Variant report

Variant	nsv829576
Chromosome Location	chr2:95734193-95736415
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:95724354..95726435-chr2:95734944..95737851,2	MCF-7	breast:
2	chr2:95734957..95736843-chr2:95739630..95742523,2	K562	blood:
3	chr2:95734800..95737565-chr2:95824540..95826523,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144026	chromatin interactions

Extended variants
information (count: 71 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148746300	chr2:95734214-95734215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372133468	chr2:95734215-95734216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs59021305	chr2:95734217-95734218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs3105103	chr2:95734218-95734219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
5	rs555269195	chr2:95734227-95734228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575172103	chr2:95734296-95734297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77332441	chr2:95734330-95734331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559297346	chr2:95734350-95734351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187949654	chr2:95734400-95734401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528114855	chr2:95734422-95734423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545046457	chr2:95734451-95734452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs13005775	chr2:95734474-95734475	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs191993852	chr2:95734479-95734480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs13005783	chr2:95734485-95734486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550374589	chr2:95734574-95734575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567155015	chr2:95734609-95734610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2320619	chr2:95734623-95734624	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs546620416	chr2:95734755-95734756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566820427	chr2:95734787-95734788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184544853	chr2:95734796-95734797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141792744	chr2:95734802-95734803	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs397976588	chr2:95734812-95734813	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs151306160	chr2:95734967-95734968	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs187657916	chr2:95734997-95734998	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs554528881	chr2:95734998-95734999	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs555179455	chr2:95735011-95735012	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs573191699	chr2:95735012-95735013	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs540403750	chr2:95735032-95735033	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs34986561	chr2:95735073-95735074	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs192658100	chr2:95735092-95735093	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs2320620	chr2:95735140-95735141	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs569669783	chr2:95735163-95735164	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs185000815	chr2:95735168-95735169	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs536622603	chr2:95735172-95735173	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs572749854	chr2:95735210-95735211	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs140647016	chr2:95735231-95735232	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs564956927	chr2:95735233-95735234	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs530503364	chr2:95735266-95735267	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs374300811	chr2:95735286-95735287	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs560742652	chr2:95735308-95735309	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs529850944	chr2:95735312-95735313	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs546828246	chr2:95735318-95735319	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs566677461	chr2:95735435-95735436	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs189065021	chr2:95735457-95735458	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs552273673	chr2:95735458-95735459	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs569302833	chr2:95735478-95735479	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs375729607	chr2:95735483-95735484	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs377251300	chr2:95735504-95735505	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs180974993	chr2:95735551-95735552	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs532385399	chr2:95735574-95735575	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:47)

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
Neuroblastoma	18574593	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

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95729600-95737200	Weak transcription	Brain Angular Gyrus	brain
2	chr2:95729800-95734400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:95729800-95734600	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:95729800-95737800	Weak transcription	Primary T cells from cord blood	blood
5	chr2:95729800-95740600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:95732200-95742400	Weak transcription	Pancreas	Pancrea
7	chr2:95733400-95742400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:95733800-95734600	Enhancers	Brain Substantia Nigra	brain
9	chr2:95734000-95734600	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr2:95734200-95742400	Weak transcription	Right Atrium	heart
11	chr2:95734400-95734800	Enhancers	Brain Cingulate Gyrus	brain
12	chr2:95734600-95735800	Enhancers	Brain Hippocampus Middle	brain
13	chr2:95734600-95737200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:95734600-95737400	Weak transcription	Brain Substantia Nigra	brain
15	chr2:95734800-95737400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:95735000-95735200	Bivalent Enhancer	HepG2	liver
17	chr2:95735200-95735800	Flanking Bivalent TSS/Enh	HepG2	liver
18	chr2:95735400-95735600	Enhancers	Fetal Thymus	thymus
19	chr2:95735600-95737600	Weak transcription	Fetal Thymus	thymus
20	chr2:95735800-95737200	Weak transcription	Brain Hippocampus Middle	brain

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