Variant report

Variant	nsv892242
Chromosome Location	chr9:8879472-8941668
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	chr9:8895967-8895969	A549	lung:	n/a	n/a
2	CEBPB	chr9:8889126-8889470	H1-hESC	embryonic stem cell:	n/a	chr9:8889298-8889307 chr9:8889298-8889307 chr9:8889298-8889307 chr9:8889296-8889307
3	CEBPB	chr9:8901482-8901919	HepG2	liver:	n/a	n/a
4	CEBPB	chr9:8910638-8910923	IMR90	lung:	n/a	n/a
5	CEBPB	chr9:8926157-8926470	IMR90	lung:	n/a	chr9:8926304-8926313 chr9:8926302-8926313 chr9:8926304-8926315
6	CEBPB	chr9:8899331-8899567	HepG2	liver:	n/a	chr9:8899382-8899391 chr9:8899380-8899391 chr9:8899382-8899393
7	CEBPB	chr9:8889203-8889415	K562	blood:	n/a	chr9:8889298-8889307 chr9:8889298-8889307 chr9:8889298-8889307 chr9:8889296-8889307
8	CEBPB	chr9:8899375-8899382	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr9:8889118-8889488	A549	lung:	n/a	chr9:8889298-8889307 chr9:8889298-8889307 chr9:8889298-8889307 chr9:8889296-8889307
10	CEBPB	chr9:8889113-8889435	A549	lung:	n/a	chr9:8889298-8889307 chr9:8889298-8889307 chr9:8889298-8889307 chr9:8889296-8889307
11	CEBPB	chr9:8889121-8889489	IMR90	lung:	n/a	chr9:8889298-8889307 chr9:8889298-8889307 chr9:8889298-8889307 chr9:8889296-8889307
12	CEBPB	chr9:8889133-8889482	HepG2	liver:	n/a	chr9:8889298-8889307 chr9:8889298-8889307 chr9:8889298-8889307 chr9:8889296-8889307
13	CEBPB	chr9:8901726-8901938	IMR90	lung:	n/a	n/a
14	CEBPB	chr9:8926156-8926446	HepG2	liver:	n/a	chr9:8926304-8926313 chr9:8926302-8926313 chr9:8926304-8926315
15	CEBPB	chr9:8910663-8910909	HepG2	liver:	n/a	n/a
16	CEBPB	chr9:8910651-8910799	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr9:8937553-8937554	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr9:8895820-8895970	HRE	kidney:	n/a	n/a
19	CTCF	chr9:8895901-8895962	K562	blood:	n/a	n/a
20	CTCF	chr9:8895840-8895990	HCFaa	heart:	n/a	n/a
21	CTCF	chr9:8896236-8896309	GM10248	blood:	n/a	n/a
22	CTCF	chr9:8895880-8896030	AG10803	skin:	n/a	n/a
23	CTCF	chr9:8895880-8896030	HEK293	kidney:	n/a	n/a
24	CTCF	chr9:8895825-8896082	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr9:8895762-8896118	MCF-7	breast:	n/a	n/a
26	CTCF	chr9:8895840-8895990	GM12871	blood:	n/a	n/a
27	CTCF	chr9:8895860-8896010	MCF-7	breast:	n/a	n/a
28	CTCF	chr9:8895840-8895990	GM12864	blood:	n/a	n/a
29	CTCF	chr9:8895840-8895990	WERI-Rb-1	eye:	n/a	n/a
30	CTCF	chr9:8895820-8895970	HA-sp	spinal cord:	n/a	n/a
31	CTCF	chr9:8895820-8895970	GM12873	blood:	n/a	n/a
32	CTCF	chr9:8895833-8896058	Pancreas_OC	pancreas:	n/a	n/a
33	CTCF	chr9:8895804-8896084	HUVEC	blood vessel:	n/a	n/a
34	CTCF	chr9:8895840-8895990	HEK293	kidney:	n/a	n/a
35	CTCF	chr9:8895840-8895990	HMEC	breast:	n/a	n/a
36	CTCF	chr9:8895880-8896030	GM12874	blood:	n/a	n/a
37	CTCF	chr9:8895840-8895990	GM12872	blood:	n/a	n/a
38	CTCF	chr9:8895869-8896026	GM10248	blood:	n/a	n/a
39	CTCF	chr9:8895640-8895692	Medullo	brain:	n/a	n/a
40	CTCF	chr9:8895900-8896050	HL-60	blood:	n/a	n/a
41	CTCF	chr9:8895400-8895550	NHDF-neo	bronchial:	n/a	n/a
42	CTCF	chr9:8895875-8896024	GM10266	blood:	n/a	n/a
43	CTCF	chr9:8895812-8896057	Kidney_OC	kidney:	n/a	n/a
44	CTCF	chr9:8895829-8896046	GM12878	blood:	n/a	n/a
45	CTCF	chr9:8895840-8895990	AG09309	skin:	n/a	n/a
46	CTCF	chr9:8895811-8896048	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr9:8895860-8896010	GM12870	blood:	n/a	n/a
48	CTCF	chr9:8896140-8896290	GM12864	blood:	n/a	n/a
49	CTCF	chr9:8895541-8896238	SK-N-SH	brain:	n/a	n/a
50	CTCF	chr9:8895916-8895953	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:7569880..7570683-chr9:8895710..8896327,2	MCF-7	breast:
2	chr9:7844225..7844973-chr9:8895548..8896327,4	MCF-7	breast:
3	chr9:7569797..7570734-chr9:8895690..8896630,4	MCF-7	breast:
4	chr9:8485590..8486306-chr9:8895648..8896453,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KDM4C-9	chr9:8936079-8936179	ENSG00000234021

Variant related genes	Relation type
ENSG00000251699	TF binding region
ENSG00000234021	TF binding region
ENSG00000153707	chromatin interactions

Extended variants
information (count: 1779 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:1779 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7023424	chr9:8879472-8879473	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184956542	chr9:8879498-8879499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190759737	chr9:8879499-8879500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527418629	chr9:8879564-8879565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547152331	chr9:8879600-8879601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565373762	chr9:8879601-8879602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532832743	chr9:8879678-8879679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182045790	chr9:8879685-8879686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551038657	chr9:8879711-8879712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369587980	chr9:8879722-8879723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1368681	chr9:8879723-8879724	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs116298200	chr9:8879731-8879732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376592421	chr9:8879760-8879761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548198690	chr9:8879803-8879804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566603934	chr9:8879851-8879852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533015181	chr9:8879863-8879864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72704351	chr9:8879865-8879866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558704598	chr9:8879907-8879908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148791626	chr9:8879953-8879954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538046061	chr9:8879960-8879961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73433170	chr9:8879996-8879997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574802721	chr9:8880044-8880045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116903780	chr9:8880075-8880076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560221918	chr9:8880108-8880109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531584082	chr9:8880145-8880146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142080500	chr9:8880159-8880160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545620797	chr9:8880208-8880209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571470193	chr9:8880296-8880297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543621624	chr9:8880335-8880336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191574594	chr9:8880342-8880343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550773489	chr9:8880347-8880348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7846894	chr9:8880355-8880356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182868657	chr9:8880360-8880361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs16928544	chr9:8880363-8880364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76422095	chr9:8880387-8880388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568908199	chr9:8880411-8880412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150717905	chr9:8880415-8880416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534297243	chr9:8880423-8880424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527893379	chr9:8880430-8880431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552341120	chr9:8880434-8880435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185743506	chr9:8880445-8880446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190111944	chr9:8880449-8880450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138987427	chr9:8880476-8880477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145141861	chr9:8880481-8880482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563496971	chr9:8880545-8880546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554751932	chr9:8880554-8880555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373486453	chr9:8880557-8880558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182372181	chr9:8880619-8880620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200724260	chr9:8880620-8880621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567060844	chr9:8880639-8880640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	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
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
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
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	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
Pancreatic cancer	21811587	CNVD
Pancreatic ductal adenocarcinoma	19077451	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
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:203 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8871000-8879800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr9:8871400-8883000	Weak transcription	Fetal Intestine Small	intestine
3	chr9:8875600-8880400	Enhancers	Brain Hippocampus Middle	brain
4	chr9:8876600-8879800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr9:8877600-8879600	Enhancers	Brain Cingulate Gyrus	brain
6	chr9:8877800-8880200	Enhancers	Brain Substantia Nigra	brain
7	chr9:8878000-8882000	Weak transcription	Fetal Intestine Large	intestine
8	chr9:8878000-8882200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:8879000-8879800	Weak transcription	Brain Anterior Caudate	brain
10	chr9:8879600-8886200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr9:8879600-8887000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr9:8879800-8880000	Enhancers	Brain Anterior Caudate	brain
13	chr9:8879800-8880000	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr9:8879800-8880600	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr9:8879800-8880800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr9:8880000-8891600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr9:8880200-8891800	Weak transcription	Brain Substantia Nigra	brain
18	chr9:8880600-8882800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr9:8880800-8883000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr9:8882000-8883400	Enhancers	Fetal Intestine Large	intestine
21	chr9:8882200-8883200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr9:8882800-8883400	Enhancers	Duodenum Mucosa	Duodenum
23	chr9:8882800-8884400	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr9:8883000-8884000	Enhancers	Fetal Intestine Small	intestine
25	chr9:8883000-8884400	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr9:8883200-8884000	Enhancers	Colonic Mucosa	Colon
27	chr9:8883200-8884200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:8883400-8883800	Weak transcription	Fetal Intestine Large	intestine
29	chr9:8883400-8884200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr9:8883800-8884000	Enhancers	Fetal Intestine Large	intestine
31	chr9:8884000-8886800	Weak transcription	Fetal Intestine Small	intestine
32	chr9:8884000-8887200	Weak transcription	Colonic Mucosa	Colon
33	chr9:8884000-8887200	Weak transcription	Fetal Intestine Large	intestine
34	chr9:8884200-8884400	Enhancers	Duodenum Mucosa	Duodenum
35	chr9:8884400-8886200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr9:8884400-8887000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr9:8884800-8885200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr9:8884800-8885400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr9:8884800-8885400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr9:8886200-8887200	Enhancers	Brain Cingulate Gyrus	brain
41	chr9:8886200-8887200	Enhancers	Fetal Lung	lung
42	chr9:8886200-8888200	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr9:8886400-8888200	Enhancers	Brain Hippocampus Middle	brain
44	chr9:8886800-8888200	Enhancers	Fetal Intestine Small	intestine
45	chr9:8887000-8887400	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr9:8887200-8887400	Enhancers	Duodenum Mucosa	Duodenum
47	chr9:8887200-8887600	Enhancers	Fetal Intestine Large	intestine
48	chr9:8887200-8888000	Enhancers	Colonic Mucosa	Colon
49	chr9:8887200-8888400	Enhancers	Dnd41	blood
50	chr9:8887200-8890400	Weak transcription	Brain Cingulate Gyrus	brain

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