Variant report

Variant	nsv1033299
Chromosome Location	chr9:9776126-9796116
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	chr9:9790306-9790512	HepG2	liver:	n/a	n/a
2	BHLHE40	chr9:9790315-9790593	GM12878	blood:	n/a	n/a
3	BRCA1	chr9:9790311-9790476	HepG2	liver:	n/a	n/a
4	CEBPB	chr9:9781774-9781789	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr9:9790306-9790518	A549	lung:	n/a	chr9:9790450-9790458
6	CTCF	chr9:9792182-9792193	GM10248	blood:	n/a	n/a
7	CTCF	chr9:9790380-9790530	GM12867	blood:	n/a	chr9:9790450-9790458
8	CTCF	chr9:9791760-9791910	HUVEC	blood vessel:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
9	CTCF	chr9:9790240-9790390	A549	lung:	n/a	n/a
10	CTCF	chr9:9790360-9790510	GM12866	blood:	n/a	chr9:9790450-9790458
11	CTCF	chr9:9790400-9790550	BE2_C	brain:	n/a	chr9:9790450-9790458
12	CTCF	chr9:9791760-9791910	HMEC	breast:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
13	CTCF	chr9:9790380-9790530	HFF-Myc	foreskin:	n/a	chr9:9790450-9790458
14	CTCF	chr9:9790380-9790530	Hela-S3	cervix:	n/a	chr9:9790450-9790458
15	CTCF	chr9:9790327-9790569	LNCaP	prostate:	n/a	chr9:9790450-9790458
16	CTCF	chr9:9790285-9790614	K562	blood:	n/a	chr9:9790450-9790458
17	CTCF	chr9:9791780-9791930	HMF	breast:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
18	CTCF	chr9:9790360-9790510	NHDF-neo	bronchial:	n/a	chr9:9790450-9790458
19	CTCF	chr9:9790380-9790530	K562	blood:	n/a	chr9:9790450-9790458
20	CTCF	chr9:9791860-9792010	MCF-7	breast:	n/a	n/a
21	CTCF	chr9:9791623-9792177	SK-N-SH	brain:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
22	CTCF	chr9:9790420-9790570	HPAF	blood vessel:	n/a	chr9:9790450-9790458
23	CTCF	chr9:9790380-9790530	HPF	lung:	n/a	chr9:9790450-9790458
24	CTCF	chr9:9790380-9790530	GM12866	blood:	n/a	chr9:9790450-9790458
25	CTCF	chr9:9790380-9790530	AoAF	blood vessel:	n/a	chr9:9790450-9790458
26	CTCF	chr9:9790282-9790581	A549	lung:	n/a	chr9:9790450-9790458
27	CTCF	chr9:9790400-9790550	HEEpiC	esophagus:	n/a	chr9:9790450-9790458
28	CTCF	chr9:9791860-9792010	HepG2	liver:	n/a	n/a
29	CTCF	chr9:9791694-9792018	GM12878	blood:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
30	CTCF	chr9:9790360-9790510	GM12870	blood:	n/a	chr9:9790450-9790458
31	CTCF	chr9:9790329-9790576	GM10266	blood:	n/a	chr9:9790450-9790458
32	CTCF	chr9:9790358-9790459	Fibrobl	skin:	n/a	chr9:9790450-9790458
33	CTCF	chr9:9790400-9790550	GM12865	blood:	n/a	chr9:9790450-9790458
34	CTCF	chr9:9791727-9791967	HUVEC	blood vessel:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
35	CTCF	chr9:9790334-9790531	SK-N-SH_RA	brain:	n/a	chr9:9790450-9790458
36	CTCF	chr9:9790400-9790550	GM12872	blood:	n/a	chr9:9790450-9790458
37	CTCF	chr9:9790360-9790510	NHLF	lung:	n/a	chr9:9790450-9790458
38	CTCF	chr9:9791760-9791910	HPF	lung:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
39	CTCF	chr9:9790365-9790542	K562	blood:	n/a	chr9:9790450-9790458
40	CTCF	chr9:9791760-9791910	SK-N-SH_RA	brain:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
41	CTCF	chr9:9790360-9790510	HUVEC	blood vessel:	n/a	chr9:9790450-9790458
42	CTCF	chr9:9791788-9791955	LNCaP	prostate:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
43	CTCF	chr9:9790320-9790470	K562	blood:	n/a	chr9:9790450-9790458
44	CTCF	chr9:9790400-9790550	HMF	breast:	n/a	chr9:9790450-9790458
45	CTCF	chr9:9790320-9790521	HepG2	liver:	n/a	chr9:9790450-9790458
46	CTCF	chr9:9778994-9779135	GM10248	blood:	n/a	n/a
47	CTCF	chr9:9790360-9790510	Caco-2	colon:	n/a	chr9:9790450-9790458
48	CTCF	chr9:9791780-9791930	HPAF	blood vessel:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
49	CTCF	chr9:9790400-9790550	AG04449	skin:	n/a	chr9:9790450-9790458
50	CTCF	chr9:9790342-9790449	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:9606591..9607143-chr9:9791328..9791942,2	MCF-7	breast:
2	chr9:9606153..9607209-chr9:9791346..9792141,4	MCF-7	breast:
3	chr9:9606507..9607603-chr9:9789935..9790958,7	MCF-7	breast:
4	chr9:9606480..9607195-chr9:9789919..9790916,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230920	TF binding region

Extended variants
information (count: 734 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187557351	chr9:9776131-9776132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577405583	chr9:9776173-9776174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546352007	chr9:9776195-9776196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576658305	chr9:9776198-9776199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192417136	chr9:9776252-9776253	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs183955550	chr9:9776253-9776254	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs542552332	chr9:9776318-9776319	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs144927233	chr9:9776351-9776352	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs529771595	chr9:9776366-9776367	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs149063668	chr9:9776369-9776370	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs374162944	chr9:9776378-9776379	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs559752083	chr9:9776384-9776385	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs532056954	chr9:9776385-9776386	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs551875938	chr9:9776388-9776389	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs562308180	chr9:9776444-9776445	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs372468397	chr9:9776445-9776446	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs531412373	chr9:9776446-9776447	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs548418357	chr9:9776447-9776448	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs577292769	chr9:9776481-9776482	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs188923614	chr9:9776506-9776507	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs534136283	chr9:9776509-9776510	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs572680597	chr9:9776517-9776518	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs547457372	chr9:9776520-9776521	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs376165351	chr9:9776558-9776559	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs539911192	chr9:9776561-9776562	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs556707855	chr9:9776591-9776592	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs200586503	chr9:9776636-9776637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576666075	chr9:9776643-9776644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535671025	chr9:9776646-9776647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544410363	chr9:9776665-9776666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555970382	chr9:9776694-9776695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541086130	chr9:9776697-9776698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192702121	chr9:9776704-9776705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143093510	chr9:9776713-9776714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112795558	chr9:9776733-9776734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs981790	chr9:9776760-9776761	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs576447240	chr9:9776775-9776776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184543248	chr9:9776829-9776830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116783107	chr9:9776840-9776841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10977972	chr9:9776856-9776857	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs189675464	chr9:9776877-9776878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs151138661	chr9:9776913-9776914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527567685	chr9:9776934-9776935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs981791	chr9:9776936-9776937	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs570822719	chr9:9776942-9776943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141168533	chr9:9776954-9776955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548872080	chr9:9776964-9776965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2821498	chr9:9777072-9777073	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs570156037	chr9:9777092-9777093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs55736789	chr9:9777102-9777103	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:114)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
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
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung adenocarcinoma	17982442	CNVD
Schizophrenia	23813976	CNVD
Nasopharyngeal cancer	20548289	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9765000-9778800	Weak transcription	Aorta	Aorta
2	chr9:9775400-9776200	Enhancers	HUVEC	blood vessel
3	chr9:9776200-9776600	Flanking Active TSS	HUVEC	blood vessel
4	chr9:9776200-9776800	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr9:9776600-9779000	Enhancers	HUVEC	blood vessel
6	chr9:9778400-9778800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr9:9778400-9778800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr9:9779000-9782000	Weak transcription	HUVEC	blood vessel
9	chr9:9779400-9780000	Enhancers	NH-A	brain
10	chr9:9782000-9784000	Enhancers	HUVEC	blood vessel
11	chr9:9782600-9784000	Enhancers	Brain Angular Gyrus	brain
12	chr9:9782800-9783400	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr9:9783400-9783800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr9:9783600-9784000	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr9:9783800-9784600	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr9:9784600-9786000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr9:9786000-9786200	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr9:9789200-9789400	Enhancers	Liver	Liver
19	chr9:9790000-9790400	Enhancers	Dnd41	blood
20	chr9:9790200-9790400	Enhancers	Liver	Liver
21	chr9:9791400-9793000	Enhancers	Primary B cells from cord blood	blood
22	chr9:9792000-9792600	Enhancers	Primary hematopoietic stem cells	blood
23	chr9:9792000-9792600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr9:9792000-9792600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr9:9792200-9792800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links