Variant report

Variant	nsv892695
Chromosome Location	chr9:18631044-18680771
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	chr9:18669020-18669356	HepG2	liver:	n/a	n/a
2	BRCA1	chr9:18658837-18659489	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr9:18666502-18666830	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr9:18631285-18631331	A549	lung:	n/a	chr9:18631302-18631311 chr9:18631302-18631311 chr9:18631302-18631311 chr9:18631301-18631312 chr9:18631302-18631311
5	CEBPB	chr9:18638458-18639249	IMR90	lung:	n/a	n/a
6	CEBPB	chr9:18631140-18631424	IMR90	lung:	n/a	chr9:18631302-18631311 chr9:18631302-18631311 chr9:18631302-18631311 chr9:18631301-18631312 chr9:18631302-18631311
7	CEBPB	chr9:18668962-18669337	MCF-7	breast:	n/a	n/a
8	CEBPB	chr9:18658575-18659425	IMR90	lung:	n/a	chr9:18659245-18659262
9	CEBPB	chr9:18658554-18659633	Hela-S3	cervix:	n/a	chr9:18659245-18659262
10	CEBPB	chr9:18632838-18633486	IMR90	lung:	n/a	n/a
11	CEBPB	chr9:18631227-18631419	K562	blood:	n/a	chr9:18631302-18631311 chr9:18631302-18631311 chr9:18631302-18631311 chr9:18631301-18631312 chr9:18631302-18631311
12	CEBPB	chr9:18650195-18650502	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr9:18669029-18669318	HepG2	liver:	n/a	n/a
14	CEBPB	chr9:18668980-18669271	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr9:18632787-18632970	HepG2	liver:	n/a	n/a
16	CEBPB	chr9:18631153-18631463	HepG2	liver:	n/a	chr9:18631302-18631311 chr9:18631302-18631311 chr9:18631302-18631311 chr9:18631301-18631312 chr9:18631302-18631311
17	CHD2	chr9:18662583-18662584	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr9:18675840-18675990	GM06990	blood:	n/a	n/a
19	CTCF	chr9:18673074-18673119	GM10248	blood:	n/a	n/a
20	CTCF	chr9:18667080-18667230	HAc	cerebellar:	n/a	n/a
21	CTCF	chr9:18667120-18667270	AG10803	skin:	n/a	n/a
22	CTCF	chr9:18667080-18667230	HPAF	blood vessel:	n/a	n/a
23	CTCF	chr9:18667120-18667270	AoAF	blood vessel:	n/a	n/a
24	CTCF	chr9:18666200-18666350	NHDF-neo	bronchial:	n/a	n/a
25	CTCF	chr9:18667080-18667230	HPF	lung:	n/a	n/a
26	CTCF	chr9:18667140-18667290	AG10803	skin:	n/a	n/a
27	CTCF	chr9:18667100-18667250	NHDF-neo	bronchial:	n/a	n/a
28	CTCF	chr9:18667040-18667190	AG09319	gingival:	n/a	n/a
29	CTCF	chr9:18667040-18667190	AG09309	skin:	n/a	n/a
30	CTCF	chr9:18667040-18667190	HPAF	blood vessel:	n/a	n/a
31	CTCF	chr9:18672920-18673070	GM12867	blood:	n/a	n/a
32	CTCF	chr9:18667040-18667190	HMEC	breast:	n/a	n/a
33	CTCF	chr9:18667080-18667230	AG09319	gingival:	n/a	n/a
34	CTCF	chr9:18667080-18667230	NHLF	lung:	n/a	n/a
35	E2F4	chr9:18632917-18633261	MCF10A-Er-Src	breast:	n/a	n/a
36	E2F4	chr9:18667513-18667782	MCF10A-Er-Src	breast:	n/a	n/a
37	EP300	chr9:18632906-18633315	SK-N-SH_RA	brain:	n/a	n/a
38	EP300	chr9:18658872-18659045	SK-N-SH_RA	brain:	n/a	n/a
39	EP300	chr9:18638878-18639211	SK-N-SH_RA	brain:	n/a	n/a
40	EP300	chr9:18632889-18633238	SK-N-SH_RA	brain:	n/a	n/a
41	EP300	chr9:18658741-18659475	Hela-S3	cervix:	n/a	chr9:18659249-18659257 chr9:18659288-18659298
42	EP300	chr9:18658562-18659352	SK-N-SH	brain:	n/a	chr9:18659249-18659257 chr9:18659288-18659298
43	EP300	chr9:18658553-18659419	SK-N-SH	brain:	n/a	chr9:18659249-18659257 chr9:18659288-18659298
44	EP300	chr9:18661592-18661951	SK-N-SH_RA	brain:	n/a	n/a
45	EP300	chr9:18661573-18661993	SK-N-SH_RA	brain:	n/a	n/a
46	EP300	chr9:18668921-18669298	H1-hESC	embryonic stem cell:	n/a	n/a
47	FOS	chr9:18658785-18659434	MCF10A-Er-Src	breast:	n/a	chr9:18659006-18659016 chr9:18659006-18659016 chr9:18659006-18659016 chr9:18659006-18659016
48	FOS	chr9:18639028-18639135	MCF10A-Er-Src	breast:	n/a	chr9:18639080-18639088
49	FOS	chr9:18658824-18659295	MCF10A-Er-Src	breast:	n/a	chr9:18659006-18659016 chr9:18659006-18659016 chr9:18659006-18659016 chr9:18659006-18659016
50	FOS	chr9:18668997-18669286	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:126575127..126575844-chr9:18665491..18666183,2	MCF-7	breast:
2	chr9:18662167..18665769-chr9:18669383..18672936,3	MCF-7	breast:
3	chr9:18662167..18665769-chr9:18669383..18672936,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RRAGA-3	chr9:18651145-18651448	NONHSAT130312

Variant related genes	Relation type
RN7SKP258	TF binding region
ADAMTSL1	TF binding region

Extended variants
information (count: 2463 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:2463 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10963684	chr9:18631044-18631045	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554892978	chr9:18631045-18631046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576203936	chr9:18631078-18631079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144623591	chr9:18631098-18631099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187514667	chr9:18631191-18631192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571185584	chr9:18631239-18631240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533480328	chr9:18631247-18631248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538374221	chr9:18631317-18631318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377117168	chr9:18631350-18631351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562558992	chr9:18631367-18631368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370718622	chr9:18631384-18631385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10963685	chr9:18631394-18631395	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs560139941	chr9:18631395-18631396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527670930	chr9:18631404-18631405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139721754	chr9:18631436-18631437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145235868	chr9:18631457-18631458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs59876729	chr9:18631463-18631464	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs550367973	chr9:18631483-18631484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571722790	chr9:18631488-18631489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10963686	chr9:18631514-18631515	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs547502072	chr9:18631591-18631592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117347822	chr9:18631605-18631606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192486647	chr9:18631638-18631639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543669133	chr9:18631716-18631717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565157327	chr9:18631722-18631723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1544308	chr9:18631727-18631728	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs76591788	chr9:18631740-18631741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74826808	chr9:18631742-18631743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10963687	chr9:18631762-18631763	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs147626569	chr9:18631805-18631806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183650347	chr9:18631819-18631820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs16936917	chr9:18631832-18631833	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs142159834	chr9:18631881-18631882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530133215	chr9:18631927-18631928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560211373	chr9:18631937-18631938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572161275	chr9:18631953-18631954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542621379	chr9:18631958-18631959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560912789	chr9:18631981-18631982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532055848	chr9:18632005-18632006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550187977	chr9:18632008-18632009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565510924	chr9:18632017-18632018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532589279	chr9:18632024-18632025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547559659	chr9:18632034-18632035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs16936919	chr9:18632055-18632056	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs142131659	chr9:18632056-18632057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs16936920	chr9:18632066-18632067	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs151163420	chr9:18632083-18632084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10481564	chr9:18632108-18632109	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs558555658	chr9:18632116-18632117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1332712	chr9:18632128-18632129	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:88)

Disease	PMID	Source
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
Chronic lymphocytic leukemia	21546498	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	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
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Myelofibrosis	22110671	CNVD
Autism	20841430	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:445 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18606600-18632200	Weak transcription	NHLF	lung
2	chr9:18621600-18632000	Weak transcription	HSMMtube	muscle
3	chr9:18621800-18632400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr9:18623000-18633200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:18623200-18632600	Weak transcription	Fetal Stomach	stomach
6	chr9:18625200-18632000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr9:18626600-18631600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr9:18627200-18632000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr9:18628000-18632000	Weak transcription	NH-A	brain
10	chr9:18628400-18632000	Weak transcription	NHDF-Ad	bronchial
11	chr9:18629000-18631800	Weak transcription	HSMM	muscle
12	chr9:18629200-18632000	Weak transcription	Right Atrium	heart
13	chr9:18629200-18632600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:18629600-18632800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr9:18630000-18632600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr9:18630000-18632800	Enhancers	Osteobl	bone
17	chr9:18630400-18631800	Weak transcription	HUVEC	blood vessel
18	chr9:18630400-18632600	Weak transcription	Fetal Heart	heart
19	chr9:18631000-18632000	Weak transcription	Brain Anterior Caudate	brain
20	chr9:18631000-18666400	Weak transcription	Aorta	Aorta
21	chr9:18631600-18632600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr9:18631800-18633000	Enhancers	HUVEC	blood vessel
23	chr9:18631800-18634200	Enhancers	HSMM	muscle
24	chr9:18632000-18632200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr9:18632000-18632800	Enhancers	NH-A	brain
26	chr9:18632000-18632800	Enhancers	NHDF-Ad	bronchial
27	chr9:18632000-18633200	Enhancers	Brain Anterior Caudate	brain
28	chr9:18632000-18633200	Enhancers	Right Atrium	heart
29	chr9:18632000-18633400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr9:18632000-18633400	Enhancers	HSMMtube	muscle
31	chr9:18632000-18633600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr9:18632200-18632600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr9:18632200-18633400	Enhancers	NHLF	lung
34	chr9:18632400-18632800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr9:18632400-18632800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr9:18632400-18633000	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr9:18632400-18633400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr9:18632600-18632800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr9:18632600-18633000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr9:18632600-18633000	Enhancers	Fetal Heart	heart
41	chr9:18632600-18633000	Enhancers	Stomach Smooth Muscle	stomach
42	chr9:18632600-18633200	Enhancers	Brain Substantia Nigra	brain
43	chr9:18632600-18633200	Enhancers	Colon Smooth Muscle	Colon
44	chr9:18632600-18633400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr9:18632600-18633400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr9:18632600-18633400	Enhancers	HMEC	breast
47	chr9:18632600-18633600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr9:18632600-18633600	Enhancers	Fetal Stomach	stomach
49	chr9:18632800-18633000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr9:18632800-18633000	Flanking Active TSS	NH-A	brain

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