Variant report

Variant	esv3344471
Chromosome Location	chr11:9726779-9727975
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61878108	chr11:9726781-9726782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs61878109	chr11:9726785-9726786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376141800	chr11:9726803-9726804	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79332073	chr11:9726805-9726806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201831957	chr11:9726815-9726816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs61878110	chr11:9726816-9726817	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs529542279	chr11:9726825-9726826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs61878111	chr11:9726833-9726834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570878741	chr11:9726834-9726835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs61878112	chr11:9726837-9726838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61878113	chr11:9726840-9726841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200276077	chr11:9726842-9726843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200693583	chr11:9726850-9726851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78979123	chr11:9726854-9726855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372672681	chr11:9726856-9726857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112365559	chr11:9726857-9726858	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113371991	chr11:9726872-9726873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111867968	chr11:9726875-9726876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187494608	chr11:9726878-9726879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76165078	chr11:9726886-9726887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112399050	chr11:9726892-9726893	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112865774	chr11:9726903-9726904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111793485	chr11:9726907-9726908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202212544	chr11:9726910-9726911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71034731	chr11:9726911-9726912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113733787	chr11:9726927-9726928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371865580	chr11:9726930-9726931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200512190	chr11:9726932-9726933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111419289	chr11:9726938-9726939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546759625	chr11:9726943-9726944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566710625	chr11:9726944-9726945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112659234	chr11:9726945-9726946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559387130	chr11:9726947-9726948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61878114	chr11:9726962-9726963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs80253067	chr11:9727011-9727012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376090854	chr11:9727014-9727015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112983698	chr11:9727031-9727032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192302112	chr11:9727036-9727037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528197107	chr11:9727051-9727052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79620883	chr11:9727071-9727072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554868296	chr11:9727098-9727099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371735540	chr11:9727101-9727102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185610221	chr11:9727133-9727134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369520963	chr11:9727164-9727165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551453521	chr11:9727173-9727174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113673595	chr11:9727185-9727186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566882186	chr11:9727187-9727188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201060665	chr11:9727191-9727192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555639364	chr11:9727203-9727204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145938677	chr11:9727205-9727206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Breast cancer	22522925	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9710200-9758400	Weak transcription	Psoas Muscle	Psoas
2	chr11:9710400-9732800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:9711200-9732800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:9711400-9754400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr11:9711600-9729600	Weak transcription	Fetal Heart	heart
6	chr11:9711600-9730200	Weak transcription	Right Ventricle	heart
7	chr11:9711600-9731400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:9711600-9732800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr11:9711600-9733200	Weak transcription	Aorta	Aorta
10	chr11:9711600-9736600	Weak transcription	Gastric	stomach
11	chr11:9713600-9730000	Weak transcription	NH-A	brain
12	chr11:9715400-9730200	Weak transcription	Pancreas	Pancrea
13	chr11:9715800-9731200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr11:9715800-9732800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr11:9716000-9730200	Weak transcription	Esophagus	oesophagus
16	chr11:9716000-9736600	Weak transcription	NHEK	skin
17	chr11:9716000-9738000	Weak transcription	HMEC	breast
18	chr11:9717600-9731200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:9717600-9733000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:9717600-9736600	Weak transcription	Fetal Stomach	stomach
21	chr11:9717600-9738800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr11:9717600-9739200	Weak transcription	NHLF	lung
23	chr11:9717600-9751000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:9717600-9751000	Weak transcription	Ovary	ovary
25	chr11:9717800-9730200	Weak transcription	Fetal Muscle Leg	muscle
26	chr11:9717800-9731000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr11:9717800-9731600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:9717800-9736200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr11:9717800-9736200	Weak transcription	Fetal Intestine Large	intestine
30	chr11:9718200-9731200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr11:9718200-9749600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:9718400-9731000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr11:9719600-9731000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:9719600-9736400	Weak transcription	Placenta	Placenta
35	chr11:9720200-9730200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:9720200-9730400	Weak transcription	Lung	lung
37	chr11:9720200-9735000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:9722000-9732800	Weak transcription	Right Atrium	heart
39	chr11:9722400-9733000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr11:9722400-9733000	Weak transcription	Hela-S3	cervix
41	chr11:9723800-9730000	Weak transcription	Colon Smooth Muscle	Colon
42	chr11:9723800-9732800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr11:9723800-9732800	Weak transcription	Fetal Kidney	kidney
44	chr11:9724000-9739400	Weak transcription	Fetal Lung	lung
45	chr11:9724200-9729800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:9724200-9730200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr11:9724200-9736800	Weak transcription	Thymus	Thymus
48	chr11:9724400-9729600	Weak transcription	Osteobl	bone
49	chr11:9724800-9735400	Weak transcription	A549	lung
50	chr11:9725000-9729800	Weak transcription	Brain Anterior Caudate	brain

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