Variant report

Variant	esv3334676
Chromosome Location	chr11:121425342-121428840
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	ATF2	chr11:121427667-121428670	GM12878	blood:	n/a	n/a
2	ATF2	chr11:121427646-121428865	GM12878	blood:	n/a	n/a
3	BATF	chr11:121428018-121428415	GM12878	blood:	n/a	n/a
4	BATF	chr11:121428063-121428433	GM12878	blood:	n/a	n/a
5	BCL11A	chr11:121428012-121428485	GM12878	blood:	n/a	n/a
6	BCL11A	chr11:121428003-121428407	GM12878	blood:	n/a	n/a
7	BCL3	chr11:121427895-121428498	GM12878	blood:	n/a	n/a
8	BCLAF1	chr11:121427794-121428671	GM12878	blood:	n/a	n/a
9	BHLHE40	chr11:121427958-121428527	GM12878	blood:	n/a	n/a
10	CEBPB	chr11:121427603-121427670	HepG2	liver:	n/a	n/a
11	CTCF	chr11:121427869-121427874	GM19239	blood:	n/a	n/a
12	CTCF	chr11:121427882-121427926	GM19239	blood:	n/a	n/a
13	CUX1	chr11:121427859-121428746	GM12878	blood:	n/a	n/a
14	EBF1	chr11:121427919-121428642	GM12878	blood:	n/a	chr11:121428102-121428113
15	EBF1	chr11:121427866-121428501	GM12878	blood:	n/a	chr11:121428102-121428113
16	EBF1	chr11:121427894-121428453	GM12878	blood:	n/a	chr11:121428102-121428113
17	EP300	chr11:121428038-121428572	GM12878	blood:	n/a	chr11:121428129-121428138
18	EP300	chr11:121427972-121428511	GM12878	blood:	n/a	chr11:121428129-121428138
19	EP300	chr11:121425967-121426198	SK-N-SH_RA	brain:	n/a	n/a
20	EP300	chr11:121425924-121426247	SK-N-SH_RA	brain:	n/a	n/a
21	FOXM1	chr11:121427815-121428683	GM12878	blood:	n/a	n/a
22	FOXM1	chr11:121427963-121428677	GM12878	blood:	n/a	n/a
23	GATA2	chr11:121425382-121426189	SH-SY5Y	brain:	n/a	n/a
24	GATA3	chr11:121425430-121425808	SH-SY5Y	brain:	n/a	n/a
25	IKZF1	chr11:121428033-121428607	GM12878	blood:	n/a	n/a
26	IRF4	chr11:121427963-121428432	GM12878	blood:	n/a	n/a
27	MEF2A	chr11:121428011-121428555	GM12878	blood:	n/a	n/a
28	MTA3	chr11:121427377-121428627	GM12878	blood:	n/a	n/a
29	NFATC1	chr11:121427850-121428532	GM12878	blood:	n/a	n/a
30	NFATC1	chr11:121427859-121428565	GM12878	blood:	n/a	n/a
31	NFIC	chr11:121427844-121428815	GM12878	blood:	n/a	n/a
32	NFIC	chr11:121427861-121428659	GM12878	blood:	n/a	n/a
33	NRF1	chr11:121427991-121428116	GM12878	blood:	n/a	n/a
34	PAX5	chr11:121427823-121428545	GM12878	blood:	n/a	n/a
35	PAX5	chr11:121427905-121428423	GM12878	blood:	n/a	n/a
36	PAX5	chr11:121427985-121428420	GM12878	blood:	n/a	n/a
37	PAX5	chr11:121428097-121428371	GM12878	blood:	n/a	n/a
38	PBX3	chr11:121428203-121428411	GM12878	blood:	n/a	n/a
39	PML	chr11:121427889-121428615	GM12878	blood:	n/a	n/a
40	POLR2A	chr11:121425939-121426041	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr11:121426546-121426819	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr11:121427788-121427953	GM12878	blood:	n/a	n/a
43	POLR2A	chr11:121426846-121427407	GM12878	blood:	n/a	n/a
44	POLR2A	chr11:121427937-121428584	GM12878	blood:	n/a	n/a
45	POLR2A	chr11:121427413-121427600	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr11:121427233-121427770	GM12878	blood:	n/a	n/a
47	POLR2A	chr11:121427083-121427775	HepG2	liver:	n/a	n/a
48	POLR2A	chr11:121426978-121427222	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr11:121426434-121426634	GM12878	blood:	n/a	n/a
50	POU2F2	chr11:121427944-121428522	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
SORL1	TF binding region

Extended variants
information (count: 140 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77718012	chr11:121425358-121425359	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs554914604	chr11:121425359-121425360	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs573456165	chr11:121425360-121425361	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs572595892	chr11:121425494-121425495	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs540767091	chr11:121425625-121425626	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs376210793	chr11:121425637-121425638	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs565395846	chr11:121425639-121425640	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs148432748	chr11:121425646-121425647	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs113142714	chr11:121425661-121425662	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs562860885	chr11:121425675-121425676	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs530754074	chr11:121425688-121425689	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs549256069	chr11:121425702-121425703	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs113631781	chr11:121425822-121425823	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs147621692	chr11:121425827-121425828	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs185626292	chr11:121425828-121425829	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs77361418	chr11:121425851-121425852	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs377106386	chr11:121425881-121425882	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs368227032	chr11:121425890-121425891	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs372764840	chr11:121425897-121425898	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs377222446	chr11:121425939-121425940	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs78274293	chr11:121425955-121425956	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs536574300	chr11:121425991-121425992	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs201992414	chr11:121426011-121426012	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs140499624	chr11:121426036-121426037	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs573544381	chr11:121426041-121426042	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs6589885	chr11:121426042-121426043	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs144369958	chr11:121426097-121426098	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs577276286	chr11:121426099-121426100	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs544683121	chr11:121426147-121426148	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs188957680	chr11:121426185-121426186	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs556349	chr11:121426207-121426208	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs151223453	chr11:121426254-121426255	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs560861942	chr11:121426291-121426292	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs192500850	chr11:121426311-121426312	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140374072	chr11:121426358-121426359	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200328292	chr11:121426391-121426392	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140677876	chr11:121426392-121426393	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150197606	chr11:121426411-121426412	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183742516	chr11:121426430-121426431	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145701636	chr11:121426431-121426432	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373632261	chr11:121426451-121426452	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs188117368	chr11:121426464-121426465	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs148962585	chr11:121426476-121426477	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs554577659	chr11:121426491-121426492	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs118042076	chr11:121426497-121426498	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs145689476	chr11:121426530-121426531	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs559235439	chr11:121426561-121426562	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs577364588	chr11:121426566-121426567	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs181285357	chr11:121426573-121426574	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs184047081	chr11:121426580-121426581	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	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
Squamous cell cancer	20885788	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Hepatocellular carcinoma	16750200	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21385341	CNVD
Multiple myeloma	16461302	CNVD
Burkitt''s lymphoma	18698080	CNVD
Prostate cancer	23792589	CNVD
Effusion lymphoma	18079361	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Oral squamous cell carcinoma	17134496	CNVD

Chromatin state (count:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121391400-121437200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:121395200-121434800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:121396400-121445000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr11:121396600-121437600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr11:121396800-121425400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:121397000-121434800	Weak transcription	Fetal Kidney	kidney
7	chr11:121399000-121443200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr11:121404600-121437200	Weak transcription	Lung	lung
9	chr11:121405600-121437400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr11:121407200-121459000	Weak transcription	Colon Smooth Muscle	Colon
11	chr11:121411800-121433600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:121412800-121435200	Weak transcription	Small Intestine	intestine
13	chr11:121413600-121429400	Weak transcription	Left Ventricle	heart
14	chr11:121414000-121433600	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr11:121414000-121452400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:121416200-121429200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:121416400-121427400	Strong transcription	Primary hematopoietic stem cells	blood
18	chr11:121416400-121433600	Strong transcription	Primary B cells from peripheral blood	blood
19	chr11:121416400-121451800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:121416600-121427200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:121416600-121471800	Strong transcription	Primary T cells from cord blood	blood
22	chr11:121416800-121425400	Weak transcription	Colonic Mucosa	Colon
23	chr11:121417000-121426600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:121417000-121426600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr11:121417000-121427600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr11:121417000-121452400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr11:121417200-121426600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:121417600-121425600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr11:121417600-121433400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
30	chr11:121417600-121452400	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr11:121417800-121427400	Weak transcription	Aorta	Aorta
32	chr11:121417800-121434000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:121417800-121439000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr11:121418000-121426600	Weak transcription	Brain Angular Gyrus	brain
35	chr11:121418000-121451800	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr11:121418400-121425600	Weak transcription	Fetal Stomach	stomach
37	chr11:121418600-121427400	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr11:121419200-121427200	Weak transcription	Right Atrium	heart
39	chr11:121420600-121426000	Strong transcription	Dnd41	blood
40	chr11:121420600-121432600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr11:121420600-121433200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr11:121420600-121433400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:121420600-121433600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr11:121421000-121433000	Strong transcription	Primary B cells from cord blood	blood
45	chr11:121421400-121429400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr11:121421600-121426000	Weak transcription	Thymus	Thymus
47	chr11:121421600-121426400	Weak transcription	Esophagus	oesophagus
48	chr11:121421600-121429000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:121422400-121437600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr11:121422600-121426400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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