Variant report

Variant	esv3350211
Chromosome Location	chr2:67897948-67901146
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 159 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560450424	chr2:67897960-67897961	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191450239	chr2:67897965-67897966	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530695067	chr2:67898037-67898038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78185553	chr2:67898041-67898042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371747718	chr2:67898047-67898048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563641564	chr2:67898090-67898091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76316246	chr2:67898111-67898112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184756045	chr2:67898205-67898206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189660018	chr2:67898220-67898221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181301046	chr2:67898230-67898231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563201343	chr2:67898347-67898348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528618582	chr2:67898355-67898356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs17040168	chr2:67898389-67898390	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs79803227	chr2:67898394-67898395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6709374	chr2:67898478-67898479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565289763	chr2:67898502-67898503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537310184	chr2:67898573-67898574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148505395	chr2:67898583-67898584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566873902	chr2:67898601-67898602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186828633	chr2:67898689-67898690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189146370	chr2:67898694-67898695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs17040171	chr2:67898711-67898712	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs545117300	chr2:67898729-67898730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs72905798	chr2:67898733-67898734	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs575412216	chr2:67898738-67898739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181855002	chr2:67898746-67898747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561171138	chr2:67898748-67898749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574834780	chr2:67898764-67898765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112227559	chr2:67898768-67898769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543037373	chr2:67898770-67898771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186538701	chr2:67898800-67898801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369589633	chr2:67898911-67898912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113039350	chr2:67898918-67898919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547892417	chr2:67898922-67898923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189805580	chr2:67898933-67898934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs72621585	chr2:67898936-67898937	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs78366561	chr2:67898972-67898973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs56209192	chr2:67898973-67898974	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs567610141	chr2:67898993-67898994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536583176	chr2:67898997-67898998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs72905801	chr2:67898999-67899000	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs150798483	chr2:67899000-67899001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538321305	chr2:67899023-67899024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558631181	chr2:67899025-67899026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575300261	chr2:67899028-67899029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538038837	chr2:67899043-67899044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538553640	chr2:67899067-67899068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs367687767	chr2:67899099-67899100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377063016	chr2:67899105-67899106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554847773	chr2:67899106-67899107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67893200-67903600	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr2:67893600-67903000	Weak transcription	Left Ventricle	heart
3	chr2:67893800-67899200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:67894000-67899000	Weak transcription	Right Ventricle	heart
5	chr2:67894800-67899200	Weak transcription	Fetal Lung	lung
6	chr2:67895600-67898200	Weak transcription	Psoas Muscle	Psoas
7	chr2:67895600-67899000	Weak transcription	Right Atrium	heart
8	chr2:67896000-67898000	Enhancers	Fetal Stomach	stomach
9	chr2:67896600-67899200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:67896800-67898400	Enhancers	Fetal Kidney	kidney
11	chr2:67897200-67900400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr2:67897600-67898400	Enhancers	Fetal Muscle Leg	muscle
13	chr2:67897600-67899200	Weak transcription	Fetal Brain Male	brain
14	chr2:67897600-67899200	Enhancers	Fetal Intestine Large	intestine
15	chr2:67897800-67898000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:67898000-67898200	Enhancers	Hela-S3	cervix
17	chr2:67898000-67899200	Enhancers	HepG2	liver
18	chr2:67898000-67899400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:67898200-67898400	Enhancers	Psoas Muscle	Psoas
20	chr2:67898200-67898400	Enhancers	Spleen	Spleen
21	chr2:67898400-67899000	Weak transcription	Psoas Muscle	Psoas
22	chr2:67898400-67899200	Weak transcription	Fetal Kidney	kidney
23	chr2:67898400-67899400	Weak transcription	Spleen	Spleen
24	chr2:67898600-67899200	Enhancers	GM12878-XiMat	blood
25	chr2:67898800-67899000	Weak transcription	Pancreas	Pancrea
26	chr2:67899000-67899200	Enhancers	Pancreas	Pancrea
27	chr2:67899000-67899600	Enhancers	Psoas Muscle	Psoas
28	chr2:67899000-67900000	Enhancers	Right Atrium	heart
29	chr2:67899000-67900200	Enhancers	Right Ventricle	heart
30	chr2:67899200-67899400	Enhancers	Gastric	stomach
31	chr2:67899200-67899400	Flanking Active TSS	GM12878-XiMat	blood
32	chr2:67899200-67899800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:67899200-67899800	ZNF genes & repeats	Fetal Brain Male	brain
34	chr2:67899200-67899800	Genic enhancers	Pancreas	Pancrea
35	chr2:67899200-67900000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:67899200-67900000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:67899200-67900000	ZNF genes & repeats	Fetal Kidney	kidney
38	chr2:67899200-67900200	Active TSS	Fetal Lung	lung
39	chr2:67899400-67899800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:67899400-67900000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr2:67899400-67900000	Flanking Active TSS	Gastric	stomach
42	chr2:67899400-67900000	Enhancers	Spleen	Spleen
43	chr2:67899600-67901000	Weak transcription	Psoas Muscle	Psoas
44	chr2:67899800-67900000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:67899800-67900000	Enhancers	Pancreas	Pancrea
46	chr2:67900000-67900200	Flanking Active TSS	Fetal Kidney	kidney
47	chr2:67900000-67900600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:67900000-67901200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:67900000-67901200	Weak transcription	Right Atrium	heart
50	chr2:67900400-67900800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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