Variant report

Variant	nsv556535
Chromosome Location	chr11:127656196-127737929
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:127658803..127660673-chr11:127663935..127666199,2	MCF-7	breast:
2	chr11:127658803..127660673-chr11:127663935..127666199,2	MCF-7	breast:
3	chr11:127720354..127722060-chr11:127726130..127727656,2	K562	blood:
4	chr11:127720354..127722060-chr11:127726130..127727656,2	K562	blood:

Extended variants
information (count: 2454 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2454 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7948464	chr11:127656196-127656197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575921463	chr11:127656201-127656202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545252155	chr11:127656231-127656232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185732418	chr11:127656270-127656271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563357201	chr11:127656302-127656303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7948500	chr11:127656326-127656327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs144650119	chr11:127656341-127656342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530701093	chr11:127656379-127656380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191776731	chr11:127656380-127656381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572682871	chr11:127656428-127656429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541694859	chr11:127656431-127656432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367615775	chr11:127656442-127656443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7948732	chr11:127656448-127656449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs533498898	chr11:127656482-127656483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148397451	chr11:127656483-127656484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7949038	chr11:127656503-127656504	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs76233384	chr11:127656551-127656552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548087442	chr11:127656559-127656560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114726594	chr11:127656613-127656614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527578118	chr11:127656617-127656618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183565151	chr11:127656625-127656626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550289524	chr11:127656630-127656631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142528927	chr11:127656633-127656634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149338953	chr11:127656701-127656702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539542024	chr11:127656706-127656707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150526879	chr11:127656707-127656708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140424260	chr11:127656748-127656749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549212889	chr11:127656794-127656795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141094297	chr11:127656825-127656826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201536405	chr11:127656848-127656849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555402232	chr11:127656872-127656873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572813738	chr11:127656907-127656908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78820052	chr11:127656928-127656929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558356399	chr11:127657006-127657007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546282772	chr11:127657008-127657009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs578088356	chr11:127657015-127657016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145504047	chr11:127657045-127657046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189053750	chr11:127657067-127657068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10790919	chr11:127657071-127657072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs193143969	chr11:127657083-127657084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11409012	chr11:127657089-127657090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559305956	chr11:127657090-127657091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542770646	chr11:127657120-127657121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147721213	chr11:127657123-127657124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547347025	chr11:127657154-127657155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142576819	chr11:127657164-127657165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532944835	chr11:127657220-127657221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75909394	chr11:127657290-127657291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149850397	chr11:127657306-127657307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376083153	chr11:127657373-127657374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	17327916	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Squamous cell cancer	20885788	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Multiple myeloma	17550852	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21385341	CNVD
Multiple myeloma	16461302	CNVD
Burkitt''s lymphoma	18698080	CNVD
Prostate cancer	23792589	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Burkitt''s lymphoma	20823134	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	19571808	CNVD
Multiple myeloma	16616336	CNVD
Myelodysplastic syndrome	18663149	CNVD
Autism	20858243	CNVD
Cancer	20164919	CNVD
Autism	20531469	CNVD
Urothelial carcinoma	21177765	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21045282	CNVD
Glioblastoma	21080181	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Retinoblastoma	19183342	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:228 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:127652800-127660000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:127655000-127660000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:127659600-127660400	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr11:127659800-127660400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr11:127659800-127660800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:127660000-127660400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr11:127660000-127660400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr11:127660000-127660600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:127660000-127660600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr11:127660000-127660800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:127660000-127660800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:127660000-127660800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:127660000-127661400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:127660200-127660600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr11:127660400-127660600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr11:127660400-127661600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr11:127660400-127664800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr11:127660400-127664800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr11:127660400-127664800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr11:127660600-127665600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr11:127661400-127664800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:127661600-127662200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr11:127661600-127662200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:127662000-127662200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:127662200-127664600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr11:127664600-127665400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr11:127664800-127665600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:127665000-127665200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr11:127665000-127665200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr11:127665000-127665200	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr11:127665600-127665800	Enhancers	H9 Cell Line	embryonic stem cell
32	chr11:127665600-127667400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:127667400-127668800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:127670800-127671400	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr11:127671400-127673800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr11:127672200-127674600	Enhancers	Fetal Intestine Large	intestine
37	chr11:127672400-127678800	Enhancers	Fetal Intestine Small	intestine
38	chr11:127673800-127674000	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr11:127673800-127674000	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr11:127674000-127674400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr11:127674200-127675400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr11:127674400-127674800	Enhancers	Fetal Kidney	kidney
43	chr11:127674400-127676200	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr11:127674600-127675000	Weak transcription	Fetal Intestine Large	intestine
45	chr11:127674600-127675200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:127674600-127675400	Enhancers	Liver	Liver
47	chr11:127674600-127676600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:127674800-127675200	Enhancers	Colon Smooth Muscle	Colon
49	chr11:127674800-127675600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr11:127674800-127675800	Weak transcription	Fetal Kidney	kidney

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