Variant report

Variant	esv3324615
Chromosome Location	chr11:9725376-9729874
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: 309 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:309 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183200590	chr11:9725445-9725446	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558481750	chr11:9725504-9725505	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555095643	chr11:9725518-9725519	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs151267757	chr11:9725522-9725523	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543989685	chr11:9725523-9725524	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557534124	chr11:9725532-9725533	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577437711	chr11:9725565-9725566	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188910732	chr11:9725570-9725571	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12803440	chr11:9725608-9725609	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs2572938	chr11:9725610-9725611	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs190945780	chr11:9725614-9725615	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561406472	chr11:9725621-9725622	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542046122	chr11:9725684-9725685	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530524119	chr11:9725691-9725692	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182446559	chr11:9725734-9725735	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2645021	chr11:9725737-9725738	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs533015801	chr11:9725749-9725750	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369620783	chr11:9725800-9725801	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141563962	chr11:9725809-9725810	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566698009	chr11:9725833-9725834	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535004258	chr11:9725888-9725889	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376263235	chr11:9725916-9725917	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555009786	chr11:9725927-9725928	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs4910490	chr11:9725928-9725929	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147172781	chr11:9725939-9725940	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142726407	chr11:9725941-9725942	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149042978	chr11:9725951-9725952	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2645020	chr11:9725955-9725956	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147032743	chr11:9725967-9725968	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557237507	chr11:9726017-9726018	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545540416	chr11:9726019-9726020	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577352152	chr11:9726030-9726031	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2572937	chr11:9726093-9726094	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs553621543	chr11:9726098-9726099	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191636817	chr11:9726112-9726113	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570745616	chr11:9726141-9726142	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541378098	chr11:9726160-9726161	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561371745	chr11:9726162-9726163	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530491299	chr11:9726165-9726166	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2572936	chr11:9726180-9726181	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs113361288	chr11:9726205-9726206	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138222572	chr11:9726213-9726214	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	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
44	rs143728682	chr11:9726291-9726292	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	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
46	rs548574724	chr11:9726303-9726304	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568481196	chr11:9726318-9726319	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537083183	chr11:9726324-9726325	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557403547	chr11:9726325-9726326	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570898797	chr11:9726329-9726330	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	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:192 , 50 per page) page: 1 2 3 4

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	chr11:9711600-9725800	Weak transcription	HSMMtube	muscle
6	chr11:9711600-9729600	Weak transcription	Fetal Heart	heart
7	chr11:9711600-9730200	Weak transcription	Right Ventricle	heart
8	chr11:9711600-9731400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:9711600-9732800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr11:9711600-9733200	Weak transcription	Aorta	Aorta
11	chr11:9711600-9736600	Weak transcription	Gastric	stomach
12	chr11:9713600-9730000	Weak transcription	NH-A	brain
13	chr11:9715400-9730200	Weak transcription	Pancreas	Pancrea
14	chr11:9715800-9731200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:9715800-9732800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr11:9716000-9730200	Weak transcription	Esophagus	oesophagus
17	chr11:9716000-9736600	Weak transcription	NHEK	skin
18	chr11:9716000-9738000	Weak transcription	HMEC	breast
19	chr11:9717600-9731200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:9717600-9733000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:9717600-9736600	Weak transcription	Fetal Stomach	stomach
22	chr11:9717600-9738800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr11:9717600-9739200	Weak transcription	NHLF	lung
24	chr11:9717600-9751000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:9717600-9751000	Weak transcription	Ovary	ovary
26	chr11:9717800-9730200	Weak transcription	Fetal Muscle Leg	muscle
27	chr11:9717800-9731000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr11:9717800-9731600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:9717800-9736200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:9717800-9736200	Weak transcription	Fetal Intestine Large	intestine
31	chr11:9718200-9731200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr11:9718200-9749600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:9718400-9731000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:9718800-9726200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:9719600-9731000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr11:9719600-9736400	Weak transcription	Placenta	Placenta
37	chr11:9720000-9725400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr11:9720000-9726000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:9720200-9726000	Weak transcription	Spleen	Spleen
40	chr11:9720200-9730200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:9720200-9730400	Weak transcription	Lung	lung
42	chr11:9720200-9735000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:9721800-9725800	Enhancers	Primary T cells from cord blood	blood
44	chr11:9722000-9732800	Weak transcription	Right Atrium	heart
45	chr11:9722200-9725400	Enhancers	Brain Hippocampus Middle	brain
46	chr11:9722400-9733000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr11:9722400-9733000	Weak transcription	Hela-S3	cervix
48	chr11:9723000-9725400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr11:9723200-9725400	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr11:9723400-9725400	Enhancers	Primary T helper cells PMA-I stimulated	--

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