Variant report

Variant	esv3358675
Chromosome Location	chr11:32960425-32981454
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:70)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:70 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:32975953-32975956	K562	blood:	n/a	n/a
2	CEBPB	chr11:32969471-32969631	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr11:32969356-32969742	A549	lung:	n/a	n/a
4	CEBPB	chr11:32969345-32969694	K562	blood:	n/a	n/a
5	CEBPB	chr11:32969442-32969634	A549	lung:	n/a	n/a
6	CEBPB	chr11:32969395-32969687	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr11:32967960-32968110	AG04449	skin:	n/a	n/a
8	CTCF	chr11:32961745-32961811	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr11:32968049-32968109	A549	lung:	n/a	n/a
10	CTCF	chr11:32968018-32968129	MCF-7	breast:	n/a	n/a
11	CTCF	chr11:32967960-32968110	HepG2	liver:	n/a	n/a
12	CTCF	chr11:32981389-32981400	A549	lung:	n/a	n/a
13	CTCF	chr11:32968034-32968107	MCF-7	breast:	n/a	n/a
14	CTCF	chr11:32967980-32968130	NHLF	lung:	n/a	n/a
15	EBF1	chr11:32961514-32961728	GM12878	blood:	n/a	chr11:32961562-32961573
16	EP300	chr11:32969603-32969798	SK-N-SH_RA	brain:	n/a	chr11:32969648-32969662
17	EP300	chr11:32969577-32969871	SK-N-SH_RA	brain:	n/a	chr11:32969648-32969662
18	FOXA1	chr11:32968238-32968500	HepG2	liver:	n/a	n/a
19	FOXA2	chr11:32968136-32968464	A549	lung:	n/a	n/a
20	FOXA2	chr11:32967984-32968617	A549	lung:	n/a	n/a
21	FOXA2	chr11:32978373-32978928	A549	lung:	n/a	n/a
22	GATA2	chr11:32969993-32970234	HUVEC	blood vessel:	n/a	n/a
23	GATA2	chr11:32969984-32970276	SH-SY5Y	brain:	n/a	n/a
24	GATA3	chr11:32976706-32976878	SH-SY5Y	brain:	n/a	n/a
25	GATA3	chr11:32969999-32970265	MCF-7	breast:	n/a	n/a
26	GATA3	chr11:32979668-32979776	SH-SY5Y	brain:	n/a	n/a
27	GATA3	chr11:32970127-32970455	SH-SY5Y	brain:	n/a	n/a
28	IRF1	chr11:32972857-32972858	K562	blood:	n/a	n/a
29	IRF1	chr11:32969543-32969872	K562	blood:	n/a	n/a
30	MXI1	chr11:32975179-32975294	GM12878	blood:	n/a	n/a
31	MXI1	chr11:32962490-32962733	GM12878	blood:	n/a	n/a
32	MYC	chr11:32968077-32968107	MCF-7	breast:	n/a	n/a
33	MYC	chr11:32968098-32968133	HUVEC	blood vessel:	n/a	n/a
34	PBX3	chr11:32969546-32969959	SK-N-SH	brain:	n/a	n/a
35	PBX3	chr11:32969486-32970056	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr11:32970028-32970145	Gliobla	brain:	n/a	n/a
37	POLR2A	chr11:32968362-32968493	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr11:32970442-32970604	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr11:32969448-32969585	K562	blood:	n/a	n/a
40	POLR2A	chr11:32965286-32965406	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr11:32968343-32968497	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr11:32961705-32961883	K562	blood:	n/a	n/a
43	POLR2A	chr11:32972883-32972891	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr11:32978351-32978423	A549	lung:	n/a	n/a
45	POLR2A	chr11:32968084-32968090	A549	lung:	n/a	n/a
46	POLR2A	chr11:32968088-32968111	Gliobla	brain:	n/a	n/a
47	POLR2A	chr11:32970006-32970225	K562	blood:	n/a	n/a
48	POLR2A	chr11:32968091-32968108	MCF-7	breast:	n/a	n/a
49	POLR2A	chr11:32971271-32971711	K562	blood:	n/a	n/a
50	REST	chr11:32965280-32965412	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:32914058..32916371-chr11:32975765..32977557,2	MCF-7	breast:
2	chr11:32915892..32917470-chr11:32980726..32982282,2	K562	blood:
3	chr11:32970671..32972775-chr11:32979842..32982658,2	K562	blood:
4	chr11:32970671..32972775-chr11:32979842..32982658,2	K562	blood:
5	chr11:32921334..32923209-chr11:32959403..32961555,2	K562	blood:
6	chr11:32955247..32956983-chr11:32962122..32964180,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CSTF3-1	chr11:32978271-32978312	NONHSAT018681
2	lnc-CSTF3-1	chr11:32977870-32978000	NONHSAT018681

No data

Variant related genes	Relation type
QSER1	TF binding region
ENSG00000060749	chromatin interactions

Extended variants
information (count: 577 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:577 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146091251	chr11:32960559-32960560	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs562707779	chr11:32960613-32960614	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs138914979	chr11:32960675-32960676	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs543134763	chr11:32960682-32960683	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs185301146	chr11:32960822-32960823	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs73474600	chr11:32960937-32960938	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs149497772	chr11:32960966-32960967	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs188451555	chr11:32960997-32960998	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs4756373	chr11:32961045-32961046	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs149703864	chr11:32961068-32961069	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142925274	chr11:32961097-32961098	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147245463	chr11:32961186-32961187	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111820089	chr11:32961193-32961194	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116399997	chr11:32961244-32961245	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7117497	chr11:32961334-32961335	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs148308822	chr11:32961351-32961352	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141445621	chr11:32961371-32961372	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568989728	chr11:32961442-32961443	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35359579	chr11:32961494-32961495	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35562801	chr11:32961504-32961505	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572685488	chr11:32961514-32961515	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs57098672	chr11:32961515-32961516	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116965488	chr11:32961672-32961673	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181887734	chr11:32961717-32961718	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571344346	chr11:32961746-32961747	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150851511	chr11:32961801-32961802	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs78421564	chr11:32961853-32961854	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs187327971	chr11:32961890-32961891	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs536260573	chr11:32961903-32961904	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs529513076	chr11:32961978-32961979	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs547642782	chr11:32961998-32961999	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs139342944	chr11:32962010-32962011	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs144415452	chr11:32962022-32962023	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs559434698	chr11:32962039-32962040	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs146133681	chr11:32962063-32962064	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs533040041	chr11:32962149-32962150	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs572210785	chr11:32962154-32962155	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs572534306	chr11:32962214-32962215	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs541741065	chr11:32962235-32962236	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs73476603	chr11:32962242-32962243	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs530384381	chr11:32962243-32962244	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs542655370	chr11:32962249-32962250	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs567576454	chr11:32962276-32962277	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs77492178	chr11:32962283-32962284	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs531474098	chr11:32962327-32962328	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs551485236	chr11:32962374-32962375	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs113804025	chr11:32962439-32962440	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs531788528	chr11:32962446-32962447	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs571447617	chr11:32962471-32962472	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs140169877	chr11:32962618-32962619	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	22286061	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:493 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32948400-32962000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:32948400-32963200	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr11:32950200-32968000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr11:32950400-32962600	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr11:32950400-32994400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:32951000-32962200	Strong transcription	Dnd41	blood
7	chr11:32951200-32962600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr11:32951400-32960600	Strong transcription	Hela-S3	cervix
9	chr11:32951600-32963200	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr11:32951800-32960600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr11:32952000-32963200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:32952200-32962600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:32952400-32968000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:32952600-32961800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:32952800-32962000	Strong transcription	Primary B cells from cord blood	blood
16	chr11:32952800-32963200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:32953800-32978400	Weak transcription	Fetal Intestine Small	intestine
18	chr11:32954000-32968000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:32954200-32968000	Weak transcription	Fetal Stomach	stomach
20	chr11:32954400-32962000	Weak transcription	Brain Angular Gyrus	brain
21	chr11:32954600-32971400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:32954600-32990200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:32954800-32961200	Weak transcription	Aorta	Aorta
24	chr11:32954800-32968000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:32955000-32968600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr11:32955200-32961000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr11:32955200-32961600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr11:32955200-32962400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr11:32955400-32994200	Weak transcription	Gastric	stomach
30	chr11:32955400-32994400	Weak transcription	Esophagus	oesophagus
31	chr11:32955600-32961200	Weak transcription	Small Intestine	intestine
32	chr11:32955600-32961400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr11:32955600-32968000	Weak transcription	Pancreas	Pancrea
34	chr11:32955600-32987200	Weak transcription	Right Ventricle	heart
35	chr11:32955600-33000800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:32955600-33003800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr11:32955800-32961200	Weak transcription	Ovary	ovary
38	chr11:32956000-32975400	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr11:32956200-32961600	Weak transcription	Fetal Heart	heart
40	chr11:32956200-32979400	Weak transcription	Colon Smooth Muscle	Colon
41	chr11:32956200-32994200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:32956800-32961400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr11:32956800-32968000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:32956800-32968000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:32956800-32968000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr11:32956800-32975400	Weak transcription	Lung	lung
47	chr11:32956800-32975400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr11:32956800-32975400	Weak transcription	NHEK	skin
49	chr11:32956800-32977800	Weak transcription	Left Ventricle	heart
50	chr11:32956800-32977800	Weak transcription	Thymus	Thymus

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