Variant report

Variant	nsv892616
Chromosome Location	chr9:14762700-14780698
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	chr9:14768583-14768889	K562	blood:	n/a	n/a
2	ATF1	chr9:14779539-14779966	K562	blood:	n/a	n/a
3	ATF3	chr9:14779743-14779981	K562	blood:	n/a	n/a
4	BHLHE40	chr9:14779512-14779982	K562	blood:	n/a	n/a
5	BHLHE40	chr9:14770538-14770679	K562	blood:	n/a	n/a
6	CEBPB	chr9:14777093-14777293	A549	lung:	n/a	chr9:14777261-14777272 chr9:14777124-14777135 chr9:14777124-14777135
7	CEBPB	chr9:14779678-14780012	HepG2	liver:	n/a	chr9:14779847-14779860 chr9:14779848-14779859 chr9:14779847-14779858
8	CEBPB	chr9:14779747-14779985	A549	lung:	n/a	chr9:14779847-14779860 chr9:14779848-14779859 chr9:14779847-14779858
9	CEBPB	chr9:14779753-14779973	MCF-7	breast:	n/a	chr9:14779847-14779860 chr9:14779848-14779859 chr9:14779847-14779858
10	CEBPB	chr9:14779694-14779938	K562	blood:	n/a	chr9:14779847-14779860 chr9:14779848-14779859 chr9:14779847-14779858
11	CEBPB	chr9:14779706-14780011	K562	blood:	n/a	chr9:14779847-14779860 chr9:14779848-14779859 chr9:14779847-14779858
12	CEBPB	chr9:14777095-14777393	HepG2	liver:	n/a	chr9:14777345-14777356 chr9:14777261-14777272 chr9:14777124-14777135 chr9:14777124-14777135 chr9:14777345-14777356
13	CTCF	chr9:14769258-14769521	HUVEC	blood vessel:	n/a	n/a
14	CTCF	chr9:14769300-14769450	NHEK	skin:	n/a	n/a
15	CTCF	chr9:14769280-14769430	HEEpiC	esophagus:	n/a	n/a
16	CTCF	chr9:14769280-14769430	GM06990	blood:	n/a	n/a
17	CTCF	chr9:14768588-14768804	Gliobla	brain:	n/a	chr9:14768698-14768716 chr9:14768699-14768715 chr9:14768693-14768714
18	CTCF	chr9:14769300-14769450	SAEC	small airway:	n/a	n/a
19	CTCF	chr9:14768640-14768790	GM12873	blood:	n/a	chr9:14768698-14768716 chr9:14768699-14768715 chr9:14768693-14768714
20	CTCF	chr9:14768640-14768790	GM12878	blood:	n/a	chr9:14768698-14768716 chr9:14768699-14768715 chr9:14768693-14768714
21	CTCF	chr9:14769344-14769347	HepG2	liver:	n/a	n/a
22	CTCF	chr9:14769300-14769450	NHDF-neo	bronchial:	n/a	n/a
23	CTCF	chr9:14768620-14768770	GM12874	blood:	n/a	chr9:14768698-14768716 chr9:14768699-14768715 chr9:14768693-14768714
24	CTCF	chr9:14769300-14769450	GM12873	blood:	n/a	n/a
25	CTCF	chr9:14769300-14769450	HVMF	connective:	n/a	n/a
26	CTCF	chr9:14769308-14769477	A549	lung:	n/a	n/a
27	CTCF	chr9:14769280-14769430	GM12865	blood:	n/a	n/a
28	CTCF	chr9:14769280-14769430	HA-sp	spinal cord:	n/a	n/a
29	CTCF	chr9:14769260-14769410	Caco-2	colon:	n/a	n/a
30	CTCF	chr9:14768600-14768750	GM12868	blood:	n/a	chr9:14768698-14768716 chr9:14768699-14768715 chr9:14768693-14768714
31	CTCF	chr9:14769200-14769350	NHEK	skin:	n/a	n/a
32	CTCF	chr9:14768600-14768750	RPTEC	kidney:	n/a	chr9:14768698-14768716 chr9:14768699-14768715 chr9:14768693-14768714
33	CTCF	chr9:14768620-14768770	AG09309	skin:	n/a	chr9:14768698-14768716 chr9:14768699-14768715 chr9:14768693-14768714
34	CTCF	chr9:14769257-14769491	Medullo	brain:	n/a	n/a
35	CTCF	chr9:14769221-14769500	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr9:14769189-14769569	GM12878	blood:	n/a	n/a
37	CTCF	chr9:14768640-14768790	GM12874	blood:	n/a	chr9:14768698-14768716 chr9:14768699-14768715 chr9:14768693-14768714
38	CTCF	chr9:14768454-14768839	H1-hESC	embryonic stem cell:	n/a	chr9:14768698-14768716 chr9:14768699-14768715 chr9:14768693-14768714
39	CTCF	chr9:14769320-14769470	GM12870	blood:	n/a	n/a
40	CTCF	chr9:14768600-14768750	HVMF	connective:	n/a	chr9:14768698-14768716 chr9:14768699-14768715 chr9:14768693-14768714
41	CTCF	chr9:14768600-14768750	GM06990	blood:	n/a	chr9:14768698-14768716 chr9:14768699-14768715 chr9:14768693-14768714
42	CTCF	chr9:14769260-14769410	GM12875	blood:	n/a	n/a
43	CTCF	chr9:14768597-14768821	K562	blood:	n/a	chr9:14768698-14768716 chr9:14768699-14768715 chr9:14768693-14768714
44	CTCF	chr9:14769300-14769450	HUVEC	blood vessel:	n/a	n/a
45	CTCF	chr9:14769320-14769470	AG04449	skin:	n/a	n/a
46	CTCF	chr9:14768620-14768770	NHDF-neo	bronchial:	n/a	chr9:14768698-14768716 chr9:14768699-14768715 chr9:14768693-14768714
47	CTCF	chr9:14768920-14769070	AG09309	skin:	n/a	n/a
48	CTCF	chr9:14768620-14768770	GM12867	blood:	n/a	chr9:14768698-14768716 chr9:14768699-14768715 chr9:14768693-14768714
49	CTCF	chr9:14769300-14769449	GM10248	blood:	n/a	n/a
50	CTCF	chr9:14769340-14769490	HRE	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:14693065..14694740-chr9:14764446..14767133,2	MCF-7	breast:
2	chr9:14616185..14616937-chr9:14768483..14769168,4	MCF-7	breast:
3	chr9:14778874..14780922-chr9:14784330..14786333,2	K562	blood:
4	chr9:14465013..14466518-chr9:14768250..14769873,6	MCF-7	breast:
5	chr9:14441846..14442823-chr9:14768420..14769609,5	MCF-7	breast:
6	chr9:14692712..14694901-chr9:14767288..14769707,2	MCF-7	breast:

Variant related genes	Relation type
FREM1	TF binding region
ENSG00000175893	chromatin interactions
ENSG00000164946	chromatin interactions

Extended variants
information (count: 938 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:938 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12685742	chr9:14762700-14762701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs561461141	chr9:14762716-14762717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371086353	chr9:14762753-14762754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34549988	chr9:14762768-14762769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34136678	chr9:14762769-14762770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200743616	chr9:14762770-14762771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556552840	chr9:14762781-14762782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569977005	chr9:14762806-14762807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535714536	chr9:14762807-14762808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75442970	chr9:14762870-14762871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555558884	chr9:14762871-14762872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149827921	chr9:14762884-14762885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs3747533	chr9:14762898-14762899	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs145789284	chr9:14762908-14762909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186155356	chr9:14762938-14762939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577270991	chr9:14762954-14762955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs3747534	chr9:14763025-14763026	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs562908668	chr9:14763026-14763027	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531902762	chr9:14763033-14763034	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs16932272	chr9:14763056-14763057	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs562344271	chr9:14763178-14763179	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10114365	chr9:14763194-14763195	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs547919298	chr9:14763208-14763209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570961428	chr9:14763221-14763222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148980369	chr9:14763226-14763227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376378815	chr9:14763227-14763228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2382499	chr9:14763273-14763274	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs548551287	chr9:14763287-14763288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111507873	chr9:14763314-14763315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568406646	chr9:14763334-14763335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535775289	chr9:14763340-14763341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555363901	chr9:14763370-14763371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534055685	chr9:14763374-14763375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190078048	chr9:14763385-14763386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534519269	chr9:14763430-14763431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533431685	chr9:14763435-14763436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577332304	chr9:14763439-14763440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143841887	chr9:14763511-14763512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556564639	chr9:14763535-14763536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573288885	chr9:14763536-14763537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542553517	chr9:14763557-14763558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181280876	chr9:14763589-14763590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75824715	chr9:14763634-14763635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541276604	chr9:14763688-14763689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186739820	chr9:14763693-14763694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191136329	chr9:14763698-14763699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547138226	chr9:14763703-14763704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550277304	chr9:14763737-14763738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146632260	chr9:14763759-14763760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529269037	chr9:14763764-14763765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
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
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
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
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14730800-14764400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:14745000-14809800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr9:14748800-14775600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr9:14748800-14775800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr9:14748800-14790000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr9:14752800-14775800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr9:14755400-14768400	Weak transcription	Colon Smooth Muscle	Colon
8	chr9:14755600-14765200	Weak transcription	Adipose Nuclei	Adipose
9	chr9:14755800-14766000	Weak transcription	Fetal Intestine Large	intestine
10	chr9:14755800-14775600	Weak transcription	Fetal Stomach	stomach
11	chr9:14755800-14812400	Weak transcription	Pancreas	Pancrea
12	chr9:14756400-14766400	Weak transcription	Fetal Muscle Leg	muscle
13	chr9:14757000-14771800	Strong transcription	Fetal Kidney	kidney
14	chr9:14758200-14766400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr9:14758400-14793400	Weak transcription	Aorta	Aorta
16	chr9:14759400-14765800	Weak transcription	HepG2	liver
17	chr9:14760000-14775200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr9:14760800-14763000	Weak transcription	Fetal Lung	lung
19	chr9:14761400-14763000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr9:14762600-14763800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr9:14763000-14763200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr9:14763000-14770800	Strong transcription	Fetal Lung	lung
23	chr9:14763800-14764200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr9:14764200-14764400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr9:14764400-14764800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:14764400-14765200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:14764800-14809600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:14765200-14765400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr9:14765200-14767200	Strong transcription	Adipose Nuclei	Adipose
30	chr9:14765400-14765600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr9:14765600-14766000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:14765800-14768000	Strong transcription	HepG2	liver
33	chr9:14766000-14766400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr9:14766000-14766600	Enhancers	Fetal Intestine Large	intestine
35	chr9:14766400-14766800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr9:14766400-14767200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr9:14766400-14767400	Strong transcription	Fetal Muscle Leg	muscle
38	chr9:14766600-14766800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr9:14766600-14787400	Weak transcription	Fetal Intestine Large	intestine
40	chr9:14766800-14768400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr9:14766800-14775400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr9:14767200-14769200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr9:14767200-14779200	Weak transcription	Adipose Nuclei	Adipose
44	chr9:14767400-14779000	Weak transcription	Fetal Muscle Leg	muscle
45	chr9:14768000-14769000	Enhancers	HUVEC	blood vessel
46	chr9:14768000-14773400	Weak transcription	HepG2	liver
47	chr9:14768200-14768600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr9:14768200-14768600	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr9:14768400-14768600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr9:14768400-14768600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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