Variant report

Variant	esv3399258
Chromosome Location	chr11:34046901-34049749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34049427..34054146-chr11:34058279..34060796,4	K562	blood:
2	chr11:34044990..34047866-chr11:34056596..34058882,2	K562	blood:
3	chr11:34046638..34048627-chr11:34065248..34067644,2	MCF-7	breast:
4	chr11:34047888..34049807-chr11:34058557..34060291,2	K562	blood:
5	chr11:34048725..34050280-chr11:34056385..34058046,2	MCF-7	breast:
6	chr11:34040788..34042322-chr11:34047509..34050356,2	K562	blood:

Extended variants
information (count: 197 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:197 , 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	rs568180276	chr11:34046917-34046918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531087616	chr11:34046921-34046922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141965012	chr11:34046990-34046991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571105007	chr11:34047060-34047061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs80133376	chr11:34047080-34047081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78098928	chr11:34047082-34047083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75364937	chr11:34047084-34047085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186148817	chr11:34047134-34047135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553663805	chr11:34047136-34047137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566732469	chr11:34047181-34047182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12272149	chr11:34047182-34047183	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs190811129	chr11:34047208-34047209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575342546	chr11:34047234-34047235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543166155	chr11:34047316-34047317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556733238	chr11:34047378-34047379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34991394	chr11:34047398-34047399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113820335	chr11:34047411-34047412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558780119	chr11:34047448-34047449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78629921	chr11:34047510-34047511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184040283	chr11:34047549-34047550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140168227	chr11:34047554-34047555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571228536	chr11:34047578-34047579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528043350	chr11:34047590-34047591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111728288	chr11:34047640-34047641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544226550	chr11:34047648-34047649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541821108	chr11:34047664-34047665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143906217	chr11:34047672-34047673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530620481	chr11:34047749-34047750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545592921	chr11:34047752-34047753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11032493	chr11:34047777-34047778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372929000	chr11:34047794-34047795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11032494	chr11:34047802-34047803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11032495	chr11:34047807-34047808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146653432	chr11:34047825-34047826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139062932	chr11:34047835-34047836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533601669	chr11:34047850-34047851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188624865	chr11:34047859-34047860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561845909	chr11:34047867-34047868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149904795	chr11:34047868-34047869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11600775	chr11:34047874-34047875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs61880366	chr11:34047877-34047878	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs145611051	chr11:34047909-34047910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75540078	chr11:34047912-34047913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528651788	chr11:34047945-34047946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548966849	chr11:34047950-34047951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375801526	chr11:34047953-34047954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568955699	chr11:34047960-34047961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192908207	chr11:34047963-34047964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149080966	chr11:34047965-34047966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576938197	chr11:34047968-34047969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	21865298	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34041400-34048800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:34046600-34049400	Weak transcription	Aorta	Aorta
3	chr11:34047400-34047600	Enhancers	Liver	Liver
4	chr11:34047400-34047600	Enhancers	Fetal Intestine Small	intestine
5	chr11:34047600-34048800	Weak transcription	Fetal Intestine Small	intestine
6	chr11:34047800-34048800	Weak transcription	Liver	Liver
7	chr11:34048800-34049200	Enhancers	Liver	Liver
8	chr11:34048800-34049400	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr11:34048800-34049600	Enhancers	H9 Cell Line	embryonic stem cell
10	chr11:34048800-34050200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:34048800-34050400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:34048800-34050400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:34048800-34050400	Enhancers	Pancreas	Pancrea
14	chr11:34048800-34050600	Enhancers	Fetal Intestine Small	intestine
15	chr11:34048800-34052400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr11:34049000-34049200	Enhancers	HepG2	liver
17	chr11:34049000-34049400	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr11:34049000-34049800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:34049000-34049800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr11:34049000-34050200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:34049000-34050200	Enhancers	Colonic Mucosa	Colon
22	chr11:34049000-34050600	Enhancers	Fetal Intestine Large	intestine
23	chr11:34049000-34050600	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr11:34049200-34049400	Enhancers	A549	lung
25	chr11:34049200-34049600	Enhancers	Duodenum Mucosa	Duodenum
26	chr11:34049200-34049800	Enhancers	H1 Cell Line	embryonic stem cell
27	chr11:34049200-34049800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:34049200-34049800	Flanking Active TSS	HepG2	liver
29	chr11:34049200-34050200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:34049200-34050200	Flanking Active TSS	Liver	Liver
31	chr11:34049200-34050600	Enhancers	Placenta	Placenta
32	chr11:34049200-34051600	Enhancers	Stomach Mucosa	stomach
33	chr11:34049400-34049600	Enhancers	Aorta	Aorta
34	chr11:34049400-34049600	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr11:34049400-34049600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr11:34049400-34049800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr11:34049400-34050200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr11:34049400-34050200	Enhancers	Fetal Kidney	kidney
39	chr11:34049400-34050200	Enhancers	Psoas Muscle	Psoas
40	chr11:34049400-34050200	Enhancers	Small Intestine	intestine
41	chr11:34049400-34050200	Flanking Active TSS	A549	lung
42	chr11:34049400-34050400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:34049400-34052400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:34049600-34049800	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr11:34049600-34050000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr11:34049600-34050000	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr11:34049600-34050200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:34049600-34050400	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr11:34049600-34050400	Enhancers	Right Ventricle	heart
50	chr11:34049600-34050400	Enhancers	Skeletal Muscle Female	skeletal muscle

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