Variant report

Variant	nsv982355
Chromosome Location	chr9:13840-19662
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	BATF	chr9:14010-14300	GM12878	blood:	n/a	n/a
2	BATF	chr9:16236-16435	GM12878	blood:	n/a	n/a
3	BATF	chr9:16237-16459	GM12878	blood:	n/a	n/a
4	BATF	chr9:14336-14569	GM12878	blood:	n/a	n/a
5	BCL11A	chr9:13061-13972	GM12878	blood:	n/a	n/a
6	BCL11A	chr9:14116-14318	GM12878	blood:	n/a	n/a
7	BCL11A	chr9:17615-17888	GM12878	blood:	n/a	n/a
8	BCL11A	chr9:14331-14506	GM12878	blood:	n/a	n/a
9	BCL11A	chr9:17165-17472	GM12878	blood:	n/a	chr9:17207-17220
10	BCL11A	chr9:17149-17381	GM12878	blood:	n/a	chr9:17207-17220
11	BCL11A	chr9:17569-17736	GM12878	blood:	n/a	n/a
12	BCL11A	chr9:18487-18969	GM12878	blood:	n/a	n/a
13	BCL11A	chr9:16598-16805	GM12878	blood:	n/a	n/a
14	BCL11A	chr9:19595-19790	GM12878	blood:	n/a	n/a
15	BCL11A	chr9:15360-15583	GM12878	blood:	n/a	chr9:15493-15506
16	BCL11A	chr9:18992-19192	GM12878	blood:	n/a	n/a
17	BCL11A	chr9:15658-15840	GM12878	blood:	n/a	n/a
18	BCL11A	chr9:15974-16498	GM12878	blood:	n/a	n/a
19	BHLHE40	chr9:18638-18950	HepG2	liver:	n/a	chr9:18839-18852 chr9:18835-18856
20	BHLHE40	chr9:15534-15854	HepG2	liver:	n/a	n/a
21	BHLHE40	chr9:19616-20204	HepG2	liver:	n/a	n/a
22	CBX3	chr9:13902-14300	K562	blood:	n/a	n/a
23	CTCF	chr9:15713-15795	Medullo	brain:	n/a	chr9:15746-15755
24	CTCF	chr9:15424-16049	K562	blood:	n/a	chr9:15746-15755 chr9:15798-15811
25	CTCF	chr9:15714-15816	A549	lung:	n/a	chr9:15746-15755 chr9:15798-15811
26	CTCF	chr9:15293-15913	A549	lung:	n/a	chr9:15746-15755 chr9:15798-15811
27	CTCF	chr9:15993-16016	GM10266	blood:	n/a	n/a
28	CTCF	chr9:15674-15793	LNCaP	prostate:	n/a	chr9:15746-15755
29	CTCF	chr9:15558-15892	A549	lung:	n/a	chr9:15746-15755 chr9:15798-15811
30	CTCF	chr9:15528-15899	A549	lung:	n/a	chr9:15746-15755 chr9:15798-15811
31	CTCF	chr9:15541-15829	K562	blood:	n/a	chr9:15746-15755 chr9:15798-15811
32	CTCF	chr9:16278-16468	K562	blood:	n/a	n/a
33	CTCF	chr9:15800-15950	HEK293	kidney:	n/a	n/a
34	CTCF	chr9:15651-15825	GM10248	blood:	n/a	chr9:15746-15755 chr9:15798-15811
35	CTCF	chr9:15451-15856	K562	blood:	n/a	chr9:15746-15755 chr9:15798-15811
36	CTCF	chr9:16286-16421	K562	blood:	n/a	n/a
37	CTCF	chr9:15725-15815	GM13976	blood:	n/a	chr9:15746-15755 chr9:15798-15811
38	CTCF	chr9:15686-15838	Gliobla	brain:	n/a	chr9:15746-15755 chr9:15798-15811
39	CTCF	chr9:15425-16062	A549	lung:	n/a	chr9:15746-15755 chr9:15798-15811
40	CTCF	chr9:16170-16453	K562	blood:	n/a	n/a
41	CTCF	chr9:15750-15814	GM12891	blood:	n/a	chr9:15798-15811
42	CTCF	chr9:15730-15760	Kidney_OC	kidney:	n/a	chr9:15746-15755
43	CTCF	chr9:15640-15833	GM10266	blood:	n/a	chr9:15746-15755 chr9:15798-15811
44	CTCF	chr9:15685-15829	Pancreas_OC	pancreas:	n/a	chr9:15746-15755 chr9:15798-15811
45	CTCF	chr9:16156-16555	A549	lung:	n/a	n/a
46	EBF1	chr9:18213-18496	GM12878	blood:	n/a	n/a
47	EBF1	chr9:15313-15963	GM12878	blood:	n/a	n/a
48	EBF1	chr9:18601-18911	GM12878	blood:	n/a	n/a
49	EBF1	chr9:16189-16400	GM12878	blood:	n/a	n/a
50	EBF1	chr9:16893-17206	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DOCK8-7	chr9:13516-14522	NONHSAT129877

Variant related genes	Relation type
ENSG00000181404	TF binding region

Extended variants
information (count: 116 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199872134	chr9:13890-13891	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs546318622	chr9:13920-13921	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs62530142	chr9:13951-13952	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs560178079	chr9:13953-13954	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs56270338	chr9:13962-13963	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs62530143	chr9:14048-14049	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs62530144	chr9:14059-14060	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs62530145	chr9:14085-14086	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs530556968	chr9:14157-14158	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs551874863	chr9:14237-14238	Weak transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs571917194	chr9:14276-14277	Weak transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs200367626	chr9:14292-14293	Weak transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs538916349	chr9:14323-14324	Weak transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs548032503	chr9:14326-14327	Weak transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs566240000	chr9:14381-14382	Weak transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs200633070	chr9:14396-14397	Weak transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs371085279	chr9:14511-14512	Weak transcription Enhancers Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
18	rs149305563	chr9:14665-14666	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536822953	chr9:14666-14667	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555126428	chr9:14676-14677	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs62530146	chr9:14690-14691	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537494527	chr9:14723-14724	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558641794	chr9:14741-14742	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs199668463	chr9:14764-14765	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577073771	chr9:14765-14766	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540940054	chr9:14782-14783	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559138322	chr9:14784-14785	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200581922	chr9:14788-14789	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs71509922	chr9:14810-14811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200377821	chr9:14816-14817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541604625	chr9:14822-14823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370597492	chr9:14829-14830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563083426	chr9:14858-14859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377032602	chr9:14859-14860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs71509923	chr9:14863-14864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374203578	chr9:14878-14879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532853353	chr9:14880-14881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548140904	chr9:14885-14886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566352560	chr9:14886-14887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs71509924	chr9:14889-14890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76748727	chr9:14926-14927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548792992	chr9:14954-14955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570146145	chr9:15000-15001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537105559	chr9:15042-15043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538149368	chr9:15049-15050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371198505	chr9:15066-15067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112689660	chr9:15632-15633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376351950	chr9:15638-15639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558935254	chr9:15842-15843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570722993	chr9:15852-15853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
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
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
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
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
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8800-14200	Weak transcription	Fetal Heart	heart
2	chr9:10400-14200	Weak transcription	Fetal Lung	lung
3	chr9:10400-21600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:11000-14600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr9:11000-16000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:11200-21600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr9:11400-14200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr9:11400-14200	Weak transcription	HSMM	muscle
9	chr9:11400-14200	Weak transcription	HSMMtube	muscle
10	chr9:11400-14200	Weak transcription	K562	blood
11	chr9:11400-14400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr9:11400-20800	Weak transcription	Thymus	Thymus
13	chr9:11800-21600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:12000-21600	Weak transcription	Spleen	Spleen
15	chr9:12200-14200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr9:12400-14200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr9:12800-21600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr9:12800-28800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr9:13000-21800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr9:14000-14200	Weak transcription	Brain Hippocampus Middle	brain
21	chr9:14000-14200	Weak transcription	A549	lung
22	chr9:14200-14400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr9:14200-14400	Enhancers	Brain Hippocampus Middle	brain
24	chr9:14200-14400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr9:14200-14400	Enhancers	Fetal Intestine Large	intestine
26	chr9:14200-14400	Enhancers	A549	lung
27	chr9:14200-14600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr9:14200-14600	Enhancers	Fetal Heart	heart
29	chr9:14200-14600	Enhancers	Stomach Mucosa	stomach
30	chr9:14200-14600	Enhancers	K562	blood
31	chr9:14200-14800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr9:14200-14800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr9:14200-14800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr9:14200-14800	Enhancers	Duodenum Mucosa	Duodenum
35	chr9:14200-14800	Enhancers	Esophagus	oesophagus
36	chr9:14200-14800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr9:14200-14800	Enhancers	Fetal Lung	lung
38	chr9:14200-14800	Enhancers	Fetal Stomach	stomach
39	chr9:14200-14800	Enhancers	Gastric	stomach
40	chr9:14200-14800	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr9:14200-14800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr9:14200-14800	Enhancers	HSMM	muscle
43	chr9:14200-14800	Enhancers	HSMMtube	muscle
44	chr9:14200-15000	Enhancers	Fetal Muscle Trunk	muscle
45	chr9:14200-15000	Enhancers	Lung	lung
46	chr9:14400-14600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr9:14400-14600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr9:14400-14600	Enhancers	Left Ventricle	heart
49	chr9:14400-14800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr9:14400-14800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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