Variant report

Variant	esv3458828
Chromosome Location	chr2:184085448-184091038
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	chr2:184081982..184083602-chr2:184085454..184088398,2	K562	blood:
2	chr2:184090996..184094038-chr2:184094574..184096759,3	K562	blood:

Extended variants
information (count: 196 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:196 , 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	rs72898591	chr2:184085488-184085489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555567605	chr2:184085529-184085530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115569077	chr2:184085531-184085532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201892162	chr2:184085533-184085534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11384435	chr2:184085548-184085549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs397775153	chr2:184085550-184085551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201727656	chr2:184085551-184085552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78759346	chr2:184085575-184085576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373925778	chr2:184085582-184085583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574335281	chr2:184085607-184085608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536560109	chr2:184085680-184085681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557967159	chr2:184085688-184085689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561301404	chr2:184085737-184085738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs17758247	chr2:184085788-184085789	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs189314659	chr2:184085826-184085827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78079902	chr2:184085859-184085860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs33930341	chr2:184085888-184085889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181221663	chr2:184085938-184085939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532378877	chr2:184085945-184085946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369935732	chr2:184086004-184086005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573940895	chr2:184086016-184086017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542685811	chr2:184086057-184086058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559386874	chr2:184086090-184086091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572921422	chr2:184086091-184086092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544759693	chr2:184086126-184086127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545826552	chr2:184086144-184086145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143895752	chr2:184086205-184086206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533380224	chr2:184086208-184086209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549913040	chr2:184086218-184086219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7576936	chr2:184086289-184086290	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs147305334	chr2:184086292-184086293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377433422	chr2:184086319-184086320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548995431	chr2:184086334-184086335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565923045	chr2:184086363-184086364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7603511	chr2:184086397-184086398	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs572255535	chr2:184086424-184086425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185658720	chr2:184086437-184086438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547549900	chr2:184086462-184086463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537252795	chr2:184086556-184086557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112455071	chr2:184086560-184086561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188905043	chr2:184086582-184086583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536527105	chr2:184086595-184086596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552967208	chr2:184086646-184086647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140139341	chr2:184086687-184086688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572763585	chr2:184086709-184086710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544959191	chr2:184086764-184086765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564830161	chr2:184086796-184086797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575256602	chr2:184086797-184086798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561132624	chr2:184086814-184086815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79719592	chr2:184086931-184086932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Intellectual disability	22102821	CNVD
Autism	18522746	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184050400-184091600	Weak transcription	Psoas Muscle	Psoas
2	chr2:184072600-184094000	Weak transcription	HSMM	muscle
3	chr2:184082400-184091400	Weak transcription	Primary T cells from cord blood	blood
4	chr2:184085200-184089600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:184085200-184097000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:184086800-184087600	Enhancers	HSMMtube	muscle
7	chr2:184087200-184087800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:184087400-184087800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr2:184087400-184087800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:184087400-184089800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:184087600-184094000	Weak transcription	HSMMtube	muscle
12	chr2:184089400-184090200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:184089400-184092400	Enhancers	Fetal Brain Male	brain
14	chr2:184089400-184093000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:184089600-184090000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr2:184089600-184090000	Enhancers	Fetal Lung	lung
17	chr2:184089600-184090200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:184089600-184090200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:184089600-184090200	Enhancers	Fetal Brain Female	brain
20	chr2:184089600-184090200	Enhancers	Osteobl	bone
21	chr2:184089600-184090400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:184089600-184090400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr2:184089600-184093000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr2:184089800-184090000	Enhancers	Fetal Muscle Leg	muscle
25	chr2:184089800-184090200	Enhancers	Brain Angular Gyrus	brain
26	chr2:184089800-184090200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr2:184089800-184090200	Enhancers	Brain Substantia Nigra	brain
28	chr2:184089800-184090200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr2:184090000-184090200	Enhancers	Brain Hippocampus Middle	brain
30	chr2:184090200-184091600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:184090200-184091600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr2:184090200-184094000	Weak transcription	Osteobl	bone
33	chr2:184090200-184095800	Weak transcription	Brain Hippocampus Middle	brain
34	chr2:184090400-184091600	Weak transcription	Fetal Muscle Leg	muscle
35	chr2:184090400-184094000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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