Variant report

Variant	nsv1044103
Chromosome Location	chr11:15345545-15390081
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:15362507..15364354-chr11:15365660..15367373,2	K562	blood:
2	chr11:15368518..15371257-chr11:15372733..15374518,2	MCF-7	breast:
3	chr11:15368518..15371257-chr11:15372733..15374518,2	MCF-7	breast:
4	chr11:15337883..15340586-chr11:15346473..15348835,2	K562	blood:
5	chr11:15362507..15364354-chr11:15365660..15367373,2	K562	blood:
6	chr11:15349014..15349930-chr11:15670842..15672081,7	MCF-7	breast:
7	chr11:15349381..15349887-chr11:16009845..16010736,2	MCF-7	breast:

Extended variants
information (count: 1563 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1563 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544008990	chr11:15348407-15348408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184685032	chr11:15348468-15348469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529676897	chr11:15348470-15348471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534570426	chr11:15348475-15348476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4756805	chr11:15348512-15348513	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs187584438	chr11:15348518-15348519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143769991	chr11:15348523-15348524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192521202	chr11:15348543-15348544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370701725	chr11:15348585-15348586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116703125	chr11:15348640-15348641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555679016	chr11:15348649-15348650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556399117	chr11:15348666-15348667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114965703	chr11:15348669-15348670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116553693	chr11:15348745-15348746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185180680	chr11:15348774-15348775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148131858	chr11:15348777-15348778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540164134	chr11:15348831-15348832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142021227	chr11:15348845-15348846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576977847	chr11:15348864-15348865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190058000	chr11:15348869-15348870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376794628	chr11:15348896-15348897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557959316	chr11:15348916-15348917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10766233	chr11:15348953-15348954	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs541839886	chr11:15348955-15348956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560239872	chr11:15348967-15348968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78735159	chr11:15348971-15348972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552940329	chr11:15349071-15349072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181243617	chr11:15349092-15349093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531833834	chr11:15349100-15349101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550201546	chr11:15349101-15349102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12294231	chr11:15349109-15349110	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs78813656	chr11:15349118-15349119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547364553	chr11:15349119-15349120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372943384	chr11:15349141-15349142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184890996	chr11:15349148-15349149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533801107	chr11:15349150-15349151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188275600	chr11:15349160-15349161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545915192	chr11:15349171-15349172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576920658	chr11:15349184-15349185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537650716	chr11:15349250-15349251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150687746	chr11:15349280-15349281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574447411	chr11:15349329-15349330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10766234	chr11:15349390-15349391	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs371410006	chr11:15349393-15349394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560177075	chr11:15349475-15349476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs57520278	chr11:15349517-15349518	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs137940769	chr11:15349523-15349524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564629240	chr11:15349626-15349627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115442764	chr11:15349631-15349632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10766235	chr11:15349687-15349688	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
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
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Myelofibrosis	22110671	CNVD
Cancer	24489367	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Neuroblastoma	19435921	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:15348400-15350600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:15348400-15350800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:15349400-15349800	Enhancers	Fetal Brain Male	brain
4	chr11:15349600-15350000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr11:15349600-15350000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr11:15349600-15350000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr11:15349600-15350000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr11:15349600-15350000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:15349600-15350000	Enhancers	Brain Germinal Matrix	brain
10	chr11:15349600-15350200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:15349800-15350400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:15350000-15356200	Weak transcription	Brain Germinal Matrix	brain
13	chr11:15355400-15355800	Enhancers	Fetal Lung	lung
14	chr11:15356000-15356200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:15356200-15356800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr11:15356200-15357000	Enhancers	Brain Germinal Matrix	brain
17	chr11:15356200-15357200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:15356800-15357800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr11:15356800-15358800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:15357200-15358200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:15357400-15357800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:15357400-15358000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr11:15357400-15358000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr11:15357400-15358000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:15357600-15358000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr11:15357600-15358000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr11:15357600-15358000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr11:15357600-15358000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:15357600-15358400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr11:15357800-15358000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr11:15357800-15358200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr11:15358800-15363000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr11:15362000-15364000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr11:15362200-15364200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr11:15362400-15362600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:15362400-15364200	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr11:15362400-15364200	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr11:15362600-15363000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:15362600-15363200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr11:15362800-15363400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:15362800-15364000	Enhancers	H1 Cell Line	embryonic stem cell
42	chr11:15363000-15363200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:15363000-15364200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:15363000-15364600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr11:15363200-15364400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:15363800-15364400	Enhancers	Esophagus	oesophagus
47	chr11:15364600-15386000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr11:15368600-15371000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:15369800-15370200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr11:15370000-15370600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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