Variant report

Variant	esv3496791
Chromosome Location	chr9:98674330-98678107
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	chr9:98676617-98676711	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr9:98675075-98675407	HepG2	liver:	n/a	chr9:98675237-98675248
3	CEBPB	chr9:98675071-98675416	Hela-S3	cervix:	n/a	chr9:98675237-98675248
4	CEBPB	chr9:98675122-98675322	H1-hESC	embryonic stem cell:	n/a	chr9:98675237-98675248
5	CEBPB	chr9:98675090-98675411	A549	lung:	n/a	chr9:98675237-98675248
6	CEBPB	chr9:98675106-98675353	K562	blood:	n/a	chr9:98675237-98675248
7	CEBPB	chr9:98675089-98675403	IMR90	lung:	n/a	chr9:98675237-98675248
8	E2F4	chr9:98674617-98674915	MCF10A-Er-Src	breast:	n/a	n/a
9	EP300	chr9:98674249-98675549	SK-N-SH	brain:	n/a	n/a
10	FAM48A	chr9:98674390-98674458	GM12878	blood:	n/a	n/a
11	FOS	chr9:98674608-98674931	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr9:98674607-98675346	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr9:98674612-98675420	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr9:98674597-98675423	MCF10A-Er-Src	breast:	n/a	n/a
15	GATA3	chr9:98675169-98675389	SH-SY5Y	brain:	n/a	n/a
16	MAFK	chr9:98676088-98676233	HepG2	liver:	n/a	n/a
17	POLR2A	chr9:98676663-98676792	MCF-7	breast:	n/a	n/a
18	POLR2A	chr9:98677056-98677604	K562	blood:	n/a	n/a
19	POLR2A	chr9:98676324-98676395	K562	blood:	n/a	n/a
20	POLR2A	chr9:98675070-98675245	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT3	chr9:98675172-98675379	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr9:98677646-98677648	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr9:98674873-98675030	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:98636306..98639029-chr9:98675119..98677767,3	MCF-7	breast:
2	chr9:98557263..98558873-chr9:98672395..98674331,2	K562	blood:

Variant related genes	Relation type
ENSG00000237631	TF binding region
ERCC6L2	TF binding region
ENSG00000175611	chromatin interactions
ENSG00000182150	chromatin interactions

Extended variants
information (count: 156 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76190041	chr9:98674337-98674338	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs560281801	chr9:98674426-98674427	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs528609381	chr9:98674464-98674465	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs540718674	chr9:98674530-98674531	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs74564081	chr9:98674540-98674541	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs529211363	chr9:98674593-98674594	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs35932535	chr9:98674614-98674615	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs34352604	chr9:98674615-98674616	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs144056886	chr9:98674659-98674660	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs376648762	chr9:98674674-98674675	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs377273121	chr9:98674675-98674676	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs550883814	chr9:98674679-98674680	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs148442068	chr9:98674720-98674721	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs59245543	chr9:98674738-98674739	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs185637096	chr9:98674755-98674756	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs190183926	chr9:98674759-98674760	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs80048107	chr9:98674765-98674766	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs549020379	chr9:98674818-98674819	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs567271858	chr9:98674827-98674828	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs181842228	chr9:98674844-98674845	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs377045594	chr9:98674845-98674846	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs546318138	chr9:98674983-98674984	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs564306605	chr9:98675007-98675008	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs556514470	chr9:98675014-98675015	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs79218897	chr9:98675030-98675031	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs565650878	chr9:98675044-98675045	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs538906180	chr9:98675065-98675066	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs386736505	chr9:98675067-98675068	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs115736995	chr9:98675068-98675069	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs372071338	chr9:98675097-98675098	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs139950984	chr9:98675118-98675119	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs79686579	chr9:98675173-98675174	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs544233135	chr9:98675180-98675181	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs562520146	chr9:98675265-98675266	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs80232558	chr9:98675295-98675296	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs187263748	chr9:98675313-98675314	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs147919061	chr9:98675317-98675318	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs576411879	chr9:98675346-98675347	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs527837292	chr9:98675351-98675352	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs192023155	chr9:98675352-98675353	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs567336800	chr9:98675371-98675372	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs543474478	chr9:98675397-98675398	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs537926879	chr9:98675423-98675424	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs562006686	chr9:98675428-98675429	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs571262364	chr9:98675441-98675442	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs538596998	chr9:98675446-98675447	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs553994487	chr9:98675548-98675549	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs375134360	chr9:98675549-98675550	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs13292681	chr9:98675551-98675552	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs140072946	chr9:98675595-98675596	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Effusion lymphoma	18079361	CNVD
Neurodevelopmental disorder	22521361	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:193 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98638800-98702200	Weak transcription	Pancreas	Pancrea
2	chr9:98639400-98677800	Weak transcription	Placenta	Placenta
3	chr9:98639400-98678000	Weak transcription	Ovary	ovary
4	chr9:98639600-98678000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr9:98639800-98677800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr9:98640000-98678200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr9:98640000-98680600	Weak transcription	Colonic Mucosa	Colon
8	chr9:98640000-98685600	Weak transcription	Right Ventricle	heart
9	chr9:98640000-98718600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr9:98640200-98678200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr9:98640400-98677800	Weak transcription	Psoas Muscle	Psoas
12	chr9:98640600-98678000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr9:98642600-98678000	Weak transcription	Colon Smooth Muscle	Colon
14	chr9:98642600-98680600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr9:98642800-98681800	Weak transcription	Fetal Kidney	kidney
16	chr9:98644400-98678400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr9:98644400-98685600	Weak transcription	Gastric	stomach
18	chr9:98644600-98678000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr9:98644600-98690800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:98644800-98677400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr9:98645600-98684200	Weak transcription	Brain Hippocampus Middle	brain
22	chr9:98645800-98678400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr9:98645800-98702200	Weak transcription	Aorta	Aorta
24	chr9:98646000-98680200	Weak transcription	K562	blood
25	chr9:98646600-98681800	Weak transcription	HSMMtube	muscle
26	chr9:98647600-98678000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr9:98647800-98677400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr9:98648200-98677800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr9:98648200-98678600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr9:98649400-98676000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr9:98649400-98694400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr9:98649400-98718600	Weak transcription	Spleen	Spleen
33	chr9:98649600-98677400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr9:98649600-98679000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr9:98649800-98677800	Weak transcription	Osteobl	bone
36	chr9:98653800-98678400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr9:98654000-98677200	Weak transcription	Primary T cells from cord blood	blood
38	chr9:98655200-98677400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr9:98655200-98677800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr9:98655200-98679800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr9:98658400-98678400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr9:98659000-98677200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr9:98659200-98685600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr9:98659800-98684200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr9:98660000-98706000	Weak transcription	Fetal Heart	heart
46	chr9:98660200-98684000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr9:98661200-98677800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr9:98662400-98677800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr9:98662600-98678000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr9:98664000-98678200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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