Variant report

Variant	nsv876596
Chromosome Location	chr3:19653387-19837587
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:19829915..19832031-chr3:19834488..19836078,2	K562	blood:
2	chr3:19745768..19748356-chr3:19750935..19754447,3	K562	blood:
3	chr3:19829915..19832031-chr3:19834488..19836078,2	K562	blood:
4	chr3:19679630..19681949-chr3:19683459..19685004,2	K562	blood:
5	chr3:19745768..19748356-chr3:19750935..19754447,3	K562	blood:
6	chr3:19747542..19750159-chr3:19752091..19755330,3	MCF-7	breast:
7	chr3:19679630..19681949-chr3:19683459..19685004,2	K562	blood:
8	chr3:19801295..19803442-chr3:19807030..19809544,2	K562	blood:
9	chr3:19747542..19750159-chr3:19752091..19755330,3	MCF-7	breast:
10	chr3:19801295..19803442-chr3:19807030..19809544,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EFHB-1	chr3:19717560-19717598	XLOC_003064
2	lnc-EFHB-1	chr3:19729726-19729972	XLOC_003064

No data

Variant related genes	Relation type
ESYT1	miRNA target sites

Extended variants
information (count: 2443 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:2443 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547050042	chr3:19660467-19660468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs116210567	chr3:19660529-19660530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs145455777	chr3:19660577-19660578	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs149230970	chr3:19660587-19660588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs377346357	chr3:19660592-19660593	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs575490994	chr3:19660615-19660616	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs537064027	chr3:19660643-19660644	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs558236732	chr3:19660667-19660668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs576748238	chr3:19660688-19660689	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs540802852	chr3:19660718-19660719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs559389619	chr3:19660748-19660749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs183955417	chr3:19660753-19660754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs541997424	chr3:19660763-19660764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs563585428	chr3:19660764-19660765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs530792137	chr3:19660795-19660796	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs552563545	chr3:19660828-19660829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs564351639	chr3:19660840-19660841	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs111377025	chr3:19660852-19660853	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs528472763	chr3:19660853-19660854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs186578218	chr3:19660881-19660882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs139945590	chr3:19660903-19660904	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs551130322	chr3:19660953-19660954	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs535658792	chr3:19660956-19660957	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs370164076	chr3:19660972-19660973	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs550724751	chr3:19660976-19660977	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs142445178	chr3:19672408-19672409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554406352	chr3:19672425-19672426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189847003	chr3:19672470-19672471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543278206	chr3:19672500-19672501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558805885	chr3:19672516-19672517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6787710	chr3:19672573-19672574	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs541338377	chr3:19672612-19672613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112890017	chr3:19672649-19672650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559684604	chr3:19672675-19672676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530081597	chr3:19672723-19672724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542192824	chr3:19672724-19672725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563659186	chr3:19672766-19672767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531056303	chr3:19672789-19672790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs13071260	chr3:19672807-19672808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs13071268	chr3:19672821-19672822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552218619	chr3:19672849-19672850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570719651	chr3:19672860-19672861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528614180	chr3:19672862-19672863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181109738	chr3:19672863-19672864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs9857864	chr3:19672864-19672865	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs535901892	chr3:19672877-19672878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115971877	chr3:19672913-19672914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569519756	chr3:19672928-19672929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs62278787	chr3:19672936-19672937	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs558642404	chr3:19672965-19672966	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:205 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:19660400-19661000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:19660600-19660800	ZNF genes & repeats	Pancreas	Pancrea
3	chr3:19672400-19674400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr3:19673600-19674200	Enhancers	GM12878-XiMat	blood
5	chr3:19673600-19674400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr3:19673600-19674800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr3:19674000-19674400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr3:19674000-19674400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:19674000-19674600	Enhancers	H9 Cell Line	embryonic stem cell
10	chr3:19674000-19674600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:19674000-19674800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr3:19674200-19675000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr3:19683000-19683200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:19683200-19686600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:19685200-19686600	Enhancers	Primary B cells from peripheral blood	blood
16	chr3:19685800-19686600	ZNF genes & repeats	GM12878-XiMat	blood
17	chr3:19686200-19686800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:19686400-19687200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr3:19686600-19686800	Active TSS	GM12878-XiMat	blood
20	chr3:19686800-19687000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:19686800-19687000	Flanking Active TSS	GM12878-XiMat	blood
22	chr3:19687000-19687200	Enhancers	GM12878-XiMat	blood
23	chr3:19693400-19694400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr3:19693600-19694000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr3:19693600-19694000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr3:19693600-19694200	Enhancers	H9 Cell Line	embryonic stem cell
27	chr3:19693600-19694400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:19693600-19694600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr3:19693600-19694600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr3:19693600-19695000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr3:19693800-19694800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr3:19694000-19695000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr3:19694400-19695000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr3:19694400-19696400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:19694600-19695000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:19696400-19697000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr3:19697400-19697800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:19712800-19713000	Weak transcription	Spleen	Spleen
39	chr3:19713000-19713400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:19724000-19724200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr3:19724200-19743600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr3:19727800-19728200	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr3:19730200-19730800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr3:19740000-19741600	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr3:19740200-19740600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr3:19740200-19740800	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr3:19740200-19741000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:19740200-19741400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr3:19740600-19743600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr3:19741000-19741200	Enhancers	Aorta	Aorta

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