Variant report

Variant	esv3515323
Chromosome Location	chr2:152797406-152800404
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152793920..152795775-chr2:152797022..152799069,2	K562	blood:
2	chr2:152683465..152686102-chr2:152798913..152801976,3	MCF-7	breast:
3	chr2:152796099..152798209-chr2:152806620..152808835,2	K562	blood:
4	chr2:152789335..152791707-chr2:152796780..152799093,2	K562	blood:
5	chr2:152783633..152785944-chr2:152799398..152801724,2	MCF-7	breast:
6	chr2:152783024..152785714-chr2:152800210..152802365,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162980	chromatin interactions

Extended variants
information (count: 114 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542544075	chr2:152797446-152797447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556057245	chr2:152797450-152797451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs57714309	chr2:152797483-152797484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs4510225	chr2:152797487-152797488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs564453656	chr2:152797520-152797521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190712265	chr2:152797535-152797536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543519036	chr2:152797603-152797604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557588996	chr2:152797655-152797656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374890010	chr2:152797741-152797742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555301180	chr2:152797773-152797774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149376883	chr2:152797788-152797789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11346045	chr2:152797790-152797791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562726982	chr2:152797796-152797797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111868177	chr2:152797800-152797801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs397871274	chr2:152797814-152797815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531354820	chr2:152797826-152797827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573687910	chr2:152797827-152797828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112179883	chr2:152797834-152797835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7579719	chr2:152797866-152797867	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs527331309	chr2:152798003-152798004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547502917	chr2:152798032-152798033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547347403	chr2:152798039-152798040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570487965	chr2:152798053-152798054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539534161	chr2:152798064-152798065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549582005	chr2:152798093-152798094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570274238	chr2:152798097-152798098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536047922	chr2:152798098-152798099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77897056	chr2:152798111-152798112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556143188	chr2:152798118-152798119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75562572	chr2:152798127-152798128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141117186	chr2:152798150-152798151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558160064	chr2:152798165-152798166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186012325	chr2:152798208-152798209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7607349	chr2:152798223-152798224	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs11685243	chr2:152798242-152798243	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs79975533	chr2:152798284-152798285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543898760	chr2:152798292-152798293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563399846	chr2:152798330-152798331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375182525	chr2:152798354-152798355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150239990	chr2:152798356-152798357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115853039	chr2:152798433-152798434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561675572	chr2:152798529-152798530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544326736	chr2:152798666-152798667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138938706	chr2:152798717-152798718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556400612	chr2:152798743-152798744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547338749	chr2:152798751-152798752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562063943	chr2:152798777-152798778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573733158	chr2:152798778-152798779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112324492	chr2:152798816-152798817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146317856	chr2:152798830-152798831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	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
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152792800-152803200	Weak transcription	Brain Angular Gyrus	brain
2	chr2:152793600-152800000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:152794400-152803600	Weak transcription	Psoas Muscle	Psoas
4	chr2:152796400-152799800	Weak transcription	HepG2	liver
5	chr2:152797200-152803000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:152799600-152804800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:152799800-152800400	ZNF genes & repeats	HepG2	liver
8	chr2:152799800-152801400	Enhancers	NHEK	skin
9	chr2:152799800-152804200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:152799800-152804800	Enhancers	HMEC	breast
11	chr2:152800000-152804000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:152800200-152800400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
13	chr2:152800200-152804000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:152800400-152801400	Weak transcription	HepG2	liver
15	chr2:152800400-152802400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:152800400-152803800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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