Variant report

Variant	esv3459086
Chromosome Location	chr11:32611095-32615504
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:115)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:115 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:32615353-32615518	T-47D	breast:	n/a	n/a
2	E2F4	chr11:32612416-32612616	MCF10A-Er-Src	breast:	n/a	n/a
3	EP300	chr11:32612843-32612977	GM12878	blood:	n/a	n/a
4	GATA3	chr11:32611464-32611655	SH-SY5Y	brain:	n/a	n/a
5	GATA3	chr11:32611949-32612149	SH-SY5Y	brain:	n/a	chr11:32611961-32611968
6	MAZ	chr11:32613382-32613467	Hela-S3	cervix:	n/a	n/a
7	NFE2	chr11:32614833-32614837	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:32613982-32614671	GM12891	blood:	n/a	n/a
9	POLR2A	chr11:32613303-32614569	GM12891	blood:	n/a	n/a
10	POLR2A	chr11:32611870-32611888	MCF-7	breast:	n/a	n/a
11	POLR2A	chr11:32615367-32615798	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:32611504-32612229	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:32615400-32615456	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:32611767-32612239	SK-N-MC	brain:	n/a	n/a
15	POLR2A	chr11:32612547-32612752	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr11:32611836-32612276	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:32611947-32612295	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr11:32611766-32611904	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr11:32612984-32614661	GM12892	blood:	n/a	n/a
20	POLR2A	chr11:32614010-32614215	GM12891	blood:	n/a	n/a
21	POLR2A	chr11:32611855-32612270	K562	blood:	n/a	n/a
22	POLR2A	chr11:32613012-32614772	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:32611956-32612009	MCF-7	breast:	n/a	n/a
24	POLR2A	chr11:32612616-32612809	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr11:32611875-32612253	K562	blood:	n/a	n/a
26	POLR2A	chr11:32613497-32613877	K562	blood:	n/a	n/a
27	POLR2A	chr11:32613007-32613243	GM12891	blood:	n/a	n/a
28	POLR2A	chr11:32613228-32614562	K562	blood:	n/a	n/a
29	POLR2A	chr11:32614240-32614565	K562	blood:	n/a	n/a
30	POLR2A	chr11:32611053-32611167	HepG2	liver:	n/a	n/a
31	POLR2A	chr11:32612525-32612914	GM12892	blood:	n/a	n/a
32	POLR2A	chr11:32613435-32613728	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr11:32613576-32613598	MCF-7	breast:	n/a	n/a
34	POLR2A	chr11:32612960-32614649	GM12892	blood:	n/a	n/a
35	POLR2A	chr11:32614211-32614595	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr11:32613075-32613438	K562	blood:	n/a	n/a
37	POLR2A	chr11:32613038-32613294	HepG2	liver:	n/a	n/a
38	POLR2A	chr11:32613046-32614675	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr11:32614859-32615241	GM12891	blood:	n/a	n/a
40	POLR2A	chr11:32615462-32615528	MCF-7	breast:	n/a	n/a
41	POLR2A	chr11:32613276-32614681	GM12878	blood:	n/a	n/a
42	POLR2A	chr11:32612583-32612777	HepG2	liver:	n/a	n/a
43	POLR2A	chr11:32613707-32613744	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr11:32614194-32614230	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr11:32613468-32613657	GM12878	blood:	n/a	n/a
46	POLR2A	chr11:32611376-32611736	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr11:32614033-32614660	K562	blood:	n/a	n/a
48	POLR2A	chr11:32611946-32612238	GM12892	blood:	n/a	n/a
49	POLR2A	chr11:32615113-32615839	GM12892	blood:	n/a	n/a
50	POLR2A	chr11:32613557-32614136	Hela-S3	cervix:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:32455462..32457058-chr11:32608687..32611459,2	K562	blood:
2	chr11:32605376..32607127-chr11:32609129..32611535,2	MCF-7	breast:
3	chr11:32455134..32460391-chr11:32603988..32611641,10	K562	blood:
4	chr11:32605232..32608580-chr11:32610157..32613118,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC73-3	chr11:32613339-32614317	NONHSAT018672

No data

Variant related genes	Relation type
EIF3M	TF binding region
HNRNPA3P9	TF binding region
ENSG00000184937	chromatin interactions
ENSG00000149100	chromatin interactions
ENSG00000183242	chromatin interactions

Extended variants
information (count: 156 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:156 , 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	rs144431265	chr11:32611121-32611122	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs199616525	chr11:32611130-32611131	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs11557142	chr11:32611144-32611145	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs574209110	chr11:32611276-32611277	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs376921814	chr11:32611282-32611283	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs543237185	chr11:32611291-32611292	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs563526622	chr11:32611300-32611301	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs532299093	chr11:32611347-32611348	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs371959030	chr11:32611349-32611350	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs552483291	chr11:32611351-32611352	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs559692746	chr11:32611356-32611357	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs528446499	chr11:32611362-32611363	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs374514740	chr11:32611434-32611435	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs568533625	chr11:32611524-32611525	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs568104463	chr11:32611587-32611588	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs189647288	chr11:32611646-32611647	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs537376644	chr11:32611685-32611686	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs550875536	chr11:32611768-32611769	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs571071814	chr11:32611811-32611812	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs182418116	chr11:32611814-32611815	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs12807989	chr11:32611835-32611836	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs573204747	chr11:32611876-32611877	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs534284149	chr11:32611888-32611889	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs374023368	chr11:32611939-32611940	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs553795265	chr11:32611942-32611943	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs554177712	chr11:32611991-32611992	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs574172872	chr11:32612001-32612002	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs146810626	chr11:32612003-32612004	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs563326354	chr11:32612090-32612091	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs201875	chr11:32612110-32612111	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs371300209	chr11:32612116-32612117	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs545681841	chr11:32612140-32612141	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs559660412	chr11:32612154-32612155	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs141892272	chr11:32612187-32612188	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs371368026	chr11:32612193-32612194	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs548589253	chr11:32612248-32612249	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs373828340	chr11:32612253-32612254	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs562095474	chr11:32612260-32612261	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs79333984	chr11:32612316-32612317	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs551095486	chr11:32612330-32612331	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs187022036	chr11:32612340-32612341	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs539976875	chr11:32612341-32612342	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs576171115	chr11:32612386-32612387	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs143418181	chr11:32612392-32612393	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs531938787	chr11:32612398-32612399	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs191099458	chr11:32612410-32612411	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs546804660	chr11:32612436-32612437	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs12277746	chr11:32612476-32612477	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs180753805	chr11:32612484-32612485	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs367629144	chr11:32612510-32612511	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32606800-32611400	Weak transcription	Esophagus	oesophagus
2	chr11:32606800-32611400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:32606800-32611400	Weak transcription	Stomach Mucosa	stomach
4	chr11:32606800-32613400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:32606800-32613400	Weak transcription	Aorta	Aorta
6	chr11:32606800-32616000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:32607000-32611400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr11:32607000-32617000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:32607200-32612000	Weak transcription	Brain Angular Gyrus	brain
10	chr11:32607800-32613200	Weak transcription	Small Intestine	intestine
11	chr11:32607800-32621200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:32607800-32628400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:32608200-32619400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:32608400-32611400	Weak transcription	Colon Smooth Muscle	Colon
15	chr11:32608400-32612000	Weak transcription	Psoas Muscle	Psoas
16	chr11:32608400-32616200	Genic enhancers	Primary monocytes fromperipheralblood	blood
17	chr11:32608400-32619000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:32608400-32619400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:32608400-32619400	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr11:32608400-32628200	Strong transcription	HSMM	muscle
21	chr11:32608600-32617000	Strong transcription	A549	lung
22	chr11:32608600-32618400	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:32608600-32619400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr11:32608600-32628400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:32608800-32628000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:32609000-32628200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:32609000-32629600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:32609200-32623400	Strong transcription	Hela-S3	cervix
29	chr11:32609200-32623800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:32609400-32618400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:32609400-32630200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:32609600-32612800	Strong transcription	Fetal Intestine Small	intestine
33	chr11:32609600-32618600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:32609600-32618600	Strong transcription	Fetal Stomach	stomach
35	chr11:32609800-32617800	Strong transcription	HepG2	liver
36	chr11:32609800-32617800	Strong transcription	K562	blood
37	chr11:32609800-32619800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:32609800-32626000	Strong transcription	NHDF-Ad	bronchial
39	chr11:32609800-32628000	Strong transcription	Fetal Thymus	thymus
40	chr11:32610000-32611600	Strong transcription	HMEC	breast
41	chr11:32610000-32616000	Strong transcription	Fetal Kidney	kidney
42	chr11:32610000-32616000	Strong transcription	NHLF	lung
43	chr11:32610000-32616200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:32610000-32616400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
45	chr11:32610000-32617200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
46	chr11:32610000-32617200	Strong transcription	NHEK	skin
47	chr11:32610000-32618600	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr11:32610000-32618600	Strong transcription	Rectal Smooth Muscle	rectum
49	chr11:32610000-32618800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:32610000-32619200	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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