Variant report

Variant	esv3492420
Chromosome Location	chr2:19987151-19987908
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:19983582..19988390-chr2:19994942..20000184,6	MCF-7	breast:
2	chr2:19987455..19988268-chr2:150183980..150184861,2	MCF-7	breast:
3	chr2:19984950..19987899-chr2:19994485..19997173,2	K562	blood:
4	chr2:19986165..19988032-chr2:20101157..20102793,2	K562	blood:

Variant related genes	Relation type
ENSG00000183891	chromatin interactions
ENSG00000271991	chromatin interactions

Extended variants
information (count: 42 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544485865	chr2:19987156-19987157	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs534439591	chr2:19987157-19987158	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs150382355	chr2:19987267-19987268	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs529611227	chr2:19987271-19987272	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs555873604	chr2:19987300-19987301	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs546284889	chr2:19987308-19987309	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs138103150	chr2:19987312-19987313	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs375458992	chr2:19987317-19987318	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs532101088	chr2:19987351-19987352	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs1204006	chr2:19987368-19987369	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs548880495	chr2:19987392-19987393	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs569052898	chr2:19987421-19987422	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs1204005	chr2:19987440-19987441	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs143404663	chr2:19987449-19987450	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs555426971	chr2:19987453-19987454	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs147150513	chr2:19987489-19987490	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs77550590	chr2:19987501-19987502	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs553082828	chr2:19987507-19987508	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs573234278	chr2:19987514-19987515	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs138719893	chr2:19987526-19987527	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs77359133	chr2:19987552-19987553	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs74824012	chr2:19987573-19987574	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs142753257	chr2:19987611-19987612	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs144762918	chr2:19987626-19987627	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs577823283	chr2:19987648-19987649	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs530338952	chr2:19987661-19987662	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs540965820	chr2:19987663-19987664	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs184924663	chr2:19987689-19987690	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs532163190	chr2:19987728-19987729	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs574219649	chr2:19987732-19987733	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs192310794	chr2:19987737-19987738	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs183741557	chr2:19987746-19987747	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs114729220	chr2:19987754-19987755	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs148563327	chr2:19987792-19987793	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs533840677	chr2:19987793-19987794	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs554062111	chr2:19987807-19987808	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs566736680	chr2:19987808-19987809	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs370477234	chr2:19987810-19987811	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs558596246	chr2:19987811-19987812	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs575336232	chr2:19987825-19987826	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs368874073	chr2:19987870-19987871	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs187032235	chr2:19987878-19987879	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Neuroblastoma	19638189	CNVD
Neuroblastoma	19435921	CNVD
Neuroblastoma	18574593	CNVD
Acute myeloid leukemia	18000384	CNVD
Medulloblastoma	16968546	CNVD
Medulloblastoma	22160402	CNVD
Schizophrenia	22118685	CNVD
Epilepsy	22118685	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	17908972	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	18765546	CNVD
Neuroblastoma	18281664	CNVD
Neuroblastoma	17289879	CNVD
Neuroblastoma	19738985	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:19984200-19987800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:19984600-19987800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr2:19984800-19987200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:19984800-19987200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:19985200-19987200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:19985200-19987200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:19985200-19987200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:19985200-19990200	Weak transcription	Right Atrium	heart
9	chr2:19985400-19987200	Enhancers	NHLF	lung
10	chr2:19985400-19987400	Enhancers	HSMM	muscle
11	chr2:19985400-19987800	Enhancers	A549	lung
12	chr2:19985600-19987400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:19985800-19987200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr2:19985800-19987200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr2:19985800-19987600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:19986000-19987800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:19986000-19988000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr2:19986200-19987200	Enhancers	Placenta	Placenta
19	chr2:19986400-19987600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr2:19986400-19987600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr2:19986600-19987200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:19986600-19987400	Enhancers	H9 Cell Line	embryonic stem cell
23	chr2:19986800-19987600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:19986800-19987600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:19986800-19987600	Enhancers	K562	blood
26	chr2:19986800-20001800	Weak transcription	Aorta	Aorta
27	chr2:19987000-19988000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr2:19987000-19988000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr2:19987000-19989800	Weak transcription	HSMMtube	muscle
30	chr2:19987200-19996200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:19987400-19988600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:19987400-19989600	Weak transcription	HSMM	muscle
33	chr2:19987600-19991800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:19987800-19996800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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