Variant report

Variant	nsv963944
Chromosome Location	chr2:206454519-206459202
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	chr2:206456715..206459134-chr2:206471272..206472956,2	MCF-7	breast:

Extended variants
information (count: 155 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576402075	chr2:206454528-206454529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537023988	chr2:206454643-206454644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188174990	chr2:206454690-206454691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149749745	chr2:206454713-206454714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs193260109	chr2:206454768-206454769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113225285	chr2:206454780-206454781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559464869	chr2:206454809-206454810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs118038784	chr2:206454828-206454829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545007064	chr2:206454835-206454836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs367669204	chr2:206454855-206454856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564828469	chr2:206454870-206454871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531907305	chr2:206454891-206454892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550388208	chr2:206454898-206454899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562149133	chr2:206455018-206455019	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs529400340	chr2:206455054-206455055	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs547507165	chr2:206455066-206455067	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs199946042	chr2:206455104-206455105	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs199532931	chr2:206455105-206455106	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs35473201	chr2:206455136-206455137	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs183699648	chr2:206455184-206455185	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs56918774	chr2:206455195-206455196	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs147660481	chr2:206455196-206455197	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs536955919	chr2:206455197-206455198	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs559908378	chr2:206455198-206455199	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs140717194	chr2:206455213-206455214	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs573778971	chr2:206455221-206455222	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs534777823	chr2:206455232-206455233	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs553140566	chr2:206455237-206455238	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs144678693	chr2:206455245-206455246	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs7594189	chr2:206455254-206455255	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs78571033	chr2:206455320-206455321	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs115954102	chr2:206455356-206455357	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs543761872	chr2:206455362-206455363	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs11675753	chr2:206455402-206455403	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs529460024	chr2:206455421-206455422	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72937648	chr2:206455431-206455432	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559469611	chr2:206455455-206455456	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533242923	chr2:206455479-206455480	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551811701	chr2:206455488-206455489	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187953127	chr2:206455505-206455506	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371896369	chr2:206455528-206455529	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532924054	chr2:206455538-206455539	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376755176	chr2:206455539-206455540	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369762208	chr2:206455562-206455563	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537427710	chr2:206455568-206455569	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61081943	chr2:206455598-206455599	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183575209	chr2:206455693-206455694	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534843311	chr2:206455754-206455755	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72937649	chr2:206455780-206455781	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs577851486	chr2:206455781-206455782	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Non-muscle invasive bladder neoplasm	19445696	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-small cell lung cancer	21829676	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206422400-206464600	Weak transcription	Aorta	Aorta
2	chr2:206445400-206455000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:206445600-206455000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:206447400-206455200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:206451800-206455000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:206452400-206455400	Weak transcription	Fetal Intestine Small	intestine
7	chr2:206452800-206454800	Weak transcription	HSMM	muscle
8	chr2:206452800-206455200	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:206453000-206455000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:206454000-206455200	Enhancers	HSMMtube	muscle
11	chr2:206454000-206455400	Enhancers	HMEC	breast
12	chr2:206454000-206458400	Weak transcription	Right Atrium	heart
13	chr2:206454200-206454600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:206454200-206456000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:206454200-206456000	Enhancers	NHDF-Ad	bronchial
16	chr2:206454400-206455400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:206454800-206456600	Enhancers	HSMM	muscle
18	chr2:206455000-206455200	Enhancers	Esophagus	oesophagus
19	chr2:206455000-206455200	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr2:206455000-206455400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:206455000-206455400	Enhancers	Placenta	Placenta
22	chr2:206455000-206455600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:206455000-206455600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:206455000-206455800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:206455000-206455800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:206455000-206455800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:206455200-206455600	Flanking Active TSS	HSMMtube	muscle
28	chr2:206455200-206455800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:206455200-206455800	Enhancers	Fetal Muscle Leg	muscle
30	chr2:206455200-206456200	Enhancers	Osteobl	bone
31	chr2:206455200-206456400	Enhancers	HUVEC	blood vessel
32	chr2:206455400-206455800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr2:206455400-206456400	Enhancers	NH-A	brain
34	chr2:206455400-206458400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:206455600-206456400	Enhancers	HSMMtube	muscle
36	chr2:206455800-206456400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr2:206455800-206458400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:206455800-206458400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:206456000-206458200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:206456200-206458600	Weak transcription	Osteobl	bone
41	chr2:206456400-206471600	Weak transcription	HSMMtube	muscle
42	chr2:206456600-206458600	Weak transcription	HSMM	muscle
43	chr2:206458200-206459000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:206458200-206459600	Enhancers	Fetal Heart	heart
45	chr2:206458400-206458800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:206458400-206459000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:206458400-206459000	Enhancers	Right Atrium	heart
48	chr2:206458400-206459600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr2:206458600-206459000	Enhancers	HSMM	muscle
50	chr2:206458600-206459000	Enhancers	Osteobl	bone

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