Variant report

Variant	esv2597607
Chromosome Location	chr2:151030033-151031635
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	chr2:151015327..151017230-chr2:151030179..151032620,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574663801	chr2:151030082-151030083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540298830	chr2:151030110-151030111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560548496	chr2:151030138-151030139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs397868777	chr2:151030246-151030247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576783430	chr2:151030271-151030272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545893773	chr2:151030310-151030311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562637500	chr2:151030347-151030348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111365610	chr2:151030350-151030351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548747913	chr2:151030365-151030366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562272127	chr2:151030366-151030367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528010633	chr2:151030376-151030377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547739374	chr2:151030389-151030390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs180868418	chr2:151030405-151030406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538592075	chr2:151030440-151030441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11693323	chr2:151030444-151030445	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs568965394	chr2:151030448-151030449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190540053	chr2:151030473-151030474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35176854	chr2:151030605-151030606	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs77765778	chr2:151030630-151030631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531732589	chr2:151030674-151030675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181643527	chr2:151030712-151030713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553734539	chr2:151030750-151030751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535232188	chr2:151030800-151030801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545782628	chr2:151030833-151030834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116587636	chr2:151030889-151030890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185917084	chr2:151030931-151030932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114525541	chr2:151030945-151030946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562323751	chr2:151031055-151031056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527841108	chr2:151031060-151031061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368931559	chr2:151031139-151031140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13398021	chr2:151031197-151031198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77495416	chr2:151031203-151031204	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs564767114	chr2:151031247-151031248	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs561970640	chr2:151031275-151031276	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs532187991	chr2:151031329-151031330	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs552188982	chr2:151031337-151031338	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs372545011	chr2:151031342-151031343	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs569004135	chr2:151031402-151031403	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs190378250	chr2:151031440-151031441	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs144859062	chr2:151031457-151031458	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs568246308	chr2:151031459-151031460	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
lymphocytic leukemia	21291569	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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151025400-151030600	Weak transcription	HUVEC	blood vessel
2	chr2:151026400-151030600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:151026400-151030600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:151026600-151031200	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:151026800-151030600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:151026800-151030600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:151028600-151030600	Weak transcription	Fetal Kidney	kidney
8	chr2:151029200-151031400	Enhancers	A549	lung
9	chr2:151029400-151031400	Enhancers	Liver	Liver
10	chr2:151030600-151030800	Enhancers	HSMMtube	muscle
11	chr2:151030600-151031000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:151030600-151031000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:151030600-151031400	Enhancers	Fetal Kidney	kidney
14	chr2:151030600-151031400	Enhancers	HUVEC	blood vessel
15	chr2:151030600-151031800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:151030600-151032000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:151030600-151032200	Enhancers	Fetal Lung	lung
18	chr2:151030800-151031200	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr2:151030800-151032200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr2:151030800-151032400	Enhancers	Fetal Intestine Large	intestine
21	chr2:151031200-151031600	Enhancers	Colon Smooth Muscle	Colon
22	chr2:151031200-151031600	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr2:151031400-151031800	Flanking Active TSS	Liver	Liver
24	chr2:151031400-151031800	Weak transcription	Fetal Kidney	kidney
25	chr2:151031400-151031800	Flanking Active TSS	A549	lung
26	chr2:151031600-151031800	Enhancers	HSMMtube	muscle
27	chr2:151031600-151032000	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr2:151031600-151032000	Enhancers	HSMM	muscle
29	chr2:151031600-151034800	Weak transcription	Colon Smooth Muscle	Colon

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