CTCF	chr9:43777439-43777523	Gliobla	brain:	n/a	n/a
4	CTCF	chr9:43743915-43743932	NHEK	skin:	n/a	n/a
5	CTCF	chr9:43743554-43743601	GM20000	blood:	n/a	n/a
6	CTCF	chr9:43739325-43739391	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr9:43777435-43777550	MCF-7	breast:	n/a	n/a
8	CTCF	chr9:43789989-43790010	HepG2	liver:	n/a	n/a
9	CTCF	chr9:43704942-43705023	GM10248	blood:	n/a	n/a
10	CTCF	chr9:43748784-43748862	GM13976	blood:	n/a	n/a
11	CTCF	chr9:43746265-43746375	Medullo	brain:	n/a	n/a
12	CTCF	chr9:43721666-43721688	Spleen_OC	spleen:	n/a	n/a
13	CTCF	chr9:43816650-43816766	A549	lung:	n/a	n/a
14	CTCF	chr9:43768453-43768500	GM10248	blood:	n/a	n/a
15	CTCF	chr9:43744247-43744294	GM13976	blood:	n/a	n/a
16	CTCF	chr9:43718046-43718098	LNCaP	prostate:	n/a	n/a
17	CTCF	chr9:43816669-43816731	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr9:43709666-43709770	Kidney_OC	kidney:	n/a	n/a
19	CTCF	chr9:43735603-43735679	GM13977	blood:	n/a	n/a
20	CTCF	chr9:43733843-43733904	Medullo	brain:	n/a	n/a
21	CTCF	chr9:43789914-43790084	NHEK	skin:	n/a	n/a
22	CTCF	chr9:43739254-43739349	A549	lung:	n/a	n/a
23	CTCF	chr9:43743917-43744076	Spleen_OC	spleen:	n/a	n/a
24	CTCF	chr9:43769650-43769705	GM10248	blood:	n/a	n/a
25	CTCF	chr9:43703937-43704034	GM10248	blood:	n/a	n/a
26	CTCF	chr9:43808449-43808533	LNCaP	prostate:	n/a	n/a
27	CTCF	chr9:43793772-43793799	Kidney_OC	kidney:	n/a	n/a
28	CTCF	chr9:43704998-43705104	GM13976	blood:	n/a	n/a
29	CTCF	chr9:43758772-43758831	Kidney_OC	kidney:	n/a	n/a
30	CTCF	chr9:43720802-43720888	GM20000	blood:	n/a	n/a
31	CTCF	chr9:43732082-43732116	Kidney_OC	kidney:	n/a	n/a
32	CTCF	chr9:43809104-43809122	A549	lung:	n/a	n/a
33	CTCF	chr9:43713532-43713638	LNCaP	prostate:	n/a	n/a
34	CTCF	chr9:43737270-43737432	LNCaP	prostate:	n/a	n/a
35	CTCF	chr9:43779520-43779576	LNCaP	prostate:	n/a	n/a
36	CTCF	chr9:43804245-43804343	LNCaP	prostate:	n/a	n/a
37	CTCF	chr9:43766216-43766233	Kidney_OC	kidney:	n/a	n/a
38	CTCF	chr9:43713474-43713597	Kidney_OC	kidney:	n/a	n/a
39	CTCF	chr9:43713106-43713190	Kidney_OC	kidney:	n/a	n/a
40	CTCF	chr9:43713052-43713091	Kidney_OC	kidney:	n/a	n/a
41	CTCF	chr9:43756001-43756039	GM10266	blood:	n/a	n/a
42	CTCF	chr9:43728237-43728253	LNCaP	prostate:	n/a	n/a
43	CTCF	chr9:43717732-43717820	LNCaP	prostate:	n/a	n/a
44	CTCF	chr9:43764020-43764027	GM10248	blood:	n/a	n/a
45	CTCF	chr9:43728575-43728610	GM10266	blood:	n/a	n/a
46	CTCF	chr9:43736524-43736638	Spleen_OC	spleen:	n/a	n/a
47	CTCF	chr9:43753523-43753593	Lung_OC	lung:	n/a	n/a
48	CTCF	chr9:43737237-43737268	LNCaP	prostate:	n/a	n/a
49	CTCF	chr9:43789972-43790054	LNCaP	prostate:	n/a	n/a
50	CTCF	chr9:43764799-43764915	Spleen_OC	spleen:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM75A6-5	chr9:43802781-43803039	NONHSAT131363
2	lnc-RP11-160N1.10.1-8	chr9:43828157-43828221	NONHSAT131364
3	lnc-FAM75A6-6	chr9:43830636-43831108	NONHSAT131365
4	lnc-RP11-160N1.10.1-8	chr9:43822729-43822779	NONHSAT131364
5	lnc-RP11-160N1.10.1-8	chr9:43822613-43822699	NONHSAT131364

No data

Variant related genes	Relation type
RN7SL343P	TF binding region

Extended variants
information (count: 311 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:311 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28572375	chr9:43702852-43702853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538553347	chr9:43702880-43702881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370904568	chr9:43702889-43702890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565588399	chr9:43702911-43702912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374181730	chr9:43702928-43702929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377703506	chr9:43702929-43702930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576499318	chr9:43702958-43702959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537123062	chr9:43703006-43703007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558915017	chr9:43703048-43703049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577269533	chr9:43703137-43703138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185303599	chr9:43703152-43703153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190154143	chr9:43703153-43703154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141195977	chr9:43703154-43703155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145154538	chr9:43703163-43703164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542422969	chr9:43703184-43703185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563702297	chr9:43703186-43703187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531437021	chr9:43703194-43703195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192845115	chr9:43703259-43703260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28404212	chr9:43703267-43703268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147602702	chr9:43703291-43703292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531979823	chr9:43703296-43703297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547319614	chr9:43703310-43703311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537649772	chr9:43703325-43703326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565625258	chr9:43703351-43703352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536109920	chr9:43703374-43703375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548387755	chr9:43703422-43703423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149088229	chr9:43703477-43703478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28513285	chr9:43703479-43703480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189161966	chr9:43703488-43703489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200199919	chr9:43703505-43703506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577337168	chr9:43703604-43703605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374828856	chr9:43703623-43703624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553367214	chr9:43703626-43703627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575231730	chr9:43703653-43703654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61395714	chr9:43703687-43703688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563914578	chr9:43703704-43703705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575737445	chr9:43703722-43703723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553127702	chr9:43703729-43703730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144950056	chr9:43703735-43703736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201212393	chr9:43703801-43703802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs180842397	chr9:43703805-43703806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564618751	chr9:43703806-43703807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs202076980	chr9:43703843-43703844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370874060	chr9:43703844-43703845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532016918	chr9:43703849-43703850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540643460	chr9:43703850-43703851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558897526	chr9:43703942-43703943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs56270158	chr9:43703948-43703949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185055687	chr9:43703966-43703967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141995159	chr9:43704014-43704015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
early-passage human iPS cells	21368824	CNVD
Schizophrenia	21346763	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
Lung cancer	17086460	CNVD
Rhabdomyosarcoma	16790082	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:43687200-43704000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:43700200-43704000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:43701600-43704600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr9:43720000-43720200	Enhancers	Colon Smooth Muscle	Colon
5	chr9:43733600-43734000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr9:43733600-43734200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:43733800-43734000	Enhancers	Lung	lung
8	chr9:43742400-43743200	Enhancers	HUVEC	blood vessel
9	chr9:43783400-43783800	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr9:43795400-43795800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:43795400-43795800	Enhancers	HUVEC	blood vessel
12	chr9:43795600-43795800	Enhancers	NH-A	brain
13	chr9:43795600-43796000	Enhancers	HMEC	breast
14	chr9:43823600-43828400	Weak transcription	A549	lung
15	chr9:43824200-43828600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr9:43827800-43850400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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