Variant report

Variant	nsv416930
Chromosome Location	chr9:14778629-14780431
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	ATF1	chr9:14779539-14779966	K562	blood:	n/a	n/a
2	ATF3	chr9:14779743-14779981	K562	blood:	n/a	n/a
3	BHLHE40	chr9:14779512-14779982	K562	blood:	n/a	n/a
4	CEBPB	chr9:14779694-14779938	K562	blood:	n/a	chr9:14779847-14779860 chr9:14779848-14779859 chr9:14779847-14779858
5	CEBPB	chr9:14779753-14779973	MCF-7	breast:	n/a	chr9:14779847-14779860 chr9:14779848-14779859 chr9:14779847-14779858
6	CEBPB	chr9:14779678-14780012	HepG2	liver:	n/a	chr9:14779847-14779860 chr9:14779848-14779859 chr9:14779847-14779858
7	CEBPB	chr9:14779706-14780011	K562	blood:	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	EP300	chr9:14779779-14779979	K562	blood:	n/a	chr9:14779845-14779859
10	FOSL2	chr9:14779060-14780485	HepG2	liver:	n/a	n/a
11	GATA2	chr9:14780325-14780722	SH-SY5Y	brain:	n/a	chr9:14780516-14780523 chr9:14780387-14780408
12	JUN	chr9:14779738-14779954	HepG2	liver:	n/a	chr9:14779845-14779858
13	JUND	chr9:14779723-14779997	HepG2	liver:	n/a	n/a
14	JUND	chr9:14779532-14779968	K562	blood:	n/a	n/a
15	MAZ	chr9:14779607-14779679	K562	blood:	n/a	n/a
16	MXI1	chr9:14780095-14781232	SK-N-SH	brain:	n/a	n/a
17	MYC	chr9:14779663-14779892	K562	blood:	n/a	n/a
18	POLR2A	chr9:14778974-14781709	HepG2	liver:	n/a	n/a
19	POLR2A	chr9:14779064-14780300	HepG2	liver:	n/a	n/a
20	POLR2A	chr9:14779067-14780260	HepG2	liver:	n/a	n/a
21	POLR2A	chr9:14778459-14778810	HepG2	liver:	n/a	n/a
22	POLR2A	chr9:14779079-14780189	HepG2	liver:	n/a	n/a
23	RCOR1	chr9:14779554-14779922	K562	blood:	n/a	n/a
24	YY1	chr9:14779364-14779687	SK-N-SH_RA	brain:	n/a	chr9:14779490-14779498 chr9:14779488-14779496 chr9:14779487-14779509 chr9:14779487-14779497
25	YY1	chr9:14779333-14779582	K562	blood:	n/a	chr9:14779490-14779498 chr9:14779488-14779496 chr9:14779487-14779509 chr9:14779487-14779497
26	YY1	chr9:14779291-14779627	GM12878	blood:	n/a	chr9:14779490-14779498 chr9:14779488-14779496 chr9:14779487-14779509 chr9:14779487-14779497
27	YY1	chr9:14779371-14779666	GM12892	blood:	n/a	chr9:14779490-14779498 chr9:14779488-14779496 chr9:14779487-14779509 chr9:14779487-14779497
28	YY1	chr9:14779308-14779567	GM12892	blood:	n/a	chr9:14779490-14779498 chr9:14779488-14779496 chr9:14779487-14779509 chr9:14779487-14779497
29	YY1	chr9:14779240-14779649	H1-hESC	embryonic stem cell:	n/a	chr9:14779490-14779498 chr9:14779488-14779496 chr9:14779487-14779509 chr9:14779487-14779497
30	YY1	chr9:14779349-14779531	GM12891	blood:	n/a	chr9:14779490-14779498 chr9:14779488-14779496 chr9:14779487-14779509 chr9:14779487-14779497
31	YY1	chr9:14779278-14779546	A549	lung:	n/a	chr9:14779490-14779498 chr9:14779488-14779496 chr9:14779487-14779509 chr9:14779487-14779497
32	YY1	chr9:14779121-14779786	H1-hESC	embryonic stem cell:	n/a	chr9:14779490-14779498 chr9:14779488-14779496 chr9:14779487-14779509 chr9:14779487-14779497
33	YY1	chr9:14779277-14779624	HepG2	liver:	n/a	chr9:14779490-14779498 chr9:14779488-14779496 chr9:14779487-14779509 chr9:14779487-14779497
34	YY1	chr9:14779297-14779592	ECC-1	luminal epithelium:	n/a	chr9:14779490-14779498 chr9:14779488-14779496 chr9:14779487-14779509 chr9:14779487-14779497
35	YY1	chr9:14779375-14779673	GM12878	blood:	n/a	chr9:14779490-14779498 chr9:14779488-14779496 chr9:14779487-14779509 chr9:14779487-14779497

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:14778874..14780922-chr9:14784330..14786333,2	K562	blood:

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

Extended variants
information (count: 81 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189831411	chr9:14778661-14778662	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs200254527	chr9:14778672-14778673	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs562430902	chr9:14778675-14778676	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs368703363	chr9:14778677-14778678	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs575966447	chr9:14778684-14778685	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs192469576	chr9:14778703-14778704	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs184395979	chr9:14778743-14778744	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs10122887	chr9:14778748-14778749	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs189566377	chr9:14778753-14778754	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs548730862	chr9:14778783-14778784	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs143077986	chr9:14778804-14778805	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs2131881	chr9:14778918-14778919	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs148151058	chr9:14778932-14778933	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs141938348	chr9:14778933-14778934	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs540182641	chr9:14778945-14778946	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs530459896	chr9:14778984-14778985	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs560557397	chr9:14779079-14779080	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs550498791	chr9:14779080-14779081	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs570323050	chr9:14779083-14779084	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs536072303	chr9:14779170-14779171	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs150700343	chr9:14779172-14779173	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs540417184	chr9:14779177-14779178	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs73644852	chr9:14779219-14779220	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs534291995	chr9:14779225-14779226	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs142213048	chr9:14779228-14779229	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs181829309	chr9:14779248-14779249	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs186137013	chr9:14779281-14779282	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs371461190	chr9:14779421-14779422	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs140996562	chr9:14779424-14779425	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs529453345	chr9:14779456-14779457	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs143018861	chr9:14779474-14779475	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs573569261	chr9:14779514-14779515	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs923918	chr9:14779526-14779527	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs923919	chr9:14779530-14779531	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs552261863	chr9:14779538-14779539	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs528229640	chr9:14779577-14779578	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs188895144	chr9:14779578-14779579	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs10117526	chr9:14779596-14779597	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs377373819	chr9:14779620-14779621	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs544775018	chr9:14779621-14779622	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs530529082	chr9:14779633-14779634	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs550561873	chr9:14779647-14779648	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs923920	chr9:14779671-14779672	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs147447363	chr9:14779675-14779676	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs139983722	chr9:14779677-14779678	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs566135219	chr9:14779723-14779724	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs535169415	chr9:14779735-14779736	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs557976392	chr9:14779759-14779760	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs571370199	chr9:14779804-14779805	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs537067085	chr9:14779811-14779812	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14745000-14809800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr9:14748800-14790000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr9:14755800-14812400	Weak transcription	Pancreas	Pancrea
4	chr9:14758400-14793400	Weak transcription	Aorta	Aorta
5	chr9:14764800-14809600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:14766600-14787400	Weak transcription	Fetal Intestine Large	intestine
7	chr9:14767200-14779200	Weak transcription	Adipose Nuclei	Adipose
8	chr9:14767400-14779000	Weak transcription	Fetal Muscle Leg	muscle
9	chr9:14768600-14808800	Weak transcription	Fetal Intestine Small	intestine
10	chr9:14768800-14780800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr9:14769000-14783000	Weak transcription	Colon Smooth Muscle	Colon
12	chr9:14771000-14780200	Weak transcription	Left Ventricle	heart
13	chr9:14773400-14796400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr9:14774400-14779600	Weak transcription	Psoas Muscle	Psoas
15	chr9:14774600-14779200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr9:14775600-14779400	Weak transcription	Fetal Brain Female	brain
17	chr9:14776200-14779000	Weak transcription	Fetal Brain Male	brain
18	chr9:14776200-14779000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr9:14776200-14779400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:14776200-14779600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr9:14776200-14782400	Weak transcription	HepG2	liver
22	chr9:14776200-14794000	Weak transcription	Fetal Stomach	stomach
23	chr9:14776400-14779400	Weak transcription	Fetal Lung	lung
24	chr9:14776400-14779600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr9:14776400-14782200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr9:14776400-14782400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr9:14777400-14779200	Weak transcription	Fetal Kidney	kidney
28	chr9:14779000-14779200	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr9:14779000-14779800	Enhancers	HSMMtube	muscle
30	chr9:14779000-14780000	Enhancers	HSMM	muscle
31	chr9:14779000-14782000	Enhancers	Fetal Brain Male	brain
32	chr9:14779000-14782000	Enhancers	Fetal Muscle Leg	muscle
33	chr9:14779200-14779400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr9:14779200-14779600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr9:14779200-14779800	Enhancers	Adipose Nuclei	Adipose
36	chr9:14779200-14798600	Strong transcription	Fetal Kidney	kidney
37	chr9:14779400-14779600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr9:14779400-14779600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr9:14779400-14779600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr9:14779400-14779800	Strong transcription	Fetal Lung	lung
41	chr9:14779400-14780400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr9:14779400-14781600	Enhancers	Fetal Brain Female	brain
43	chr9:14779600-14779800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr9:14779600-14779800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr9:14779600-14779800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr9:14779600-14779800	Active TSS	Muscle Satellite Cultured Cells	--
47	chr9:14779600-14779800	Enhancers	Fetal Muscle Trunk	muscle
48	chr9:14779600-14779800	Enhancers	Placenta	Placenta
49	chr9:14779600-14779800	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr9:14779600-14780000	Enhancers	Brain Inferior Temporal Lobe	brain

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