Variant report

Variant	esv3330945
Chromosome Location	chr9:116374331-116378629
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	chr9:116376294-116376349	HepG2	liver:	n/a	n/a
2	BHLHE40	chr9:116377619-116377877	GM12878	blood:	n/a	n/a
3	CCNT2	chr9:116375263-116375436	K562	blood:	n/a	n/a
4	CEBPB	chr9:116377193-116377726	IMR90	lung:	n/a	n/a
5	CHD2	chr9:116377356-116377805	GM12878	blood:	n/a	n/a
6	CTCF	chr9:116376240-116376390	SK-N-SH_RA	brain:	n/a	n/a
7	CUX1	chr9:116377406-116377580	GM12878	blood:	n/a	chr9:116377536-116377545
8	EBF1	chr9:116377670-116377819	GM12878	blood:	n/a	n/a
9	EBF1	chr9:116377331-116377932	GM12878	blood:	n/a	n/a
10	EGR1	chr9:116377347-116377598	GM12878	blood:	n/a	chr9:116377479-116377494 chr9:116377481-116377491 chr9:116377480-116377493 chr9:116377481-116377491 chr9:116377480-116377493 chr9:116377477-116377491 chr9:116377480-116377493 chr9:116377481-116377492 chr9:116377479-116377493 chr9:116377481-116377490
11	EGR1	chr9:116377330-116377598	K562	blood:	n/a	chr9:116377479-116377494 chr9:116377481-116377491 chr9:116377480-116377493 chr9:116377481-116377491 chr9:116377480-116377493 chr9:116377477-116377491 chr9:116377480-116377493 chr9:116377481-116377492 chr9:116377479-116377493 chr9:116377481-116377490
12	EGR1	chr9:116377303-116377641	K562	blood:	n/a	chr9:116377479-116377494 chr9:116377481-116377491 chr9:116377480-116377493 chr9:116377481-116377491 chr9:116377480-116377493 chr9:116377477-116377491 chr9:116377480-116377493 chr9:116377481-116377492 chr9:116377479-116377493 chr9:116377481-116377490
13	EGR1	chr9:116377311-116377718	ECC-1	luminal epithelium:	n/a	chr9:116377479-116377494 chr9:116377481-116377491 chr9:116377480-116377493 chr9:116377481-116377491 chr9:116377480-116377493 chr9:116377477-116377491 chr9:116377480-116377493 chr9:116377481-116377492 chr9:116377479-116377493 chr9:116377481-116377490
14	EGR1	chr9:116377391-116377577	GM12878	blood:	n/a	chr9:116377479-116377494 chr9:116377481-116377491 chr9:116377480-116377493 chr9:116377481-116377491 chr9:116377480-116377493 chr9:116377477-116377491 chr9:116377480-116377493 chr9:116377481-116377492 chr9:116377479-116377493 chr9:116377481-116377490
15	EP300	chr9:116377468-116377636	GM12878	blood:	n/a	chr9:116377507-116377521
16	EP300	chr9:116377081-116377222	GM12878	blood:	n/a	n/a
17	MAFK	chr9:116377426-116377512	IMR90	lung:	n/a	n/a
18	MAFK	chr9:116377144-116377172	HepG2	liver:	n/a	n/a
19	MAX	chr9:116377654-116377859	GM12878	blood:	n/a	n/a
20	MEF2A	chr9:116377331-116377591	GM12878	blood:	n/a	chr9:116377418-116377433
21	MEF2C	chr9:116377248-116377687	GM12878	blood:	n/a	chr9:116377418-116377433 chr9:116377435-116377450
22	MTA3	chr9:116377233-116377773	GM12878	blood:	n/a	n/a
23	MXI1	chr9:116377611-116377695	GM12878	blood:	n/a	n/a
24	MYC	chr9:116376418-116376511	GM12878	blood:	n/a	n/a
25	MYC	chr9:116377490-116377650	MCF10A-Er-Src	breast:	n/a	n/a
26	NRF1	chr9:116377667-116377762	GM12878	blood:	n/a	n/a
27	POLR2A	chr9:116377182-116377430	IMR90	lung:	n/a	n/a
28	POLR2A	chr9:116376569-116376591	MCF10A-Er-Src	breast:	n/a	n/a
29	RAD21	chr9:116377124-116377542	IMR90	lung:	n/a	n/a
30	RFX5	chr9:116377676-116377847	GM12878	blood:	n/a	n/a
31	RUNX3	chr9:116377289-116377593	GM12878	blood:	n/a	n/a
32	SPI1	chr9:116377477-116377836	GM12891	blood:	n/a	chr9:116377672-116377679
33	SPI1	chr9:116377482-116377837	GM12891	blood:	n/a	chr9:116377672-116377679
34	SPI1	chr9:116377482-116377799	GM12878	blood:	n/a	chr9:116377672-116377679
35	SPI1	chr9:116377445-116378020	GM12878	blood:	n/a	chr9:116377672-116377679
36	STAT3	chr9:116376536-116376736	MCF10A-Er-Src	breast:	n/a	n/a
37	SUZ12	chr9:116376284-116376559	H1-hESC	embryonic stem cell:	n/a	n/a
38	TBL1XR1	chr9:116377386-116377710	GM12878	blood:	n/a	n/a
39	ZNF143	chr9:116377691-116378010	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:116356309..116357937-chr9:116375558..116377978,2	MCF-7	breast:
2	chr9:116368318..116370482-chr9:116376784..116379532,2	MCF-7	breast:
3	chr9:116376628..116378313-chr9:116382222..116384609,3	MCF-7	breast:
4	chr9:116364314..116366664-chr9:116377313..116378930,2	MCF-7	breast:
5	chr9:116373324..116375940-chr9:116380563..116382794,2	MCF-7	breast:
6	chr9:116368954..116370603-chr9:116373905..116376244,2	MCF-7	breast:
7	chr9:116376834..116379828-chr9:116381468..116382973,2	MCF-7	breast:
8	chr9:116375318..116378265-chr9:116400477..116402122,2	K562	blood:
9	chr9:116371231..116372845-chr9:116374624..116376242,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233817	TF binding region
ENSG00000138835	chromatin interactions
ENSG00000233817	chromatin interactions

Extended variants
information (count: 189 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:189 , 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	rs562642732	chr9:116374331-116374332	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs531535864	chr9:116374351-116374352	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs548264122	chr9:116374389-116374390	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs568151904	chr9:116374421-116374422	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs528533614	chr9:116374480-116374481	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs188061050	chr9:116374491-116374492	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs547055508	chr9:116374518-116374519	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs150526722	chr9:116374532-116374533	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs539711210	chr9:116374547-116374548	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs556462494	chr9:116374551-116374552	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs193081658	chr9:116374568-116374569	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs535662874	chr9:116374573-116374574	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs138431700	chr9:116374576-116374577	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs539764976	chr9:116374629-116374630	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs183565040	chr9:116374642-116374643	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs564308719	chr9:116374643-116374644	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs577986286	chr9:116374685-116374686	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs899886	chr9:116374714-116374715	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs531455572	chr9:116374715-116374716	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs531673700	chr9:116374740-116374741	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs548401519	chr9:116374766-116374767	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs146120563	chr9:116374811-116374812	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs4348575	chr9:116374852-116374853	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs899887	chr9:116374859-116374860	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs570326326	chr9:116374869-116374870	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs590963	chr9:116374874-116374875	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs4609260	chr9:116374878-116374879	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs72553649	chr9:116374887-116374888	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs561305	chr9:116374888-116374889	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs535795296	chr9:116374913-116374914	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs591354	chr9:116374938-116374939	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs188756421	chr9:116374946-116374947	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs35573165	chr9:116374949-116374950	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs77377620	chr9:116374968-116374969	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs591426	chr9:116374990-116374991	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs370398262	chr9:116374991-116374992	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs785099	chr9:116375013-116375014	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs785100	chr9:116375023-116375024	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs574498836	chr9:116375033-116375034	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs557438402	chr9:116375044-116375045	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs576383238	chr9:116375089-116375090	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs5900056	chr9:116375093-116375094	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs563771156	chr9:116375094-116375095	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs3983376	chr9:116375109-116375110	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs192572436	chr9:116375115-116375116	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs28510191	chr9:116375146-116375147	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs561696740	chr9:116375151-116375152	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs372768797	chr9:116375183-116375184	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs371079417	chr9:116375301-116375302	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs184006306	chr9:116375304-116375305	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	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
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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:237 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116366200-116375800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr9:116371200-116377800	Weak transcription	Esophagus	oesophagus
3	chr9:116371200-116380200	Enhancers	Fetal Muscle Leg	muscle
4	chr9:116371800-116374400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:116371800-116375400	Enhancers	Pancreas	Pancrea
6	chr9:116371800-116377600	Enhancers	Adipose Nuclei	Adipose
7	chr9:116371800-116379400	Enhancers	Left Ventricle	heart
8	chr9:116372200-116375200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr9:116372200-116376800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr9:116372200-116377000	Weak transcription	Fetal Intestine Large	intestine
11	chr9:116372400-116376200	Weak transcription	Brain Substantia Nigra	brain
12	chr9:116372400-116376400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr9:116372400-116376400	Weak transcription	Brain Angular Gyrus	brain
14	chr9:116372400-116376400	Weak transcription	NH-A	brain
15	chr9:116372400-116376800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr9:116372400-116376800	Weak transcription	Fetal Intestine Small	intestine
17	chr9:116372400-116377000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr9:116372400-116377000	Weak transcription	HMEC	breast
19	chr9:116372600-116375000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr9:116372600-116376200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr9:116372600-116376200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr9:116372600-116376200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr9:116372600-116376200	Weak transcription	Aorta	Aorta
24	chr9:116372600-116376200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr9:116372600-116376200	Weak transcription	Colon Smooth Muscle	Colon
26	chr9:116372600-116376800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr9:116372600-116376800	Weak transcription	Osteobl	bone
28	chr9:116372600-116377000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr9:116372600-116377200	Weak transcription	Brain Anterior Caudate	brain
30	chr9:116372800-116375600	Weak transcription	HSMM	muscle
31	chr9:116372800-116376200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr9:116372800-116376200	Weak transcription	Ovary	ovary
33	chr9:116372800-116376600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr9:116372800-116376600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr9:116372800-116379400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr9:116373000-116376200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr9:116373000-116376200	Weak transcription	Fetal Lung	lung
38	chr9:116373000-116376400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr9:116373000-116376400	Weak transcription	Stomach Mucosa	stomach
40	chr9:116373000-116376400	Enhancers	HepG2	liver
41	chr9:116373200-116376400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:116373200-116376600	Weak transcription	Brain Hippocampus Middle	brain
43	chr9:116373200-116376800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr9:116373200-116377400	Weak transcription	Psoas Muscle	Psoas
45	chr9:116373400-116374400	Weak transcription	Liver	Liver
46	chr9:116373400-116375200	Weak transcription	Right Ventricle	heart
47	chr9:116373400-116375400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr9:116373400-116375600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr9:116373400-116375800	Weak transcription	Lung	lung
50	chr9:116373400-116376400	Weak transcription	Right Atrium	heart

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