Variant report

Variant	esv2761547
Chromosome Location	chr9:100109870-100115159
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr9:100110434-100110640	HepG2	liver:	n/a	chr9:100110550-100110563 chr9:100110551-100110562 chr9:100110550-100110561
2	MYC	chr9:100113143-100113308	MCF10A-Er-Src	breast:	n/a	n/a
3	MYC	chr9:100112576-100112679	MCF-7	breast:	n/a	n/a
4	POLR2A	chr9:100113211-100113353	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr9:100111965-100112010	K562	blood:	n/a	n/a
6	POLR2A	chr9:100112517-100112520	A549	lung:	n/a	n/a
7	RCOR1	chr9:100111840-100112040	K562	blood:	n/a	n/a
8	RCOR1	chr9:100111871-100112002	K562	blood:	n/a	n/a
9	SPI1	chr9:100111772-100111921	K562	blood:	n/a	n/a
10	ZNF143	chr9:100111708-100112032	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100109341..100111757-chr9:100115390..100116945,2	MCF-7	breast:
2	chr9:100108364..100110444-chr9:100117430..100119341,2	MCF-7	breast:
3	chr9:100114494..100116557-chr9:100123186..100125444,2	K562	blood:
4	chr9:100114477..100116085-chr9:100173617..100175862,2	MCF-7	breast:
5	chr9:100115057..100118663-chr9:100121927..100124718,3	K562	blood:
6	chr9:100110632..100113070-chr9:100116598..100119346,3	K562	blood:

No data

Variant related genes	Relation type
CCDC180	TF binding region
ENSG00000196116	chromatin interactions
ENSG00000197816	chromatin interactions

Extended variants
information (count: 178 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:178 , 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	rs539100255	chr9:100109902-100109903	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs147412862	chr9:100109936-100109937	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs577495339	chr9:100109963-100109964	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs545898401	chr9:100109974-100109975	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs535349505	chr9:100110014-100110015	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs553115221	chr9:100110030-100110031	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs557602446	chr9:100110097-100110098	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs576084626	chr9:100110142-100110143	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs2306097	chr9:100110179-100110180	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs541875588	chr9:100110197-100110198	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs2306096	chr9:100110225-100110226	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs575585370	chr9:100110310-100110311	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs139557145	chr9:100110356-100110357	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs369967922	chr9:100110376-100110377	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs10981724	chr9:100110396-100110397	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs373588258	chr9:100110402-100110403	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs370978782	chr9:100110403-100110404	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs78114535	chr9:100110404-100110405	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs529163996	chr9:100110410-100110411	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs5899305	chr9:100110411-100110412	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs1462086	chr9:100110484-100110485	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs546933949	chr9:100110566-100110567	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs561826950	chr9:100110568-100110569	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs373857109	chr9:100110579-100110580	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs529146676	chr9:100110664-100110665	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs529208371	chr9:100110686-100110687	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs151191397	chr9:100110697-100110698	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs568891973	chr9:100110746-100110747	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs541307642	chr9:100110772-100110773	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs367710068	chr9:100110873-100110874	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs559516439	chr9:100110878-100110879	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs188072683	chr9:100110915-100110916	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs373434361	chr9:100110996-100110997	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs143568309	chr9:100111004-100111005	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs553256104	chr9:100111032-100111033	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs574690790	chr9:100111037-100111038	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs551534035	chr9:100111091-100111092	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs371316800	chr9:100111107-100111108	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs147169031	chr9:100111168-100111169	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs575680246	chr9:100111198-100111199	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs116662761	chr9:100111199-100111200	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs370760371	chr9:100111250-100111251	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs557834271	chr9:100111316-100111317	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs573201360	chr9:100111335-100111336	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs140268385	chr9:100111371-100111372	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs562000942	chr9:100111372-100111373	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs568789185	chr9:100111383-100111384	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs73561895	chr9:100111451-100111452	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs530899437	chr9:100111471-100111472	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs199966530	chr9:100111479-100111480	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Neurodevelopmental disorder	22521361	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100070000-100131400	Weak transcription	Fetal Kidney	kidney
2	chr9:100077000-100140800	Weak transcription	Fetal Brain Male	brain
3	chr9:100080400-100126400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr9:100083800-100124000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr9:100086400-100110400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr9:100086600-100121600	Weak transcription	Right Ventricle	heart
7	chr9:100086600-100132000	Weak transcription	Thymus	Thymus
8	chr9:100088000-100126200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr9:100088200-100127000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr9:100088600-100128600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr9:100088600-100132800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr9:100088800-100121400	Weak transcription	Gastric	stomach
13	chr9:100089200-100128200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr9:100090600-100119000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr9:100090600-100133800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr9:100091600-100149200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr9:100093000-100111000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr9:100093000-100117000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr9:100093600-100122400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr9:100095600-100116800	Weak transcription	Brain Hippocampus Middle	brain
21	chr9:100099000-100132200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr9:100104400-100117000	Weak transcription	Colon Smooth Muscle	Colon
23	chr9:100104400-100118800	Weak transcription	Spleen	Spleen
24	chr9:100104400-100142000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr9:100104600-100110400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr9:100104600-100111000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr9:100104600-100118200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr9:100104600-100128200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr9:100104800-100116800	Weak transcription	Fetal Intestine Large	intestine
30	chr9:100105000-100111600	Weak transcription	Fetal Intestine Small	intestine
31	chr9:100105200-100111000	Weak transcription	Lung	lung
32	chr9:100105200-100120800	Weak transcription	Psoas Muscle	Psoas
33	chr9:100105400-100127600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr9:100105800-100128000	Weak transcription	Brain Substantia Nigra	brain
35	chr9:100106400-100110200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr9:100106400-100118000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr9:100106800-100117200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr9:100106800-100128000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr9:100106800-100143200	Weak transcription	Liver	Liver
40	chr9:100107000-100110000	Weak transcription	Primary T cells from cord blood	blood
41	chr9:100107000-100117000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr9:100107000-100131400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr9:100107200-100112000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr9:100107200-100115600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr9:100107200-100117000	Weak transcription	Left Ventricle	heart
46	chr9:100107200-100130200	Weak transcription	Fetal Lung	lung
47	chr9:100107200-100138400	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr9:100107800-100117200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr9:100108000-100148200	Weak transcription	Esophagus	oesophagus
50	chr9:100108800-100110800	Weak transcription	Fetal Brain Female	brain

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