Variant report

Variant	esv3424973
Chromosome Location	chr11:32633425-32664062
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:203)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:203 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:32635097-32635414	HepG2	liver:	n/a	n/a
2	ATF2	chr11:32635247-32635841	GM12878	blood:	n/a	n/a
3	BACH1	chr11:32641614-32641642	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr11:32635232-32635737	GM12878	blood:	n/a	n/a
5	BHLHE40	chr11:32635494-32635670	GM12878	blood:	n/a	n/a
6	BHLHE40	chr11:32635263-32635283	GM12878	blood:	n/a	n/a
7	CTCF	chr11:32636923-32637317	MCF-7	breast:	n/a	n/a
8	CTCF	chr11:32637080-32637261	Spleen_OC	spleen:	n/a	n/a
9	CTCF	chr11:32637160-32637310	HCFaa	heart:	n/a	n/a
10	CTCF	chr11:32637100-32637250	GM12873	blood:	n/a	n/a
11	CTCF	chr11:32637100-32637250	HRPEpiC	eye:	n/a	n/a
12	CTCF	chr11:32637120-32637410	BJ	skin:	n/a	n/a
13	CTCF	chr11:32637040-32637190	HCM	heart:	n/a	n/a
14	CTCF	chr11:32637081-32637266	LNCaP	prostate:	n/a	n/a
15	CTCF	chr11:32637160-32637310	GM12868	blood:	n/a	n/a
16	CTCF	chr11:32637078-32637279	K562	blood:	n/a	n/a
17	CTCF	chr11:32637140-32637290	SAEC	small airway:	n/a	n/a
18	CTCF	chr11:32636839-32637480	HCT-116	colon:	n/a	n/a
19	CTCF	chr11:32637097-32637240	MCF-7	breast:	n/a	n/a
20	CTCF	chr11:32636846-32637440	A549	lung:	n/a	n/a
21	CTCF	chr11:32637040-32637190	HRE	kidney:	n/a	n/a
22	CTCF	chr11:32637035-32637263	T-47D	breast:	n/a	n/a
23	CTCF	chr11:32637100-32637250	NHLF	lung:	n/a	n/a
24	CTCF	chr11:32637080-32637230	GM12866	blood:	n/a	n/a
25	CTCF	chr11:32637095-32637245	HUVEC	blood vessel:	n/a	n/a
26	CTCF	chr11:32637073-32637264	HepG2	liver:	n/a	n/a
27	CTCF	chr11:32637020-32637170	AG09319	gingival:	n/a	n/a
28	CTCF	chr11:32637120-32637270	HBMEC	blood vessel:	n/a	n/a
29	CTCF	chr11:32637180-32637330	NB4	blood:	n/a	n/a
30	CTCF	chr11:32637120-32637270	RPTEC	kidney:	n/a	n/a
31	CTCF	chr11:32637100-32637250	HPF	lung:	n/a	n/a
32	CTCF	chr11:32637060-32637210	GM12869	blood:	n/a	n/a
33	CTCF	chr11:32637159-32637193	Pancreas_OC	pancreas:	n/a	n/a
34	CTCF	chr11:32637100-32637250	HEEpiC	esophagus:	n/a	n/a
35	CTCF	chr11:32637080-32637230	MCF-7	breast:	n/a	n/a
36	CTCF	chr11:32637120-32637270	AoAF	blood vessel:	n/a	n/a
37	CTCF	chr11:32637019-32637312	IMR90	lung:	n/a	n/a
38	CTCF	chr11:32637097-32637237	GM12878	blood:	n/a	n/a
39	CTCF	chr11:32637100-32637250	BE2_C	brain:	n/a	n/a
40	CTCF	chr11:32637118-32637259	LNCaP	prostate:	n/a	n/a
41	CTCF	chr11:32637060-32637210	GM12865	blood:	n/a	n/a
42	CTCF	chr11:32637080-32637230	GM12864	blood:	n/a	n/a
43	CTCF	chr11:32637140-32637290	AoAF	blood vessel:	n/a	n/a
44	CTCF	chr11:32637060-32637210	HMEC	breast:	n/a	n/a
45	CTCF	chr11:32637020-32637170	A549	lung:	n/a	n/a
46	CTCF	chr11:32644975-32645023	Fibrobl	skin:	n/a	n/a
47	CTCF	chr11:32637020-32637170	HUVEC	blood vessel:	n/a	n/a
48	CTCF	chr11:32637040-32637190	GM06990	blood:	n/a	n/a
49	CTCF	chr11:32637080-32637230	HepG2	liver:	n/a	n/a
50	CTCF	chr11:32637100-32637250	AG09319	gingival:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:32645557-32645607	GM12878	blood:	n/a
2	chr11:32645557-32645607	SKMC	muscle:	n/a
3	chr11:32645557-32645607	CMK	blood:	n/a
4	chr11:32645557-32645607	Hepatocyte	liver:	n/a
5	chr11:32645557-32645607	MCF10A-Er-Src	breast:	n/a
6	chr11:32645557-32645607	BE2_C	brain:	n/a
7	chr11:32645557-32645607	PANC-1	pancreas:	n/a
8	chr11:32645557-32645607	NHDF-neo	bronchial:	n/a
9	chr11:32645557-32645607	HCF	heart:	n/a
10	chr11:32645557-32645607	HCM	heart:	n/a
11	chr11:32645557-32645607	HCT-116	colon:	n/a
12	chr11:32645557-32645607	HPAEpiC	pulmonary alveolar:	n/a
13	chr11:32645557-32645607	GM19239	blood:	n/a
14	chr11:32645557-32645607	ovcar-3	ovarian:	n/a
15	chr11:32645557-32645607	LNCaP	prostate:	n/a
16	chr11:32645557-32645607	BJ	skin:	n/a
17	chr11:32645557-32645607	H1-hESC	embryonic stem cell:	embryo
18	chr11:32645557-32645607	MCF-7	breast:	n/a
19	chr11:32645557-32645607	HMEC	breast:	n/a
20	chr11:32645557-32645607	NB4	blood:	n/a
21	chr11:32645557-32645607	HCPEpiC	choroid plexus:	n/a
22	chr11:32645557-32645607	HUVEC	blood vessel:	n/a
23	chr11:32645557-32645607	HepG2	liver:	n/a
24	chr11:32645557-32645607	K562	blood:	n/a
25	chr11:32645557-32645607	AG10803	skin:	n/a
26	chr11:32645557-32645607	PFSK-1	brain:	n/a
27	chr11:32645557-32645607	GM12891	blood:	n/a
28	chr11:32645557-32645607	HEK293	kidney:	embryo
29	chr11:32645557-32645607	HAEpiC	amniotic membrane:	n/a
30	chr11:32645557-32645607	NT2-D1	testis:	n/a
31	chr11:32645557-32645607	HRPEpiC	eye:	n/a
32	chr11:32645557-32645607	SK-N-MC	brain:	n/a
33	chr11:32645557-32645607	Jurkat	blood:	n/a
34	chr11:32645557-32645607	HRE	kidney:	n/a
35	chr11:32645557-32645607	HIPEpiC	eye:	n/a
36	chr11:32645557-32645607	ECC-1	luminal epithelium:	n/a
37	chr11:32645557-32645607	AG04450	lung:	fetal
38	chr11:32645557-32645607	RPTEC	kidney:	n/a
39	chr11:32645557-32645607	AG09309	skin:	n/a
40	chr11:32645557-32645607	SAEC	small airway:	n/a
41	chr11:32645557-32645607	SK-N-SH	brain:	n/a
42	chr11:32645557-32645607	IMR90	lung:	fetal
43	chr11:32645557-32645607	AG09319	gingival:	n/a
44	chr11:32645557-32645607	NHBE	bronchial:	n/a
45	chr11:32645557-32645607	ProgFib	skin:	n/a
46	chr11:32645557-32645607	HEEpiC	esophagus:	n/a
47	chr11:32645557-32645607	GM06990	blood:	n/a
48	chr11:32645557-32645607	NH-A	brain:	n/a
49	chr11:32645557-32645607	HRCEpiC	kidney:	n/a
50	chr11:32645557-32645607	AG04449	skin:	fetal

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:32624676..32629824-chr11:32630493..32635209,8	K562	blood:
2	chr11:32395907..32396480-chr11:32636734..32637269,2	MCF-7	breast:
3	chr11:32344822..32345650-chr11:32636673..32637622,3	MCF-7	breast:
4	chr11:32659336..32661758-chr11:32663694..32666060,2	K562	blood:
5	chr11:32407234..32408158-chr11:32636750..32637629,2	MCF-7	breast:
6	chr11:32659336..32661758-chr11:32663694..32666060,2	K562	blood:
7	chr11:32604097..32606578-chr11:32633582..32635406,2	K562	blood:
8	chr11:32628200..32630785-chr11:32636529..32638264,2	K562	blood:
9	chr11:32472073..32474042-chr11:32651003..32653929,2	K562	blood:
10	chr11:32627731..32629834-chr11:32633041..32634679,2	K562	blood:
11	chr11:31826183..31828674-chr11:32652044..32654221,2	MCF-7	breast:

No data

Variant related genes	Relation type
CCDC73	TF binding region
CCDC73	CpG island
ENSG00000007372	chromatin interactions
ENSG00000149100	chromatin interactions

Extended variants
information (count: 411 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:411 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186477874	chr11:32633456-32633457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190071274	chr11:32633464-32633465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs36032071	chr11:32633528-32633529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145515952	chr11:32633584-32633585	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs548401206	chr11:32633593-32633594	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs543867702	chr11:32633703-32633704	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs563760073	chr11:32633724-32633725	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs536576191	chr11:32633879-32633880	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs566708438	chr11:32633918-32633919	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs183054432	chr11:32633958-32633959	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs555249838	chr11:32633982-32633983	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs552736480	chr11:32633986-32633987	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs559645475	chr11:32634023-32634024	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs558281502	chr11:32634065-32634066	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs528695433	chr11:32634095-32634096	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs116530387	chr11:32634111-32634112	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs568436521	chr11:32634156-32634157	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs568311859	chr11:32634291-32634292	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs535823186	chr11:32634343-32634344	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs34529090	chr11:32634395-32634396	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs549399648	chr11:32634464-32634465	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs567403941	chr11:32634485-32634486	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs569401127	chr11:32634489-32634490	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs561857316	chr11:32634503-32634504	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs538401308	chr11:32634535-32634536	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs187394186	chr11:32634596-32634597	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs572103281	chr11:32634632-32634633	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs534829579	chr11:32634694-32634695	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs554874209	chr11:32634712-32634713	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs574822349	chr11:32634754-32634755	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs543831421	chr11:32634823-32634824	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs563721359	chr11:32634829-32634830	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs552007629	chr11:32634869-32634870	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs190344047	chr11:32634872-32634873	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs545937623	chr11:32634905-32634906	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs559813944	chr11:32634917-32634918	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs140972550	chr11:32634931-32634932	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs373559418	chr11:32634940-32634941	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs117521878	chr11:32634988-32634989	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs371209448	chr11:32634990-32634991	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs562028928	chr11:32634999-32635000	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs376242210	chr11:32635000-32635001	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs531147786	chr11:32635038-32635039	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs149853604	chr11:32635078-32635079	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs183956425	chr11:32635079-32635080	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs574814157	chr11:32635089-32635090	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs201737265	chr11:32635093-32635094	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs188950262	chr11:32635096-32635097	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs367851392	chr11:32635102-32635103	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs192445382	chr11:32635118-32635119	Weak transcription Enhancers	Chromatin interactive region	1 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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32625400-32637200	Weak transcription	Fetal Heart	heart
2	chr11:32625800-32634800	Weak transcription	HepG2	liver
3	chr11:32627200-32635000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr11:32628200-32635000	Weak transcription	Liver	Liver
5	chr11:32628200-32635400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:32629400-32635200	Weak transcription	Fetal Lung	lung
7	chr11:32633400-32635000	Weak transcription	Fetal Kidney	kidney
8	chr11:32634800-32636000	Enhancers	HepG2	liver
9	chr11:32635000-32635600	Enhancers	Liver	Liver
10	chr11:32635000-32635800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr11:32635000-32636600	Enhancers	Fetal Kidney	kidney
12	chr11:32635200-32635400	Enhancers	Duodenum Mucosa	Duodenum
13	chr11:32635200-32635400	Enhancers	Fetal Lung	lung
14	chr11:32635200-32635600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:32635200-32635600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:32636600-32637000	Weak transcription	Fetal Kidney	kidney
17	chr11:32637000-32637400	Enhancers	Fetal Kidney	kidney
18	chr11:32637200-32637400	Enhancers	Fetal Heart	heart
19	chr11:32637400-32637800	Weak transcription	Fetal Heart	heart
20	chr11:32637800-32638200	Enhancers	Fetal Heart	heart
21	chr11:32638200-32639200	Flanking Active TSS	Fetal Heart	heart
22	chr11:32639200-32639400	Enhancers	Fetal Heart	heart
23	chr11:32649800-32650200	Enhancers	K562	blood
24	chr11:32649800-32650400	Enhancers	Fetal Heart	heart
25	chr11:32650200-32650800	Weak transcription	K562	blood
26	chr11:32650400-32652200	Weak transcription	Fetal Heart	heart
27	chr11:32650800-32651200	Active TSS	K562	blood
28	chr11:32652200-32653400	Enhancers	Fetal Heart	heart
29	chr11:32653200-32654000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links