Variant report

Variant	esv3353971
Chromosome Location	chr11:9725976-9728974
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	chr11:9728161..9730084-chr11:9731430..9733308,2	K562	blood:

Extended variants
information (count: 221 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:221 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557237507	chr11:9726017-9726018	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545540416	chr11:9726019-9726020	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577352152	chr11:9726030-9726031	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2572937	chr11:9726093-9726094	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs553621543	chr11:9726098-9726099	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191636817	chr11:9726112-9726113	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570745616	chr11:9726141-9726142	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541378098	chr11:9726160-9726161	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561371745	chr11:9726162-9726163	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530491299	chr11:9726165-9726166	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2572936	chr11:9726180-9726181	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs113361288	chr11:9726205-9726206	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138222572	chr11:9726213-9726214	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2645019	chr11:9726288-9726289	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs143728682	chr11:9726291-9726292	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2645018	chr11:9726294-9726295	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs548574724	chr11:9726303-9726304	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568481196	chr11:9726318-9726319	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537083183	chr11:9726324-9726325	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557403547	chr11:9726325-9726326	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570898797	chr11:9726329-9726330	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539983039	chr11:9726331-9726332	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34043654	chr11:9726369-9726370	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs573173593	chr11:9726372-9726373	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535764487	chr11:9726400-9726401	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184181756	chr11:9726434-9726435	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150151586	chr11:9726534-9726535	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372193734	chr11:9726556-9726557	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377041045	chr11:9726563-9726564	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374544045	chr11:9726565-9726566	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs72484737	chr11:9726577-9726578	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs111698215	chr11:9726580-9726581	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201143874	chr11:9726583-9726584	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370152790	chr11:9726588-9726589	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577671240	chr11:9726596-9726597	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs72484738	chr11:9726597-9726598	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369712037	chr11:9726612-9726613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201407093	chr11:9726617-9726618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538750451	chr11:9726639-9726640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199683973	chr11:9726643-9726644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560411019	chr11:9726653-9726654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200674547	chr11:9726662-9726663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112830006	chr11:9726664-9726665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112935946	chr11:9726667-9726668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376071680	chr11:9726684-9726685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370204311	chr11:9726687-9726688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200625076	chr11:9726699-9726700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75562234	chr11:9726701-9726702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71034729	chr11:9726711-9726712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61878105	chr11:9726712-9726713	Weak transcription Strong 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:148 , 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	chr11:9718800-9726200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:9719600-9731000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr11:9719600-9736400	Weak transcription	Placenta	Placenta
36	chr11:9720000-9726000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:9720200-9726000	Weak transcription	Spleen	Spleen
38	chr11:9720200-9730200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:9720200-9730400	Weak transcription	Lung	lung
40	chr11:9720200-9735000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:9722000-9732800	Weak transcription	Right Atrium	heart
42	chr11:9722400-9733000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr11:9722400-9733000	Weak transcription	Hela-S3	cervix
44	chr11:9723800-9730000	Weak transcription	Colon Smooth Muscle	Colon
45	chr11:9723800-9732800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr11:9723800-9732800	Weak transcription	Fetal Kidney	kidney
47	chr11:9724000-9726400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:9724000-9726400	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr11:9724000-9739400	Weak transcription	Fetal Lung	lung
50	chr11:9724200-9726400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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