Variant report

Variant	esv3394987
Chromosome Location	chr11:10529788-10530211
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10522129..10523861-chr11:10525994..10530069,4	K562	blood:
2	chr11:10527749..10530560-chr11:10562124..10563785,2	MCF-7	breast:

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4485	chr11:10529824-10529843	MIMAT0019019

Variant related genes	Relation type
ENSG00000110315	chromatin interactions
ENSG00000177112	chromatin interactions

Extended variants
information (count: 42 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7350542	chr11:10529822-10529823	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs77023256	chr11:10529847-10529848	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs74617425	chr11:10529848-10529849	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs76224031	chr11:10529849-10529850	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs377037018	chr11:10529858-10529859	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs59900737	chr11:10529879-10529880	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs79642174	chr11:10529881-10529882	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs148957648	chr11:10529882-10529883	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs76624472	chr11:10529883-10529884	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs574830675	chr11:10529895-10529896	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs543631533	chr11:10529915-10529916	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs563481889	chr11:10529924-10529925	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs74519669	chr11:10529961-10529962	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs77259456	chr11:10529964-10529965	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs7350470	chr11:10529983-10529984	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs7350505	chr11:10529990-10529991	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs531792840	chr11:10529993-10529994	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs138243095	chr11:10530002-10530003	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs79962951	chr11:10530014-10530015	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs78709303	chr11:10530017-10530018	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs112117100	chr11:10530045-10530046	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs75336746	chr11:10530055-10530056	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs80331758	chr11:10530061-10530062	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs111966168	chr11:10530062-10530063	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs74654136	chr11:10530063-10530064	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs551603813	chr11:10530074-10530075	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs565246673	chr11:10530091-10530092	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs531618929	chr11:10530099-10530100	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs547819361	chr11:10530108-10530109	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs75782442	chr11:10530112-10530113	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs567855585	chr11:10530119-10530120	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs79556420	chr11:10530126-10530127	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs536560610	chr11:10530128-10530129	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs373333105	chr11:10530140-10530141	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs77101755	chr11:10530148-10530149	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs75936223	chr11:10530149-10530150	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs78551189	chr11:10530164-10530165	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs553193132	chr11:10530169-10530170	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs113641511	chr11:10530182-10530183	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs75516220	chr11:10530193-10530194	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs185387128	chr11:10530194-10530195	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs538312553	chr11:10530203-10530204	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
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
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Neuroblastoma	18923524	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10495200-10530800	Strong transcription	Primary T cells from cord blood	blood
2	chr11:10495800-10529800	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr11:10501600-10550600	Weak transcription	Small Intestine	intestine
4	chr11:10502600-10560800	Weak transcription	Fetal Brain Male	brain
5	chr11:10507800-10544800	Weak transcription	Fetal Kidney	kidney
6	chr11:10511000-10533200	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr11:10512800-10531600	Weak transcription	Stomach Mucosa	stomach
8	chr11:10512800-10540400	Weak transcription	Fetal Lung	lung
9	chr11:10512800-10548600	Weak transcription	Right Ventricle	heart
10	chr11:10513000-10531800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr11:10513200-10538000	Weak transcription	Left Ventricle	heart
12	chr11:10513400-10536000	Weak transcription	A549	lung
13	chr11:10514600-10531400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:10514600-10535600	Weak transcription	HSMM	muscle
15	chr11:10515800-10540600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:10516000-10544000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr11:10517200-10531800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:10520000-10543400	Weak transcription	Colon Smooth Muscle	Colon
19	chr11:10520400-10531600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr11:10522200-10531600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr11:10522200-10531800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:10522200-10541200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:10522400-10532400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr11:10522400-10535600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:10522400-10537800	Weak transcription	Fetal Intestine Large	intestine
26	chr11:10522400-10540600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr11:10522400-10546200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr11:10522400-10560800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr11:10522800-10540600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr11:10524200-10537800	Weak transcription	Aorta	Aorta
31	chr11:10524600-10536800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:10524600-10540600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr11:10524600-10544800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr11:10525600-10533200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:10525800-10555600	Strong transcription	Primary B cells from peripheral blood	blood
36	chr11:10526000-10532400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:10526200-10532000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:10526200-10535400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr11:10526400-10532600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:10526400-10532600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr11:10526400-10532600	Weak transcription	Esophagus	oesophagus
42	chr11:10526400-10533200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr11:10526400-10536000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:10526400-10536200	Weak transcription	NHDF-Ad	bronchial
45	chr11:10526400-10537800	Weak transcription	Pancreas	Pancrea
46	chr11:10526400-10548800	Weak transcription	Spleen	Spleen
47	chr11:10526400-10549000	Weak transcription	Ovary	ovary
48	chr11:10526400-10551800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:10526400-10561600	Weak transcription	Colonic Mucosa	Colon
50	chr11:10526600-10532000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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