Variant report

Variant	nsv822683
Chromosome Location	chr4:110569946-110570796
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110568027..110570287-chr4:110582225..110584531,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CASP6-3	chr4:110570571-110571385	ucscGeneNc_uc003hzj_2

Extended variants
information (count: 36 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142483661	chr4:110569982-110569983	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs570231487	chr4:110569998-110569999	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs574897972	chr4:110570001-110570002	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368231643	chr4:110570088-110570089	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs386678326	chr4:110570090-110570091	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9996730	chr4:110570095-110570096	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs116006657	chr4:110570109-110570110	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566154090	chr4:110570112-110570113	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144942868	chr4:110570140-110570141	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs33969161	chr4:110570143-110570144	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371317185	chr4:110570147-110570148	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75294807	chr4:110570169-110570170	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9996648	chr4:110570180-110570181	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs143948524	chr4:110570211-110570212	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185150388	chr4:110570231-110570232	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556858360	chr4:110570243-110570244	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115126645	chr4:110570251-110570252	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1029449	chr4:110570267-110570268	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs570131180	chr4:110570312-110570313	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs56839186	chr4:110570313-110570314	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552933684	chr4:110570315-110570316	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572892366	chr4:110570369-110570370	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148256809	chr4:110570375-110570376	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564860866	chr4:110570434-110570435	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374707350	chr4:110570444-110570445	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575329869	chr4:110570492-110570493	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373397696	chr4:110570523-110570524	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74672861	chr4:110570615-110570616	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
29	rs1029450	chr4:110570619-110570620	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs75727358	chr4:110570631-110570632	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
31	rs141262644	chr4:110570665-110570666	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
32	rs79848939	chr4:110570735-110570736	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
33	rs542210941	chr4:110570756-110570757	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
34	rs150759826	chr4:110570759-110570760	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
35	rs188678547	chr4:110570771-110570772	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
36	rs551473875	chr4:110570787-110570788	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Esophageal cancer	21851588	CNVD
Melanoma	20688739	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16397240	CNVD
Schizophrenia	19546859	CNVD
Colorectal cancer	16272173	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110533000-110573000	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr4:110546600-110580600	Weak transcription	Thymus	Thymus
3	chr4:110565800-110576600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:110567200-110570000	Weak transcription	Fetal Thymus	thymus
5	chr4:110567400-110570000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr4:110567800-110570000	Weak transcription	HSMM	muscle
7	chr4:110568400-110573600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:110569000-110570000	Enhancers	Primary B cells from peripheral blood	blood
9	chr4:110569000-110570800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:110569400-110570400	Active TSS	Primary T cells fromperipheralblood	blood
11	chr4:110569400-110570600	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr4:110569400-110571200	Flanking Active TSS	GM12878-XiMat	blood
13	chr4:110569600-110570000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr4:110569600-110570200	Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr4:110569600-110570800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr4:110569600-110572200	Weak transcription	Primary B cells from cord blood	blood
17	chr4:110569800-110570000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
18	chr4:110569800-110570000	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr4:110569800-110570200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr4:110569800-110570200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr4:110569800-110570200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr4:110569800-110570200	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr4:110569800-110570400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr4:110569800-110570400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr4:110569800-110570800	Enhancers	HUVEC	blood vessel
26	chr4:110569800-110571400	ZNF genes & repeats	Dnd41	blood
27	chr4:110569800-110573200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr4:110569800-110573200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr4:110570000-110570400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr4:110570000-110570400	Strong transcription	HSMM	muscle
31	chr4:110570000-110570600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
32	chr4:110570000-110570800	Strong transcription	Primary hematopoietic stem cells	blood
33	chr4:110570000-110571400	Strong transcription	Fetal Thymus	thymus
34	chr4:110570000-110571600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr4:110570000-110572600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr4:110570200-110570600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr4:110570200-110570600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr4:110570200-110570800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr4:110570200-110570800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr4:110570200-110571200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr4:110570400-110570600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr4:110570400-110570600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr4:110570400-110571400	Enhancers	Primary T cells fromperipheralblood	blood
44	chr4:110570400-110573200	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr4:110570400-110582000	Weak transcription	HSMM	muscle
46	chr4:110570600-110571000	Enhancers	Primary T cells from cord blood	blood
47	chr4:110570600-110571000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr4:110570600-110571000	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr4:110570600-110572200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr4:110570600-110572400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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