Variant report

Variant	nsv614951
Chromosome Location	chr9:101355624-101368008
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	BHLHE40	chr9:101357111-101357355	K562	blood:	n/a	n/a
2	CEBPB	chr9:101366401-101366804	IMR90	lung:	n/a	chr9:101366586-101366597
3	CEBPB	chr9:101366540-101366695	Hela-S3	cervix:	n/a	chr9:101366586-101366597
4	CEBPB	chr9:101366335-101366894	MCF-7	breast:	n/a	chr9:101366586-101366597
5	CEBPB	chr9:101366532-101366741	HepG2	liver:	n/a	chr9:101366586-101366597
6	CEBPB	chr9:101357570-101357658	HepG2	liver:	n/a	n/a
7	CEBPB	chr9:101366427-101366660	K562	blood:	n/a	chr9:101366586-101366597
8	CEBPB	chr9:101366421-101366799	MCF-7	breast:	n/a	chr9:101366586-101366597
9	CEBPB	chr9:101366444-101366751	K562	blood:	n/a	chr9:101366586-101366597
10	CTCF	chr9:101356020-101356170	HEK293	kidney:	n/a	n/a
11	CTCF	chr9:101355940-101356090	Caco-2	colon:	n/a	n/a
12	FOS	chr9:101366468-101366658	MCF10A-Er-Src	breast:	n/a	n/a
13	HNF4A	chr9:101356935-101357198	HepG2	liver:	n/a	chr9:101357011-101357023 chr9:101357010-101357025 chr9:101357011-101357024 chr9:101357010-101357025 chr9:101357009-101357024 chr9:101357010-101357024 chr9:101357008-101357026 chr9:101357010-101357025 chr9:101357016-101357024 chr9:101357012-101357024 chr9:101357011-101357023
14	MAFK	chr9:101365246-101365424	HepG2	liver:	n/a	chr9:101365384-101365395 chr9:101365384-101365395
15	MAFK	chr9:101365342-101365416	HepG2	liver:	n/a	chr9:101365384-101365395 chr9:101365384-101365395
16	MYC	chr9:101363066-101363104	MCF-7	breast:	n/a	n/a
17	POLR2A	chr9:101363095-101363104	MCF-7	breast:	n/a	n/a
18	POLR2A	chr9:101366652-101366722	K562	blood:	n/a	n/a
19	REST	chr9:101357377-101357560	K562	blood:	n/a	n/a
20	USF1	chr9:101364305-101364449	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:101357716..101359633-chr9:101366066..101368066,2	MCF-7	breast:
2	chr9:101357066..101358707-chr9:101361271..101363344,2	MCF-7	breast:
3	chr9:101357716..101359633-chr9:101366066..101368066,2	MCF-7	breast:
4	chr9:101055613..101057802-chr9:101364140..101366924,2	MCF-7	breast:
5	chr9:101357111..101359289-chr9:101361878..101364554,2	K562	blood:
6	chr9:101357111..101359289-chr9:101361878..101364554,2	K562	blood:
7	chr9:101345246..101347632-chr9:101356201..101357934,2	K562	blood:
8	chr9:101357019..101358611-chr9:101362189..101364554,2	K562	blood:
9	chr9:101336462..101338082-chr9:101358424..101360399,2	K562	blood:
10	chr9:101365076..101367032-chr9:101538151..101540469,2	MCF-7	breast:
11	chr9:101357066..101358707-chr9:101361271..101363344,2	MCF-7	breast:
12	chr9:101357019..101358611-chr9:101362189..101364554,2	K562	blood:
13	chr9:101348954..101351869-chr9:101360452..101363029,2	MCF-7	breast:

Variant related genes	Relation type
SEPT7P7	TF binding region
ENSG00000165138	chromatin interactions

Extended variants
information (count: 467 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:467 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2808539	chr9:101355624-101355625	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs551823006	chr9:101355635-101355636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564062098	chr9:101355645-101355646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534549699	chr9:101355665-101355666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77789964	chr9:101355666-101355667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373451436	chr9:101355671-101355672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138723548	chr9:101355672-101355673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568087238	chr9:101355727-101355728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184424757	chr9:101355735-101355736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536011714	chr9:101355738-101355739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546695375	chr9:101355748-101355749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142971507	chr9:101355768-101355769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546339699	chr9:101355784-101355785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187611161	chr9:101355860-101355861	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111725889	chr9:101355914-101355915	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192490413	chr9:101355923-101355924	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10986878	chr9:101355949-101355950	Enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs185743245	chr9:101355981-101355982	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374982615	chr9:101355992-101355993	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2808540	chr9:101355996-101355997	Enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs146198818	chr9:101355998-101355999	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11787957	chr9:101356005-101356006	Enhancers Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs374192552	chr9:101356029-101356030	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138966980	chr9:101356030-101356031	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375850050	chr9:101356031-101356032	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190652956	chr9:101356049-101356050	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34181928	chr9:101356054-101356055	Enhancers Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs35835340	chr9:101356061-101356062	Enhancers Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs142871725	chr9:101356075-101356076	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147416686	chr9:101356082-101356083	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10819066	chr9:101356091-101356092	Enhancers Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs11791770	chr9:101356102-101356103	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114842304	chr9:101356109-101356110	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553324949	chr9:101356124-101356125	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573306577	chr9:101356191-101356192	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559914744	chr9:101356197-101356198	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368652642	chr9:101356217-101356218	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562155312	chr9:101356225-101356226	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141685813	chr9:101356300-101356301	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75006393	chr9:101356328-101356329	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564470753	chr9:101356336-101356337	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533434857	chr9:101356396-101356397	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369623025	chr9:101356428-101356429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1999500	chr9:101356515-101356516	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs377588528	chr9:101356525-101356526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1999499	chr9:101356553-101356554	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs528184183	chr9:101356568-101356569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548233171	chr9:101356570-101356571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568183417	chr9:101356572-101356573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530753116	chr9:101356576-101356577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Neurodevelopmental disorder	22521361	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Esophageal cancer	21851588	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101347200-101358800	Weak transcription	Fetal Brain Female	brain
2	chr9:101351600-101355800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:101351600-101365800	Weak transcription	Right Atrium	heart
4	chr9:101353400-101356600	Weak transcription	Fetal Brain Male	brain
5	chr9:101355400-101356200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr9:101355600-101356000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr9:101355600-101356200	Weak transcription	Brain Angular Gyrus	brain
8	chr9:101355600-101356600	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr9:101355800-101356000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:101356000-101356400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr9:101356000-101357200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr9:101356200-101356400	Enhancers	Brain Angular Gyrus	brain
13	chr9:101356400-101357600	Enhancers	Duodenum Mucosa	Duodenum
14	chr9:101356400-101358000	Enhancers	Fetal Intestine Small	intestine
15	chr9:101356400-101362000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr9:101356400-101363000	Weak transcription	Brain Angular Gyrus	brain
17	chr9:101356600-101358000	Enhancers	Fetal Intestine Large	intestine
18	chr9:101356600-101359000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr9:101356600-101360000	Enhancers	Fetal Brain Male	brain
20	chr9:101357200-101357800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr9:101357400-101357600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:101357800-101358800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr9:101357800-101359000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr9:101358000-101360000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr9:101358200-101359200	Enhancers	Pancreas	Pancrea
26	chr9:101358800-101359800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr9:101358800-101360000	Enhancers	Fetal Brain Female	brain
28	chr9:101359000-101359400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr9:101359000-101359400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr9:101359000-101359400	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr9:101359000-101360000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr9:101359000-101360000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr9:101359200-101359400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr9:101359400-101362000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr9:101359600-101362000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr9:101359800-101365000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr9:101360000-101361400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr9:101360000-101362200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr9:101360000-101362600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr9:101361800-101362000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr9:101361800-101363400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr9:101362000-101362600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr9:101362000-101363200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:101362000-101363200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr9:101362000-101363200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr9:101362200-101362600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr9:101362200-101362600	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr9:101362600-101364200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr9:101362600-101365000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr9:101363000-101363200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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