Variant report

Variant	esv3419480
Chromosome Location	chr4:110521397-110549622
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:3)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:110518488..110520568-chr4:110541257..110543563,2	K562	blood:
2	chr4:110353186..110356088-chr4:110535620..110537677,2	K562	blood:
3	chr4:110535854..110537402-chr4:110608353..110610613,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CASP6-4	chr4:110547179-110547288	ucscGeneNc_uc003hzi_1
2	lnc-CASP6-4	chr4:110546255-110546378	ucscGeneNc_uc003hzi_1
3	lnc-CASP6-4	chr4:110536799-110536884	ucscGeneNc_uc003hzi_1

No data

Variant related genes	Relation type
ENSG00000247950	chromatin interactions
ENSG00000138802	chromatin interactions

Extended variants
information (count: 1104 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1104 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550998610	chr4:110521405-110521406	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs35041399	chr4:110521411-110521412	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs570776961	chr4:110521442-110521443	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs33966365	chr4:110521459-110521460	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs549917045	chr4:110521462-110521463	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs148289720	chr4:110521464-110521465	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs368496063	chr4:110521467-110521468	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs183063981	chr4:110521469-110521470	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs187353591	chr4:110521509-110521510	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs197216	chr4:110521516-110521517	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs141486252	chr4:110521547-110521548	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs117834594	chr4:110521650-110521651	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs558198812	chr4:110521659-110521660	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs534812557	chr4:110521711-110521712	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs197215	chr4:110521727-110521728	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs568381521	chr4:110521742-110521743	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs75941222	chr4:110521835-110521836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192581508	chr4:110521840-110521841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185415025	chr4:110521864-110521865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569981643	chr4:110521877-110521878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542501105	chr4:110521947-110521948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536844807	chr4:110521956-110521957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528192589	chr4:110521982-110521983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369244211	chr4:110521983-110521984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372828618	chr4:110522003-110522004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs197214	chr4:110522012-110522013	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs575131795	chr4:110522022-110522023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373054262	chr4:110522053-110522054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188981822	chr4:110522064-110522065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550053528	chr4:110522087-110522088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570300527	chr4:110522232-110522233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192422231	chr4:110522233-110522234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549345399	chr4:110522244-110522245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200529826	chr4:110522258-110522259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574537804	chr4:110522265-110522266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs397994932	chr4:110522272-110522273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs202195710	chr4:110522273-110522274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147287603	chr4:110522278-110522279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535144037	chr4:110522307-110522308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184447622	chr4:110522355-110522356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571675947	chr4:110522389-110522390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537480399	chr4:110522407-110522408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557215339	chr4:110522421-110522422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114317048	chr4:110522428-110522429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537247076	chr4:110522437-110522438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188589491	chr4:110522463-110522464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141028371	chr4:110522477-110522478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553733568	chr4:110522483-110522484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144900322	chr4:110522498-110522499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564680443	chr4:110522499-110522500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110508800-110523200	Weak transcription	Primary B cells from cord blood	blood
2	chr4:110510600-110522800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:110510800-110524200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr4:110510800-110530800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr4:110511000-110521600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:110511000-110527200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr4:110511400-110524400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:110512400-110530000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:110512800-110524000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr4:110512800-110524200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr4:110519800-110521800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr4:110519800-110521800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr4:110519800-110522000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr4:110519800-110524400	Weak transcription	Thymus	Thymus
15	chr4:110520000-110521800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr4:110520200-110521800	Enhancers	Primary T cells from cord blood	blood
17	chr4:110520200-110521800	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr4:110520400-110522600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr4:110520600-110521800	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr4:110521000-110521600	Weak transcription	Fetal Thymus	thymus
21	chr4:110521000-110521800	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr4:110521200-110521800	ZNF genes & repeats	Dnd41	blood
23	chr4:110521200-110524200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr4:110521600-110521800	ZNF genes & repeats	Fetal Thymus	thymus
25	chr4:110521800-110522200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr4:110521800-110522600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr4:110521800-110522600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr4:110521800-110524000	Weak transcription	Dnd41	blood
29	chr4:110521800-110524200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr4:110521800-110525600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr4:110521800-110526600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr4:110521800-110529400	Weak transcription	Primary T cells from cord blood	blood
33	chr4:110522000-110522400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr4:110522000-110524000	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr4:110522200-110523200	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr4:110522400-110523600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr4:110522600-110523000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr4:110522600-110523200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr4:110522600-110523200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr4:110522600-110523600	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr4:110522600-110531000	Weak transcription	Ovary	ovary
42	chr4:110522800-110524800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:110523000-110524200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr4:110523200-110524200	ZNF genes & repeats	Primary B cells from cord blood	blood
45	chr4:110523200-110526800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr4:110523200-110529400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr4:110523600-110526400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr4:110523600-110530000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr4:110524000-110524600	Strong transcription	Primary B cells from peripheral blood	blood
50	chr4:110524000-110524600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain

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