Variant report

Variant	esv3311507
Chromosome Location	chr10:116269929-116271679
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	chr10:116265784..116270126-chr10:116277666..116281304,6	MCF-7	breast:
2	chr10:116271430..116273039-chr10:116273983..116275755,2	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532645727	chr10:116269937-116269938	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185235839	chr10:116270040-116270041	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs559510678	chr10:116270086-116270087	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs111747088	chr10:116270091-116270092	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs547928797	chr10:116270093-116270094	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs569925234	chr10:116270106-116270107	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs188211251	chr10:116270166-116270167	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs35390289	chr10:116270224-116270225	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs193157568	chr10:116270231-116270232	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11196772	chr10:116270235-116270236	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552518725	chr10:116270254-116270255	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548601151	chr10:116270272-116270273	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142890722	chr10:116270325-116270326	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376658236	chr10:116270401-116270402	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570019142	chr10:116270415-116270416	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35934311	chr10:116270417-116270418	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs66945012	chr10:116270418-116270419	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs199711033	chr10:116270426-116270427	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546858524	chr10:116270473-116270474	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568160402	chr10:116270475-116270476	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536755654	chr10:116270516-116270517	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550067558	chr10:116270542-116270543	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554726517	chr10:116270564-116270565	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76943388	chr10:116270572-116270573	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148311985	chr10:116270581-116270582	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576887126	chr10:116270641-116270642	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184594293	chr10:116270663-116270664	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189380447	chr10:116270713-116270714	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559898201	chr10:116270714-116270715	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537362594	chr10:116270750-116270751	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574892431	chr10:116270874-116270875	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541921315	chr10:116270907-116270908	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538436195	chr10:116270925-116270926	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530608776	chr10:116270939-116270940	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77962058	chr10:116270965-116270966	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs117763465	chr10:116270973-116270974	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111651808	chr10:116270980-116270981	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528444298	chr10:116270987-116270988	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572040486	chr10:116271011-116271012	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546870689	chr10:116271054-116271055	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77772964	chr10:116271055-116271056	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141416510	chr10:116271060-116271061	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201081180	chr10:116271124-116271125	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12781910	chr10:116271126-116271127	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs180785618	chr10:116271134-116271135	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183728353	chr10:116271183-116271184	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558574361	chr10:116271193-116271194	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188533303	chr10:116271194-116271195	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181435174	chr10:116271202-116271203	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553355033	chr10:116271235-116271236	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cornelia de Lange syndrome	24599119	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	16397240	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neuroticism	17667963	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	17133270	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116225600-116278800	Weak transcription	HSMM	muscle
2	chr10:116243000-116286200	Weak transcription	Spleen	Spleen
3	chr10:116258000-116271400	Enhancers	Stomach Mucosa	stomach
4	chr10:116259600-116272000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:116259800-116276800	Weak transcription	Thymus	Thymus
6	chr10:116260000-116272800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr10:116260400-116272800	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr10:116261200-116279400	Weak transcription	GM12878-XiMat	blood
9	chr10:116262600-116274800	Weak transcription	Fetal Thymus	thymus
10	chr10:116264000-116271600	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr10:116265000-116271800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr10:116265400-116271600	Weak transcription	Psoas Muscle	Psoas
13	chr10:116265400-116279400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr10:116265600-116274800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr10:116265600-116275200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr10:116266000-116275000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr10:116266000-116276600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr10:116267600-116274800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr10:116267600-116275000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr10:116267600-116278800	Weak transcription	Colonic Mucosa	Colon
21	chr10:116267600-116279200	Weak transcription	Aorta	Aorta
22	chr10:116267800-116271400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr10:116267800-116271600	Weak transcription	HMEC	breast
24	chr10:116267800-116271600	Weak transcription	NHEK	skin
25	chr10:116267800-116273200	Weak transcription	Pancreas	Pancrea
26	chr10:116267800-116274800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr10:116267800-116278400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr10:116268000-116271600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr10:116268000-116272800	Weak transcription	Fetal Kidney	kidney
30	chr10:116268000-116273000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr10:116268000-116273400	Weak transcription	Liver	Liver
32	chr10:116268000-116277600	Weak transcription	A549	lung
33	chr10:116268000-116278800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr10:116268200-116272600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr10:116268200-116276200	Weak transcription	Brain Substantia Nigra	brain
36	chr10:116268200-116276600	Weak transcription	Fetal Stomach	stomach
37	chr10:116268200-116278800	Weak transcription	Fetal Intestine Large	intestine
38	chr10:116268200-116281600	Weak transcription	Brain Anterior Caudate	brain
39	chr10:116268400-116271000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr10:116268400-116271600	Weak transcription	Fetal Muscle Leg	muscle
41	chr10:116268400-116271800	Weak transcription	HUVEC	blood vessel
42	chr10:116268400-116272200	Genic enhancers	Primary T cells fromperipheralblood	blood
43	chr10:116268400-116276800	Weak transcription	Fetal Intestine Small	intestine
44	chr10:116268400-116277000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr10:116268600-116272800	Weak transcription	Fetal Lung	lung
46	chr10:116268600-116273200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr10:116268600-116277000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr10:116268800-116273200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr10:116269000-116271800	Weak transcription	Hela-S3	cervix
50	chr10:116269000-116273400	Weak transcription	Fetal Heart	heart

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