Variant report

Variant	nsv438363
Chromosome Location	chr2:98872039-98885925
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:98424321..98425194-chr2:98885366..98886224,2	K562	blood:
2	chr2:98316350..98317297-chr2:98885417..98886570,3	MCF-7	breast:
3	chr2:98611818..98613602-chr2:98884042..98885781,2	MCF-7	breast:
4	chr2:98422785..98423811-chr2:98885571..98886436,3	MCF-7	breast:
5	chr2:98885600..98886159-chr2:99001199..99001715,2	MCF-7	breast:
6	chr2:98868004..98870745-chr2:98873730..98876518,2	K562	blood:
7	chr2:98326087..98326680-chr2:98885400..98886287,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075568	chromatin interactions

Extended variants
information (count: 210 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:210 , 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	rs4851122	chr2:98872039-98872040	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541729626	chr2:98872053-98872054	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs185109477	chr2:98872054-98872055	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs543753414	chr2:98872104-98872105	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs535784877	chr2:98872113-98872114	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs555520986	chr2:98872137-98872138	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs187980673	chr2:98872139-98872140	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs143854319	chr2:98875433-98875434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377415258	chr2:98875440-98875441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559042063	chr2:98875629-98875630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572749516	chr2:98875630-98875631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147316210	chr2:98875646-98875647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62156738	chr2:98875836-98875837	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs62156739	chr2:98875910-98875911	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs551322644	chr2:98875914-98875915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181532200	chr2:98875959-98875960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62156740	chr2:98875977-98875978	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs142471068	chr2:98875992-98875993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs151299376	chr2:98876045-98876046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139379523	chr2:98876047-98876048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552287903	chr2:98876092-98876093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567246645	chr2:98876173-98876174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371520434	chr2:98876183-98876184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149681655	chr2:98876203-98876204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556851753	chr2:98876261-98876262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573472024	chr2:98876264-98876265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536039055	chr2:98876349-98876350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552989715	chr2:98876379-98876380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572841766	chr2:98876446-98876447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62156741	chr2:98876448-98876449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs576075707	chr2:98876469-98876470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558244970	chr2:98876543-98876544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546398694	chr2:98876597-98876598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146696425	chr2:98876611-98876612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544894433	chr2:98876671-98876672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561571262	chr2:98876696-98876697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530278245	chr2:98876815-98876816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185375750	chr2:98876869-98876870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571103252	chr2:98876941-98876942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539972620	chr2:98877036-98877037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62156742	chr2:98877050-98877051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs75933467	chr2:98877051-98877052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552676873	chr2:98877052-98877053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569124409	chr2:98877054-98877055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531617537	chr2:98877093-98877094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550411557	chr2:98877094-98877095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567230422	chr2:98877121-98877122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536179013	chr2:98877175-98877176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559806489	chr2:98877207-98877208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140220302	chr2:98877245-98877246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22522925	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98872000-98872200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:98872000-98872200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:98875400-98878000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:98878000-98880400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:98885400-98887200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:98885600-98886200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:98885600-98886200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:98885600-98886200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:98885600-98886400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:98885600-98886600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:98885600-98892200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:98885800-98886000	Enhancers	Colon Smooth Muscle	Colon
13	chr2:98885800-98886200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:98885800-98886600	Enhancers	Aorta	Aorta

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