Variant report

Variant	esv3327475
Chromosome Location	chr11:120312410-120317541
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:120312779-120313012	IMR90	lung:	n/a	n/a
2	CTCF	chr11:120316471-120316562	Fibrobl	skin:	n/a	n/a
3	E2F4	chr11:120314693-120315283	MCF10A-Er-Src	breast:	n/a	n/a
4	EP300	chr11:120314834-120314959	K562	blood:	n/a	n/a
5	GATA3	chr11:120315583-120315708	SH-SY5Y	brain:	n/a	n/a
6	MAFK	chr11:120312674-120312800	HepG2	liver:	n/a	n/a
7	MAFK	chr11:120312667-120312862	HepG2	liver:	n/a	n/a
8	MYC	chr11:120314759-120314771	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr11:120314409-120314458	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr11:120312756-120312774	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr11:120317367-120317446	K562	blood:	n/a	n/a
12	POLR2A	chr11:120312556-120312726	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr11:120314637-120314698	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:120311224..120316272-chr11:120317740..120322611,5	K562	blood:
2	chr11:120314640..120316272-chr11:120319708..120321495,2	K562	blood:
3	chr11:120310007..120311721-chr11:120311814..120314080,2	MCF-7	breast:

No data

Variant related genes	Relation type
ARHGEF12	TF binding region
ENSG00000196914	chromatin interactions

Extended variants
information (count: 200 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:200 , 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	rs185166241	chr11:120312418-120312419	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs200373182	chr11:120312465-120312466	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs570393469	chr11:120312485-120312486	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs201154885	chr11:120312496-120312497	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs374946774	chr11:120312554-120312555	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs536110126	chr11:120312562-120312563	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs190321860	chr11:120312632-120312633	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs181376917	chr11:120312725-120312726	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs723937	chr11:120312746-120312747	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs186461794	chr11:120312764-120312765	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs372911117	chr11:120312781-120312782	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs376369757	chr11:120312844-120312845	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs199633497	chr11:120312864-120312865	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs200039833	chr11:120312872-120312873	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs149290656	chr11:120312928-120312929	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs374396435	chr11:120312947-120312948	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs191757165	chr11:120312968-120312969	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs147435383	chr11:120312990-120312991	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs576355222	chr11:120313052-120313053	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs199708925	chr11:120313056-120313057	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs74236021	chr11:120313067-120313068	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs561829628	chr11:120313136-120313137	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs375369275	chr11:120313137-120313138	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs7117285	chr11:120313138-120313139	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs199770069	chr11:120313140-120313141	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs541621007	chr11:120313142-120313143	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs200913803	chr11:120313164-120313165	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs2077483	chr11:120313166-120313167	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs201717852	chr11:120313172-120313173	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs370872835	chr11:120313173-120313174	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs61900817	chr11:120313174-120313175	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs564253059	chr11:120313181-120313182	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs3074753	chr11:120313189-120313190	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs3074756	chr11:120313191-120313192	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs143727098	chr11:120313259-120313260	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs188792262	chr11:120313346-120313347	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs537609890	chr11:120313378-120313379	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs112101775	chr11:120313382-120313383	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs535499202	chr11:120313384-120313385	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs556639898	chr11:120313533-120313534	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs747419	chr11:120313539-120313540	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs147467849	chr11:120313570-120313571	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs558405636	chr11:120313619-120313620	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs148497080	chr11:120313635-120313636	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs537036573	chr11:120313650-120313651	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs34663650	chr11:120313673-120313674	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs372859253	chr11:120313674-120313675	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs142872203	chr11:120313682-120313683	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs573700708	chr11:120313705-120313706	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs371200953	chr11:120313730-120313731	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Emanuel syndrome	21549014	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Ovarian neoplasms	16753589	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Retinoblastoma	22278416	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Squamous cell cancer	20885788	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Neurocytoma	17123091	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Central neurocytomas	17123091	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Hepatocellular carcinoma	16750200	CNVD
Multiple myeloma	17550852	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Acute myeloid leukemia	19651601	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	20409316	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	22543975	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Barrett''s syndrome	19417022	CNVD

Chromatin state (count:216 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120272200-120315600	Weak transcription	Brain Germinal Matrix	brain
2	chr11:120272200-120315800	Weak transcription	Brain Hippocampus Middle	brain
3	chr11:120272400-120320600	Weak transcription	Psoas Muscle	Psoas
4	chr11:120275600-120322200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:120275800-120314000	Weak transcription	Right Ventricle	heart
6	chr11:120277600-120319800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:120285600-120319800	Weak transcription	Gastric	stomach
8	chr11:120290400-120313400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:120291800-120319200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr11:120292000-120315400	Weak transcription	Colonic Mucosa	Colon
11	chr11:120294000-120316000	Weak transcription	Primary B cells from cord blood	blood
12	chr11:120295400-120318600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr11:120296000-120315800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr11:120296000-120316200	Weak transcription	Esophagus	oesophagus
15	chr11:120296000-120316400	Weak transcription	Lung	lung
16	chr11:120296000-120317600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr11:120296200-120315400	Weak transcription	Fetal Brain Male	brain
18	chr11:120301400-120355200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:120302600-120316200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:120302800-120317400	Weak transcription	Small Intestine	intestine
21	chr11:120303000-120312600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr11:120303000-120313400	Weak transcription	Ovary	ovary
23	chr11:120303000-120317000	Weak transcription	K562	blood
24	chr11:120303000-120317400	Weak transcription	Pancreas	Pancrea
25	chr11:120303000-120319400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr11:120303200-120312600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:120303200-120312600	Weak transcription	Brain Substantia Nigra	brain
28	chr11:120303200-120312600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr11:120303200-120312800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr11:120303400-120312800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr11:120303400-120312800	Weak transcription	Fetal Brain Female	brain
32	chr11:120303600-120312800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:120303600-120313000	Weak transcription	Colon Smooth Muscle	Colon
34	chr11:120303600-120313800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr11:120303600-120314000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:120303600-120319000	Weak transcription	HMEC	breast
37	chr11:120303600-120355600	Weak transcription	Stomach Mucosa	stomach
38	chr11:120303800-120315800	Weak transcription	Fetal Heart	heart
39	chr11:120303800-120319000	Weak transcription	Hela-S3	cervix
40	chr11:120303800-120328000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:120304400-120323200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:120304600-120329800	Strong transcription	HSMM	muscle
43	chr11:120304800-120316400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:120304800-120359400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:120305400-120313800	Weak transcription	A549	lung
46	chr11:120306600-120341200	Strong transcription	Osteobl	bone
47	chr11:120306800-120319800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:120306800-120341600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:120307000-120335800	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr11:120307000-120341200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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