Variant report

Variant	esv3459948
Chromosome Location	chr2:205705963-205712223
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	chr2:205707571..205709179-chr2:205709317..205711354,2	MCF-7	breast:
2	chr2:205707571..205709179-chr2:205709317..205711354,2	MCF-7	breast:

Extended variants
information (count: 206 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:206 , 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	rs188817520	chr2:205705984-205705985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527320030	chr2:205705997-205705998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192862172	chr2:205706017-205706018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185829737	chr2:205706049-205706050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531439542	chr2:205706199-205706200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549865480	chr2:205706203-205706204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569492014	chr2:205706289-205706290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537677320	chr2:205706306-205706307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556311023	chr2:205706339-205706340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536818542	chr2:205706439-205706440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs71427760	chr2:205706481-205706482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189333072	chr2:205706525-205706526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191515828	chr2:205706583-205706584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116726989	chr2:205706584-205706585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557060055	chr2:205706585-205706586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145552061	chr2:205706619-205706620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183618322	chr2:205706628-205706629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576787386	chr2:205706694-205706695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10198813	chr2:205706704-205706705	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs556211958	chr2:205706718-205706719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188720901	chr2:205706748-205706749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181417676	chr2:205706774-205706775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs80025939	chr2:205706785-205706786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35550374	chr2:205706816-205706817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554078206	chr2:205706848-205706849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558229187	chr2:205706897-205706898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572250575	chr2:205706911-205706912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573238782	chr2:205706936-205706937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546034606	chr2:205706950-205706951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113118051	chr2:205707144-205707145	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368846855	chr2:205707152-205707153	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564084590	chr2:205707225-205707226	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186344665	chr2:205707231-205707232	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370996124	chr2:205707251-205707252	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543568675	chr2:205707269-205707270	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561749743	chr2:205707283-205707284	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374411917	chr2:205707322-205707323	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530358024	chr2:205707350-205707351	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368338646	chr2:205707359-205707360	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190338824	chr2:205707369-205707370	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73066690	chr2:205707402-205707403	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs146666929	chr2:205707489-205707490	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540949066	chr2:205707509-205707510	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552802290	chr2:205707548-205707549	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140267290	chr2:205707553-205707554	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367807307	chr2:205707568-205707569	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76467786	chr2:205707592-205707593	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556274889	chr2:205707601-205707602	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568207162	chr2:205707652-205707653	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116211506	chr2:205707710-205707711	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Cervical cancer	21062161	CNVD
Intracranial aneurysm	16715129	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Glioblastoma multiforme	22286061	CNVD
Cancer	20164920	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205693400-205714600	Weak transcription	Fetal Kidney	kidney
2	chr2:205705200-205708400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr2:205705400-205706000	Enhancers	Stomach Mucosa	stomach
4	chr2:205705800-205706000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:205705800-205706000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr2:205705800-205706000	Enhancers	Ovary	ovary
7	chr2:205706000-205706200	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr2:205706000-205707000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:205706000-205707000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr2:205706200-205707400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:205706200-205707400	Weak transcription	Ovary	ovary
12	chr2:205706600-205707000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:205706600-205707600	Enhancers	Rectal Smooth Muscle	rectum
14	chr2:205706600-205707600	Enhancers	HUVEC	blood vessel
15	chr2:205706800-205707000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:205706800-205707200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:205706800-205707400	Enhancers	NHEK	skin
18	chr2:205706800-205707600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:205706800-205707600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:205706800-205707600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:205706800-205707600	Enhancers	NH-A	brain
22	chr2:205706800-205707600	Enhancers	Osteobl	bone
23	chr2:205706800-205708600	Enhancers	Adipose Nuclei	Adipose
24	chr2:205706800-205708600	Enhancers	Fetal Lung	lung
25	chr2:205707000-205707200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:205707000-205707200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:205707000-205707200	Enhancers	A549	lung
28	chr2:205707000-205707400	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr2:205707000-205707600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:205707000-205707600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:205707000-205707600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:205707000-205707600	Enhancers	HSMM	muscle
33	chr2:205707000-205707600	Enhancers	NHDF-Ad	bronchial
34	chr2:205707000-205707800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr2:205707000-205708000	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr2:205707000-205708000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr2:205707000-205708200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:205707000-205708200	Enhancers	Brain Anterior Caudate	brain
39	chr2:205707000-205708400	Enhancers	Colon Smooth Muscle	Colon
40	chr2:205707000-205708600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:205707000-205708800	Enhancers	NHLF	lung
42	chr2:205707200-205707400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr2:205707200-205707800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:205707200-205708000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:205707200-205708200	Enhancers	Stomach Smooth Muscle	stomach
46	chr2:205707200-205708200	Flanking Active TSS	A549	lung
47	chr2:205707200-205708200	Enhancers	Hela-S3	cervix
48	chr2:205707400-205707600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr2:205707400-205707600	Enhancers	Gastric	stomach
50	chr2:205707400-205707600	Active TSS	HSMMtube	muscle

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