Variant report

Variant	nsv614444
Chromosome Location	chr9:43704169-43831337
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:204)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:204 , 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	chr9:43743554-43743601	GM20000	blood:	n/a	n/a
4	CTCF	chr9:43743915-43743932	NHEK	skin:	n/a	n/a
5	CTCF	chr9:43795523-43795611	Spleen_OC	spleen:	n/a	n/a
6	CTCF	chr9:43714268-43714327	Medullo	brain:	n/a	n/a
7	CTCF	chr9:43712695-43712735	GM13976	blood:	n/a	n/a
8	CTCF	chr9:43764020-43764027	GM10248	blood:	n/a	n/a
9	CTCF	chr9:43732082-43732116	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr9:43764799-43764915	Spleen_OC	spleen:	n/a	n/a
11	CTCF	chr9:43720802-43720888	GM20000	blood:	n/a	n/a
12	CTCF	chr9:43789974-43790017	Kidney_OC	kidney:	n/a	n/a
13	CTCF	chr9:43793772-43793799	Kidney_OC	kidney:	n/a	n/a
14	CTCF	chr9:43739325-43739391	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr9:43789972-43790054	LNCaP	prostate:	n/a	n/a
16	CTCF	chr9:43795463-43795556	GM10248	blood:	n/a	n/a
17	CTCF	chr9:43816650-43816766	A549	lung:	n/a	n/a
18	CTCF	chr9:43789914-43790084	NHEK	skin:	n/a	n/a
19	CTCF	chr9:43737237-43737268	LNCaP	prostate:	n/a	n/a
20	CTCF	chr9:43804245-43804343	LNCaP	prostate:	n/a	n/a
21	CTCF	chr9:43744871-43744936	GM13977	blood:	n/a	n/a
22	CTCF	chr9:43749105-43749155	GM13977	blood:	n/a	n/a
23	CTCF	chr9:43709666-43709770	Kidney_OC	kidney:	n/a	n/a
24	CTCF	chr9:43736718-43736777	Lung_OC	lung:	n/a	n/a
25	CTCF	chr9:43704942-43705023	GM10248	blood:	n/a	n/a
26	CTCF	chr9:43806141-43806248	GM10248	blood:	n/a	n/a
27	CTCF	chr9:43737270-43737432	LNCaP	prostate:	n/a	n/a
28	CTCF	chr9:43713803-43713920	LNCaP	prostate:	n/a	chr9:43713911-43713918
29	CTCF	chr9:43755391-43755488	Kidney_OC	kidney:	n/a	n/a
30	CTCF	chr9:43779520-43779576	LNCaP	prostate:	n/a	n/a
31	CTCF	chr9:43714316-43714407	GM20000	blood:	n/a	n/a
32	CTCF	chr9:43735603-43735679	GM13977	blood:	n/a	n/a
33	CTCF	chr9:43728237-43728253	LNCaP	prostate:	n/a	n/a
34	CTCF	chr9:43713052-43713091	Kidney_OC	kidney:	n/a	n/a
35	CTCF	chr9:43789934-43790054	A549	lung:	n/a	n/a
36	CTCF	chr9:43717732-43717820	LNCaP	prostate:	n/a	n/a
37	CTCF	chr9:43767867-43767973	GM10248	blood:	n/a	n/a
38	CTCF	chr9:43745509-43745652	Spleen_OC	spleen:	n/a	n/a
39	CTCF	chr9:43733209-43733352	Spleen_OC	spleen:	n/a	n/a
40	CTCF	chr9:43708282-43708383	GM10248	blood:	n/a	n/a
41	CTCF	chr9:43728575-43728610	GM10266	blood:	n/a	n/a
42	CTCF	chr9:43816667-43816732	GM12892	blood:	n/a	n/a
43	CTCF	chr9:43789917-43790054	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr9:43743866-43743941	A549	lung:	n/a	n/a
45	CTCF	chr9:43821852-43821908	GM13976	blood:	n/a	n/a
46	CTCF	chr9:43753523-43753593	Lung_OC	lung:	n/a	n/a
47	CTCF	chr9:43767348-43767424	Lung_OC	lung:	n/a	n/a
48	CTCF	chr9:43789989-43790010	HepG2	liver:	n/a	n/a
49	CTCF	chr9:43739254-43739349	A549	lung:	n/a	n/a
50	CTCF	chr9:43748042-43748102	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-RP11-160N1.10.1-8	chr9:43822729-43822779	NONHSAT131364
2	lnc-FAM75A6-6	chr9:43830636-43831108	NONHSAT131365
3	lnc-RP11-160N1.10.1-8	chr9:43822613-43822699	NONHSAT131364
4	lnc-RP11-160N1.10.1-8	chr9:43828157-43828221	NONHSAT131364
5	lnc-FAM75A6-5	chr9:43802781-43803039	NONHSAT131363

No data

Variant related genes	Relation type
RN7SL343P	TF binding region

Extended variants
information (count: 247 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:247 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28478808	chr9:43704169-43704170	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181247379	chr9:43704170-43704171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557364617	chr9:43704171-43704172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186901554	chr9:43704181-43704182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562767530	chr9:43704231-43704232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374172292	chr9:43704232-43704233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191973601	chr9:43704252-43704253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546068734	chr9:43704331-43704332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557898468	chr9:43704332-43704333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576553308	chr9:43704338-43704339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540680165	chr9:43704369-43704370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76617784	chr9:43704374-43704375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563915960	chr9:43704383-43704384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141585143	chr9:43704397-43704398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542154166	chr9:43704405-43704406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182920331	chr9:43704415-43704416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62558872	chr9:43704433-43704434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552422051	chr9:43704439-43704440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570613514	chr9:43704486-43704487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186469227	chr9:43704506-43704507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547103892	chr9:43704514-43704515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568486773	chr9:43704580-43704581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529039120	chr9:43720003-43720004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181492702	chr9:43720020-43720021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77805259	chr9:43720030-43720031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550691412	chr9:43720064-43720065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201891204	chr9:43720094-43720095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568897845	chr9:43720148-43720149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539426801	chr9:43720160-43720161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551057065	chr9:43720168-43720169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566781548	chr9:43720172-43720173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12000702	chr9:43720192-43720193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562694746	chr9:43733612-43733613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs62558912	chr9:43733688-43733689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201390720	chr9:43733723-43733724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs386361255	chr9:43733724-43733725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs180729239	chr9:43733741-43733742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374902375	chr9:43733756-43733757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185515236	chr9:43733798-43733799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs62558913	chr9:43733828-43733829	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs142561253	chr9:43733843-43733844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368105205	chr9:43733854-43733855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560763173	chr9:43733878-43733879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527863411	chr9:43733891-43733892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372345599	chr9:43733901-43733902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543208052	chr9:43733906-43733907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189931962	chr9:43733929-43733930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140819023	chr9:43733942-43733943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs111364654	chr9:43733943-43733944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145915180	chr9:43733974-43733975	Enhancers	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:14 , 50 per page) page: 1

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

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