Variant report

Variant	nsv518837
Chromosome Location	chr9:13144078-13147764
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	CEBPB	chr9:13146906-13147196	A549	lung:	n/a	chr9:13147121-13147134 chr9:13147021-13147032 chr9:13147123-13147134
2	CEBPB	chr9:13146884-13147175	HepG2	liver:	n/a	chr9:13147121-13147134 chr9:13147021-13147032 chr9:13147123-13147134
3	CEBPB	chr9:13146894-13147191	MCF-7	breast:	n/a	chr9:13147121-13147134 chr9:13147021-13147032 chr9:13147123-13147134
4	CEBPB	chr9:13146855-13147270	IMR90	lung:	n/a	chr9:13147121-13147134 chr9:13147021-13147032 chr9:13147123-13147134
5	EP300	chr9:13146882-13147166	K562	blood:	n/a	n/a
6	EP300	chr9:13145196-13145669	SK-N-SH_RA	brain:	n/a	n/a
7	EP300	chr9:13144967-13145857	SK-N-SH	brain:	n/a	n/a
8	FOXA2	chr9:13146914-13147116	HepG2	liver:	n/a	chr9:13147038-13147050
9	FOXP2	chr9:13144490-13144787	SK-N-MC	brain:	n/a	n/a
10	GATA3	chr9:13145225-13145808	SK-N-SH	brain:	n/a	chr9:13145497-13145506
11	GATA3	chr9:13145272-13145855	SK-N-SH	brain:	n/a	chr9:13145497-13145506
12	GATA3	chr9:13147002-13147570	MCF-7	breast:	n/a	n/a
13	GATA3	chr9:13145276-13145799	SH-SY5Y	brain:	n/a	chr9:13145497-13145506
14	GATA3	chr9:13147011-13147329	MCF-7	breast:	n/a	n/a
15	MAFK	chr9:13145817-13145824	HepG2	liver:	n/a	n/a
16	MAX	chr9:13146595-13146657	GM12878	blood:	n/a	n/a
17	USF1	chr9:13144504-13144735	H1-hESC	embryonic stem cell:	n/a	n/a
18	USF1	chr9:13144465-13144727	SK-N-SH_RA	brain:	n/a	n/a
19	USF1	chr9:13144465-13144819	SK-N-SH_RA	brain:	n/a	n/a
20	USF1	chr9:13144413-13144850	H1-hESC	embryonic stem cell:	n/a	n/a
21	ZNF217	chr9:13146936-13147124	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:13138755..13141262-chr9:13142656..13144698,2	MCF-7	breast:

Variant related genes	Relation type
MPDZ	TF binding region
ENSG00000107186	chromatin interactions

Extended variants
information (count: 140 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1854908	chr9:13144078-13144079	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188939064	chr9:13144088-13144089	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs181120932	chr9:13144097-13144098	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs556938537	chr9:13144105-13144106	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs573523282	chr9:13144127-13144128	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs533266546	chr9:13144137-13144138	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs542918253	chr9:13144239-13144240	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs559338708	chr9:13144299-13144300	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs528369345	chr9:13144356-13144357	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs113078236	chr9:13144374-13144375	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs374020581	chr9:13144414-13144415	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs564725515	chr9:13144485-13144486	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs533280688	chr9:13144495-13144496	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs549970670	chr9:13144522-13144523	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs570039129	chr9:13144551-13144552	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs529224693	chr9:13144639-13144640	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs3780575	chr9:13144642-13144643	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs147198913	chr9:13144648-13144649	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs535319386	chr9:13144677-13144678	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs74810887	chr9:13144723-13144724	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs571841126	chr9:13144731-13144732	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs114880949	chr9:13144742-13144743	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs531615432	chr9:13144754-13144755	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs556741130	chr9:13144817-13144818	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs547890176	chr9:13144927-13144928	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573586642	chr9:13144951-13144952	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186484037	chr9:13144954-13144955	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552926490	chr9:13144967-13144968	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs376416420	chr9:13144993-13144994	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs572838389	chr9:13145001-13145002	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs568017843	chr9:13145009-13145010	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs544884393	chr9:13145014-13145015	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs191365752	chr9:13145021-13145022	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs530576250	chr9:13145025-13145026	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs180807330	chr9:13145038-13145039	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs185447666	chr9:13145119-13145120	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs374875874	chr9:13145163-13145164	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs190898301	chr9:13145165-13145166	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs577557909	chr9:13145192-13145193	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs569879091	chr9:13145202-13145203	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs183472556	chr9:13145307-13145308	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs566056833	chr9:13145320-13145321	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs528816359	chr9:13145323-13145324	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs552068702	chr9:13145394-13145395	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs187368750	chr9:13145415-13145416	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs537203031	chr9:13145419-13145420	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs375928563	chr9:13145422-13145423	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs191919576	chr9:13145482-13145483	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs183609110	chr9:13145521-13145522	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs567293026	chr9:13145528-13145529	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
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
abnormal development	18461090	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
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
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	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
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Renal cell carcinoma	21215367	CNVD
Cancer	21215367	CNVD

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13103200-13163400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:13103200-13175600	Weak transcription	HepG2	liver
3	chr9:13105600-13144600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:13106000-13153400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr9:13121600-13225200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr9:13122600-13186400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr9:13135400-13223600	Weak transcription	Lung	lung
8	chr9:13136000-13192400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr9:13136200-13149400	Weak transcription	Fetal Heart	heart
10	chr9:13137400-13152800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:13138200-13161000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr9:13138800-13159800	Weak transcription	Aorta	Aorta
13	chr9:13138800-13191800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr9:13139000-13188200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr9:13139800-13147000	Weak transcription	Fetal Intestine Large	intestine
16	chr9:13139800-13147000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr9:13139800-13149600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr9:13139800-13174800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr9:13140200-13144400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr9:13140200-13144600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr9:13140200-13144600	Weak transcription	Ovary	ovary
22	chr9:13140200-13146800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr9:13140200-13146800	Weak transcription	Left Ventricle	heart
24	chr9:13140200-13147400	Weak transcription	Fetal Muscle Leg	muscle
25	chr9:13140200-13149000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr9:13140200-13149200	Weak transcription	HSMMtube	muscle
27	chr9:13140200-13149600	Weak transcription	Psoas Muscle	Psoas
28	chr9:13140200-13152000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr9:13140200-13152200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr9:13140200-13153600	Weak transcription	Fetal Intestine Small	intestine
31	chr9:13140200-13157000	Weak transcription	Placenta	Placenta
32	chr9:13140200-13161200	Weak transcription	Fetal Stomach	stomach
33	chr9:13140200-13167800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr9:13140200-13174800	Weak transcription	Right Ventricle	heart
35	chr9:13141000-13146800	Enhancers	Fetal Lung	lung
36	chr9:13141000-13146800	Weak transcription	HSMM	muscle
37	chr9:13141000-13147000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr9:13141000-13181600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr9:13141000-13197800	Weak transcription	NHDF-Ad	bronchial
40	chr9:13141200-13188200	Weak transcription	NHLF	lung
41	chr9:13141400-13146800	Weak transcription	NH-A	brain
42	chr9:13141600-13144200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr9:13141600-13147000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr9:13142000-13146600	Weak transcription	Liver	Liver
45	chr9:13142000-13146800	Weak transcription	Osteobl	bone
46	chr9:13142200-13145000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr9:13142200-13155800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr9:13143000-13144600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr9:13143000-13145000	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr9:13143000-13145200	Enhancers	Cortex derived primary cultured neurospheres	brain

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