Variant report

Variant	esv3368120
Chromosome Location	chr11:32860476-32862424
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:32861977..32862713-chr14:65386776..65387380,2	MCF-7	breast:
2	chr11:32862183..32864294-chr11:32914218..32916079,2	K562	blood:
3	chr11:32854588..32857057-chr11:32860540..32862429,2	K562	blood:
4	chr11:32850866..32853799-chr11:32862127..32863701,2	MCF-7	breast:
5	chr11:32862368..32865112-chr11:32868900..32870710,2	K562	blood:
6	chr11:32858756..32863139-chr11:32912593..32915314,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000060749	chromatin interactions
ENSG00000135378	chromatin interactions

Extended variants
information (count: 66 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377186590	chr11:32860496-32860497	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs570373852	chr11:32860499-32860500	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs377387573	chr11:32860529-32860530	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs182090625	chr11:32860550-32860551	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs187634354	chr11:32860566-32860567	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs190432598	chr11:32860579-32860580	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs566599436	chr11:32860595-32860596	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs138945007	chr11:32860615-32860616	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs555641122	chr11:32860642-32860643	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs377331222	chr11:32860717-32860718	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs568994707	chr11:32860723-32860724	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs374391504	chr11:32860779-32860780	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs140217298	chr11:32860849-32860850	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs115277014	chr11:32860860-32860861	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs72899239	chr11:32860893-32860894	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs539771389	chr11:32860921-32860922	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs182973659	chr11:32860945-32860946	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs145227832	chr11:32860967-32860968	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs573834446	chr11:32860980-32860981	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs546383778	chr11:32860999-32861000	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs542668407	chr11:32861056-32861057	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs71889046	chr11:32861235-32861236	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs71485261	chr11:32861238-32861239	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs112299166	chr11:32861240-32861241	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs185349149	chr11:32861265-32861266	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs190154908	chr11:32861266-32861267	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs61567064	chr11:32861280-32861281	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs76012630	chr11:32861293-32861294	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs72014798	chr11:32861295-32861296	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs59944975	chr11:32861296-32861297	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs35350021	chr11:32861298-32861299	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs56697162	chr11:32861303-32861304	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs187593081	chr11:32861305-32861306	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs59505114	chr11:32861321-32861322	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs61345408	chr11:32861322-32861323	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs12282866	chr11:32861331-32861332	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs58720134	chr11:32861336-32861337	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs59400051	chr11:32861338-32861339	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs61156911	chr11:32861345-32861346	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs552537737	chr11:32861349-32861350	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs397848285	chr11:32861350-32861351	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs61240688	chr11:32861353-32861354	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs565606189	chr11:32861370-32861371	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs183811190	chr11:32861405-32861406	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs564204126	chr11:32861510-32861511	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs546664822	chr11:32861517-32861518	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs200425349	chr11:32861636-32861637	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs566466906	chr11:32861671-32861672	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs137899277	chr11:32861680-32861681	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs370009155	chr11:32861708-32861709	Weak transcription Strong 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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32852000-32862000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:32852200-32876800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:32852800-32863800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:32852800-32871000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr11:32852800-32878800	Weak transcription	Placenta	Placenta
6	chr11:32853000-32863000	Weak transcription	Fetal Intestine Small	intestine
7	chr11:32853000-32877200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:32854000-32871200	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr11:32855000-32876800	Weak transcription	Esophagus	oesophagus
10	chr11:32856400-32860800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr11:32858600-32860800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr11:32858600-32873800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr11:32859400-32861000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:32859600-32861000	Enhancers	Hela-S3	cervix
15	chr11:32859800-32861000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:32859800-32861000	Enhancers	HMEC	breast
17	chr11:32860000-32860800	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr11:32860000-32861000	Genic enhancers	Liver	Liver
19	chr11:32860000-32861200	Enhancers	A549	lung
20	chr11:32860200-32860600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:32860200-32860600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr11:32860200-32860600	Enhancers	NHEK	skin
23	chr11:32860400-32860600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr11:32860400-32860800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:32860600-32860800	Enhancers	Duodenum Mucosa	Duodenum
26	chr11:32860600-32861000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:32860600-32861000	Flanking Active TSS	NHEK	skin
28	chr11:32860600-32862000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:32860800-32861000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:32860800-32861800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr11:32860800-32861800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr11:32860800-32861800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr11:32860800-32864600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr11:32861000-32861200	Enhancers	NHEK	skin
35	chr11:32861000-32861600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:32861000-32861800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:32861000-32861800	Weak transcription	Hela-S3	cervix
38	chr11:32861000-32862600	Strong transcription	Liver	Liver
39	chr11:32861000-32865400	Weak transcription	HMEC	breast
40	chr11:32861000-32865600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:32861000-32869200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:32861000-32872200	Weak transcription	Gastric	stomach
43	chr11:32861200-32861600	Weak transcription	A549	lung
44	chr11:32861200-32873400	Weak transcription	NHEK	skin
45	chr11:32861600-32862800	Enhancers	A549	lung
46	chr11:32861600-32870800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:32861800-32862400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr11:32861800-32862400	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr11:32861800-32862400	Strong transcription	Hela-S3	cervix
50	chr11:32861800-32862400	Genic enhancers	Monocytes-CD14+_RO01746	blood

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