Variant report

Variant	esv3400051
Chromosome Location	chr3:17102729-17106469
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	chr3:17102216..17104556-chr3:17108338..17110617,2	MCF-7	breast:

Extended variants
information (count: 122 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151044895	chr3:17102769-17102770	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536052565	chr3:17102845-17102846	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189528926	chr3:17102879-17102880	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372241150	chr3:17102940-17102941	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145831791	chr3:17103036-17103037	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141230571	chr3:17103044-17103045	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563318284	chr3:17103068-17103069	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183354101	chr3:17103097-17103098	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144853355	chr3:17103100-17103101	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146757042	chr3:17103206-17103207	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147735211	chr3:17103223-17103224	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527724286	chr3:17103273-17103274	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547465859	chr3:17103369-17103370	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549532356	chr3:17103381-17103382	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571156898	chr3:17103420-17103421	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577673261	chr3:17103445-17103446	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533436285	chr3:17103480-17103481	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550420836	chr3:17103486-17103487	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544942586	chr3:17103523-17103524	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556366630	chr3:17103533-17103534	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570280550	chr3:17103649-17103650	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536016713	chr3:17103690-17103691	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569956989	chr3:17103755-17103756	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187603720	chr3:17103810-17103811	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565777247	chr3:17103826-17103827	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534648530	chr3:17103840-17103841	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140318832	chr3:17103862-17103863	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577899404	chr3:17103890-17103891	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192220077	chr3:17103899-17103900	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557178431	chr3:17103939-17103940	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538588971	chr3:17103999-17104000	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367676574	chr3:17104030-17104031	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150360376	chr3:17104077-17104078	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561887314	chr3:17104120-17104121	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs137981388	chr3:17104153-17104154	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541442010	chr3:17104158-17104159	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112956234	chr3:17104172-17104173	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558804104	chr3:17104184-17104185	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183556468	chr3:17104196-17104197	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113749190	chr3:17104212-17104213	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531850626	chr3:17104392-17104393	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550216879	chr3:17104417-17104418	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563925394	chr3:17104422-17104423	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529559760	chr3:17104465-17104466	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549592687	chr3:17104474-17104475	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565817872	chr3:17104476-17104477	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73151360	chr3:17104517-17104518	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs551430020	chr3:17104618-17104619	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs199791313	chr3:17104709-17104710	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185344727	chr3:17104712-17104713	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	21364760	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17081200-17111400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:17083000-17109600	Weak transcription	Fetal Intestine Large	intestine
3	chr3:17083200-17111600	Weak transcription	Stomach Mucosa	stomach
4	chr3:17085800-17112200	Weak transcription	Gastric	stomach
5	chr3:17089400-17109000	Weak transcription	Dnd41	blood
6	chr3:17089400-17135000	Weak transcription	Pancreas	Pancrea
7	chr3:17089600-17111000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr3:17089800-17110400	Weak transcription	Fetal Thymus	thymus
9	chr3:17089800-17112200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr3:17089800-17116000	Weak transcription	Thymus	Thymus
11	chr3:17090400-17110400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr3:17090600-17110400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr3:17091600-17103800	Strong transcription	Primary T cells from cord blood	blood
14	chr3:17092000-17109200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr3:17092200-17109000	Weak transcription	Liver	Liver
16	chr3:17094800-17112200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr3:17095000-17112000	Weak transcription	Right Atrium	heart
18	chr3:17095200-17112200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr3:17095400-17106800	Weak transcription	Fetal Kidney	kidney
20	chr3:17095400-17108800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr3:17095400-17109000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr3:17095400-17109000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr3:17095400-17110200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr3:17095400-17114400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr3:17095400-17120600	Weak transcription	Aorta	Aorta
26	chr3:17095400-17120600	Weak transcription	Lung	lung
27	chr3:17095800-17111600	Weak transcription	Brain Germinal Matrix	brain
28	chr3:17096600-17118000	Weak transcription	Fetal Intestine Small	intestine
29	chr3:17097000-17109000	Weak transcription	Adipose Nuclei	Adipose
30	chr3:17097200-17108200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr3:17097200-17109200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr3:17097200-17112000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr3:17097200-17112000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr3:17097200-17113600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr3:17097400-17107000	Weak transcription	Psoas Muscle	Psoas
36	chr3:17097400-17109000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr3:17097600-17103600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr3:17097600-17109000	Weak transcription	Placenta	Placenta
39	chr3:17097600-17112200	Weak transcription	Fetal Stomach	stomach
40	chr3:17097600-17120400	Weak transcription	Spleen	Spleen
41	chr3:17098000-17109000	Weak transcription	GM12878-XiMat	blood
42	chr3:17098400-17109000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr3:17099000-17109600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:17099000-17112200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:17099400-17109400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:17099800-17103200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr3:17099800-17104400	Weak transcription	Left Ventricle	heart
48	chr3:17099800-17109200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr3:17100800-17109400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr3:17101200-17104200	Enhancers	Fetal Heart	heart

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