Variant report

Variant	esv14131
Chromosome Location	chr2:96727246-96733710
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:96729388..96731079-chr2:96873291..96874910,2	K562	blood:
2	chr2:96729021..96729821-chr2:98313504..98314366,3	MCF-7	breast:
3	chr2:96732634..96735497-chr2:98280475..98282545,2	MCF-7	breast:
4	chr2:96731019..96733745-chr2:98305236..98308160,2	MCF-7	breast:
5	chr2:96727840..96729450-chr2:98278823..98282139,3	MCF-7	breast:
6	chr2:96730056..96731818-chr2:96841828..96843515,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000201806	chromatin interactions
ENSG00000084090	chromatin interactions
ENSG00000115073	chromatin interactions
ENSG00000228486	chromatin interactions
ENSG00000204685	chromatin interactions

Extended variants
information (count: 221 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:221 , 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	rs180820794	chr2:96727252-96727253	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs553937260	chr2:96727256-96727257	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs369924324	chr2:96727258-96727259	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs397834867	chr2:96727305-96727306	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs185222647	chr2:96727356-96727357	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs372327861	chr2:96727369-96727370	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs192131589	chr2:96727403-96727404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140789689	chr2:96727423-96727424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182146126	chr2:96727442-96727443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560997498	chr2:96727482-96727483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs199629040	chr2:96727485-96727486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540478318	chr2:96727521-96727522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186865717	chr2:96727530-96727531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560394656	chr2:96727575-96727576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532295280	chr2:96727639-96727640	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545796750	chr2:96727676-96727677	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562776901	chr2:96727683-96727684	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531637991	chr2:96727739-96727740	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548161986	chr2:96727743-96727744	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568256221	chr2:96727765-96727766	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527783023	chr2:96727777-96727778	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138596061	chr2:96727794-96727795	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570972405	chr2:96727819-96727820	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539995029	chr2:96727841-96727842	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs2438964	chr2:96727850-96727851	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs141733121	chr2:96727870-96727871	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs114567095	chr2:96727895-96727896	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs386648372	chr2:96727907-96727908	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs6423686	chr2:96727908-96727909	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
30	rs191658550	chr2:96727954-96727955	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs55862224	chr2:96727959-96727960	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs553870945	chr2:96727980-96727981	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs183154903	chr2:96728024-96728025	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs545957059	chr2:96728025-96728026	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs562674796	chr2:96728031-96728032	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs369426664	chr2:96728040-96728041	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs187088123	chr2:96728110-96728111	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs561755488	chr2:96728133-96728134	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs527644560	chr2:96728159-96728160	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs547507358	chr2:96728336-96728337	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs570901598	chr2:96728397-96728398	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs533392622	chr2:96728434-96728435	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs550337257	chr2:96728581-96728582	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs570298433	chr2:96728657-96728658	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs536156229	chr2:96728772-96728773	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs556057497	chr2:96728926-96728927	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs568080663	chr2:96728928-96728929	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs533744512	chr2:96728940-96728941	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs76741791	chr2:96728972-96728973	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs553616783	chr2:96729001-96729002	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96726200-96727600	Enhancers	Fetal Muscle Trunk	muscle
2	chr2:96726400-96727400	Weak transcription	Brain Anterior Caudate	brain
3	chr2:96726400-96729200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:96726400-96730800	Weak transcription	Spleen	Spleen
5	chr2:96726400-96731200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:96726600-96727800	Weak transcription	HMEC	breast
7	chr2:96726600-96729200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:96726600-96731000	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:96727200-96727400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:96727200-96727400	Flanking Active TSS	HepG2	liver
11	chr2:96727200-96727800	Enhancers	HSMM	muscle
12	chr2:96727200-96728000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:96727200-96728400	Enhancers	Brain Angular Gyrus	brain
14	chr2:96727200-96730200	Enhancers	Brain Cingulate Gyrus	brain
15	chr2:96727200-96730400	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr2:96727400-96728000	Enhancers	Brain Anterior Caudate	brain
17	chr2:96727400-96729000	Enhancers	HepG2	liver
18	chr2:96727400-96730000	Enhancers	Brain Hippocampus Middle	brain
19	chr2:96727400-96732800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:96727600-96727800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:96727600-96728000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:96727800-96728000	Enhancers	A549	lung
23	chr2:96727800-96728000	Enhancers	HSMMtube	muscle
24	chr2:96727800-96728200	Enhancers	Brain Substantia Nigra	brain
25	chr2:96727800-96728600	Weak transcription	HSMM	muscle
26	chr2:96727800-96729600	Enhancers	HMEC	breast
27	chr2:96728000-96729000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:96728000-96729000	Weak transcription	A549	lung
29	chr2:96728000-96729200	Weak transcription	Brain Anterior Caudate	brain
30	chr2:96728000-96729200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:96728000-96729400	Weak transcription	HSMMtube	muscle
32	chr2:96728200-96733800	Weak transcription	Brain Substantia Nigra	brain
33	chr2:96728400-96728800	Weak transcription	Brain Angular Gyrus	brain
34	chr2:96728600-96730200	Enhancers	HSMM	muscle
35	chr2:96728800-96729600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:96728800-96730200	Enhancers	Brain Angular Gyrus	brain
37	chr2:96729000-96729200	Active TSS	Hela-S3	cervix
38	chr2:96729000-96729400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:96729000-96729400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:96729000-96729400	Enhancers	A549	lung
41	chr2:96729000-96729400	Flanking Active TSS	HepG2	liver
42	chr2:96729000-96729600	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr2:96729000-96730200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:96729200-96729400	Enhancers	GM12878-XiMat	blood
45	chr2:96729200-96729400	Flanking Active TSS	Hela-S3	cervix
46	chr2:96729200-96729400	Enhancers	NH-A	brain
47	chr2:96729200-96729600	Enhancers	H1 Cell Line	embryonic stem cell
48	chr2:96729200-96729600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:96729200-96729600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:96729200-96729600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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