Variant report

Variant	nsv1053435
Chromosome Location	chr9:105594399-105733795
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	chr9:105603789-105603818	HepG2	liver:	n/a	n/a
2	CBX3	chr9:105732789-105732939	K562	blood:	n/a	n/a
3	CCNT2	chr9:105654934-105655131	K562	blood:	n/a	n/a
4	CEBPB	chr9:105663505-105663808	IMR90	lung:	n/a	n/a
5	CEBPB	chr9:105707049-105707340	A549	lung:	n/a	chr9:105707185-105707196
6	CEBPB	chr9:105715318-105715459	A549	lung:	n/a	n/a
7	CEBPB	chr9:105716482-105716594	H1-hESC	embryonic stem cell:	n/a	chr9:105716559-105716570 chr9:105716561-105716572 chr9:105716561-105716572
8	CEBPB	chr9:105635789-105636105	HepG2	liver:	n/a	chr9:105635923-105635934 chr9:105635924-105635933 chr9:105635924-105635933 chr9:105635922-105635935 chr9:105635924-105635933 chr9:105635924-105635933
9	CEBPB	chr9:105707047-105707334	HepG2	liver:	n/a	chr9:105707185-105707196
10	CEBPB	chr9:105602596-105602992	A549	lung:	n/a	chr9:105602757-105602768
11	CEBPB	chr9:105595279-105595559	A549	lung:	n/a	n/a
12	CEBPB	chr9:105716400-105716709	HepG2	liver:	n/a	chr9:105716559-105716570 chr9:105716561-105716572 chr9:105716561-105716572
13	CEBPB	chr9:105635761-105636098	IMR90	lung:	n/a	chr9:105635923-105635934 chr9:105635924-105635933 chr9:105635924-105635933 chr9:105635922-105635935 chr9:105635924-105635933 chr9:105635924-105635933
14	CEBPB	chr9:105707036-105707335	IMR90	lung:	n/a	chr9:105707185-105707196
15	CEBPB	chr9:105671366-105671545	A549	lung:	n/a	n/a
16	CEBPB	chr9:105663619-105663820	HepG2	liver:	n/a	n/a
17	CEBPB	chr9:105655038-105655340	HepG2	liver:	n/a	chr9:105655174-105655185 chr9:105655173-105655190 chr9:105655174-105655185 chr9:105655174-105655187 chr9:105655174-105655187 chr9:105655175-105655186 chr9:105655174-105655187
18	CTCF	chr9:105729953-105729968	GM20000	blood:	n/a	n/a
19	CTCF	chr9:105595243-105595324	GM12878	blood:	n/a	chr9:105595259-105595277 chr9:105595254-105595275
20	CTCF	chr9:105595169-105595488	MCF-7	breast:	n/a	chr9:105595259-105595277 chr9:105595254-105595275
21	CTCF	chr9:105717599-105717636	Lung_OC	lung:	n/a	n/a
22	CTCF	chr9:105595144-105595372	H1-hESC	embryonic stem cell:	n/a	chr9:105595259-105595277 chr9:105595254-105595275
23	CTCF	chr9:105601125-105601155	GM13976	blood:	n/a	n/a
24	CTCF	chr9:105604380-105604530	Caco-2	colon:	n/a	n/a
25	CTCF	chr9:105595140-105595477	MCF-7	breast:	n/a	chr9:105595259-105595277 chr9:105595254-105595275
26	CTCF	chr9:105595271-105595317	MCF-7	breast:	n/a	n/a
27	CTCF	chr9:105651120-105651270	GM12865	blood:	n/a	n/a
28	CTCF	chr9:105595223-105595363	LNCaP	prostate:	n/a	chr9:105595259-105595277 chr9:105595254-105595275
29	CTCF	chr9:105595214-105595373	LNCaP	prostate:	n/a	chr9:105595259-105595277 chr9:105595254-105595275
30	CTCF	chr9:105652376-105652440	GM10266	blood:	n/a	n/a
31	CTCF	chr9:105651240-105651390	SK-N-SH_RA	brain:	n/a	n/a
32	E2F4	chr9:105597019-105597141	MCF10A-Er-Src	breast:	n/a	n/a
33	E2F4	chr9:105725027-105725227	MCF10A-Er-Src	breast:	n/a	n/a
34	E2F4	chr9:105643802-105644002	MCF10A-Er-Src	breast:	n/a	n/a
35	E2F4	chr9:105690348-105690403	MCF10A-Er-Src	breast:	n/a	n/a
36	E2F4	chr9:105672427-105672627	MCF10A-Er-Src	breast:	n/a	n/a
37	EBF1	chr9:105673651-105673969	GM12878	blood:	n/a	n/a
38	EP300	chr9:105602530-105603136	A549	lung:	n/a	chr9:105602755-105602769 chr9:105602878-105602887 chr9:105602879-105602888
39	EP300	chr9:105602555-105603028	A549	lung:	n/a	chr9:105602755-105602769 chr9:105602878-105602887 chr9:105602879-105602888
40	FAM48A	chr9:105619006-105619063	GM12878	blood:	n/a	n/a
41	FAM48A	chr9:105671308-105671477	GM12878	blood:	n/a	n/a
42	FOS	chr9:105629648-105630109	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr9:105712755-105712969	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr9:105629581-105630226	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr9:105629648-105630392	HUVEC	blood vessel:	n/a	n/a
46	FOS	chr9:105724986-105725182	MCF10A-Er-Src	breast:	n/a	chr9:105725041-105725052 chr9:105725045-105725053 chr9:105725046-105725053
47	FOS	chr9:105629666-105630199	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr9:105702592-105702893	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr9:105635159-105635489	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr9:105724958-105725141	MCF10A-Er-Src	breast:	n/a	chr9:105725041-105725052 chr9:105725045-105725053 chr9:105725046-105725053

No.	Distal block	Cell Line	Cell type
1	chr9:105601501..105604320-chr9:105604736..105606990,2	K562	blood:
2	chr9:105606535..105608555-chr9:105610541..105613009,2	K562	blood:
3	chr9:105671845..105674344-chr9:105674742..105677700,2	MCF-7	breast:
4	chr9:105583866..105585585-chr9:105595429..105598313,2	K562	blood:
5	chr9:105671845..105674344-chr9:105674742..105677700,2	MCF-7	breast:
6	chr9:105601501..105604320-chr9:105604736..105606990,2	K562	blood:
7	chr9:105606535..105608555-chr9:105610541..105613009,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYLC2-3	chr9:105684856-105685526	NONHSAT133769

Variant related genes	Relation type
ENSG00000234269	TF binding region

Extended variants
information (count: 2241 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:2241 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16922210	chr9:105594399-105594400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs543498913	chr9:105594407-105594408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563321123	chr9:105594418-105594419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76266034	chr9:105594420-105594421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556315729	chr9:105594430-105594431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2812597	chr9:105594453-105594454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs559576771	chr9:105594519-105594520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78287412	chr9:105594562-105594563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76785138	chr9:105594566-105594567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78122072	chr9:105594567-105594568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78096509	chr9:105594568-105594569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528340193	chr9:105594581-105594582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190625466	chr9:105594593-105594594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567863017	chr9:105594621-105594622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536394957	chr9:105594647-105594648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370837022	chr9:105594713-105594714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549851611	chr9:105594748-105594749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs55813537	chr9:105594750-105594751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200050637	chr9:105594758-105594759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182914697	chr9:105594878-105594879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4743595	chr9:105594934-105594935	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs114027385	chr9:105594935-105594936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545211775	chr9:105594959-105594960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572716888	chr9:105594982-105594983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560184694	chr9:105595055-105595056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572450788	chr9:105595089-105595090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188669575	chr9:105595100-105595101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs193233742	chr9:105595124-105595125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575084733	chr9:105595150-105595151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543583051	chr9:105595155-105595156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2812598	chr9:105595169-105595170	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs1492598	chr9:105595173-105595174	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs183412816	chr9:105595213-105595214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549889330	chr9:105595328-105595329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142243609	chr9:105595343-105595344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528390200	chr9:105595354-105595355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144542365	chr9:105595389-105595390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2797638	chr9:105595398-105595399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs58413757	chr9:105595435-105595436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187345663	chr9:105595474-105595475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34934890	chr9:105595512-105595513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569834595	chr9:105595551-105595552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532468463	chr9:105595587-105595588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552553316	chr9:105595595-105595596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192297328	chr9:105595615-105595616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10512305	chr9:105595627-105595628	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs555293692	chr9:105595648-105595649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112672320	chr9:105595657-105595658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554404996	chr9:105595658-105595659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537621035	chr9:105595692-105595693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:105591600-105603200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr9:105602400-105603800	Enhancers	Fetal Intestine Large	intestine
3	chr9:105602400-105606800	Enhancers	Fetal Intestine Small	intestine
4	chr9:105602600-105605200	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr9:105602600-105605400	Enhancers	Liver	Liver
6	chr9:105603000-105603200	Enhancers	Duodenum Mucosa	Duodenum
7	chr9:105603200-105603600	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr9:105603200-105604200	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr9:105603400-105603600	Enhancers	A549	lung
10	chr9:105603400-105603800	Enhancers	Fetal Kidney	kidney
11	chr9:105603400-105605200	Enhancers	HepG2	liver
12	chr9:105603600-105604400	Weak transcription	A549	lung
13	chr9:105603600-105604800	Active TSS	Duodenum Mucosa	Duodenum
14	chr9:105603800-105604200	Weak transcription	Fetal Intestine Large	intestine
15	chr9:105604200-105607800	Enhancers	Fetal Intestine Large	intestine
16	chr9:105604400-105605200	Enhancers	A549	lung
17	chr9:105604800-105605000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr9:105605000-105607800	Enhancers	Duodenum Mucosa	Duodenum
19	chr9:105605200-105607400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr9:105605600-105605800	Enhancers	Fetal Kidney	kidney
21	chr9:105606400-105607000	Enhancers	Small Intestine	intestine
22	chr9:105607000-105607400	Weak transcription	Small Intestine	intestine
23	chr9:105607400-105607800	Enhancers	Small Intestine	intestine
24	chr9:105607400-105608600	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr9:105607800-105608800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr9:105608600-105608800	Enhancers	Fetal Intestine Small	intestine
27	chr9:105608800-105609000	Enhancers	Duodenum Mucosa	Duodenum
28	chr9:105616800-105617200	Enhancers	Placenta Amnion	Placenta Amnion
29	chr9:105616800-105619000	Enhancers	Fetal Heart	heart
30	chr9:105617000-105617200	Enhancers	Left Ventricle	heart
31	chr9:105617200-105618000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr9:105618000-105618800	Enhancers	Placenta Amnion	Placenta Amnion
33	chr9:105619000-105625400	Weak transcription	Fetal Heart	heart
34	chr9:105625400-105626600	Enhancers	Fetal Heart	heart
35	chr9:105625800-105626200	Enhancers	Fetal Intestine Small	intestine
36	chr9:105625800-105626200	Enhancers	Left Ventricle	heart
37	chr9:105626200-105629600	Weak transcription	Fetal Intestine Small	intestine
38	chr9:105626600-105628400	Weak transcription	Fetal Heart	heart
39	chr9:105628400-105630400	Enhancers	Fetal Heart	heart
40	chr9:105628600-105628800	Enhancers	Pancreas	Pancrea
41	chr9:105628600-105630200	Enhancers	NH-A	brain
42	chr9:105629200-105629400	Enhancers	Placenta Amnion	Placenta Amnion
43	chr9:105629200-105630600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr9:105629400-105630000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr9:105629600-105630000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr9:105629600-105630000	Enhancers	Fetal Intestine Small	intestine
47	chr9:105629800-105630200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr9:105630000-105630200	Enhancers	Placenta Amnion	Placenta Amnion
49	chr9:105630200-105635200	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr9:105630400-105637600	Weak transcription	Fetal Heart	heart

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