Variant report

Variant	esv2518482
Chromosome Location	chr4:110497901-110499556
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	chr4:110495138..110497220-chr4:110499301..110501680,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CASP6-4	chr4:110497648-110498165	ucscGeneNc_uc003hzi_1

Extended variants
information (count: 64 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180838322	chr4:110497948-110497949	Enhancers Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs186521752	chr4:110497964-110497965	Enhancers Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs150687302	chr4:110498004-110498005	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs564313726	chr4:110498018-110498019	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs577833944	chr4:110498026-110498027	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs371880960	chr4:110498039-110498040	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs113641730	chr4:110498069-110498070	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs197204	chr4:110498074-110498075	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs145928075	chr4:110498126-110498127	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs549343670	chr4:110498127-110498128	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs191330494	chr4:110498165-110498166	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs528359467	chr4:110498201-110498202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575411333	chr4:110498209-110498210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139868491	chr4:110498212-110498213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571424342	chr4:110498215-110498216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545787906	chr4:110498260-110498261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535808605	chr4:110498265-110498266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550839383	chr4:110498305-110498306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143242343	chr4:110498326-110498327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536000306	chr4:110498378-110498379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552914215	chr4:110498385-110498386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11939571	chr4:110498524-110498525	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs572911039	chr4:110498550-110498551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs197203	chr4:110498602-110498603	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs200575022	chr4:110498603-110498604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374023066	chr4:110498713-110498714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377297476	chr4:110498724-110498725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147525925	chr4:110498754-110498755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13133693	chr4:110498755-110498756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113482941	chr4:110498798-110498799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34559658	chr4:110498810-110498811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377652838	chr4:110498811-110498812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543607687	chr4:110498846-110498847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563580893	chr4:110498855-110498856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574058156	chr4:110498867-110498868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542775476	chr4:110498871-110498872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559663575	chr4:110498872-110498873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113856271	chr4:110498876-110498877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530223080	chr4:110498877-110498878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551653036	chr4:110498891-110498892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201679108	chr4:110498892-110498893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565173001	chr4:110498921-110498922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530864885	chr4:110498922-110498923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139289017	chr4:110498930-110498931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs71603036	chr4:110498952-110498953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550782722	chr4:110499023-110499024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183573553	chr4:110499055-110499056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536318719	chr4:110499057-110499058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546395355	chr4:110499061-110499062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566424440	chr4:110499063-110499064	Weak transcription Enhancers	n/a	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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110483000-110498200	Weak transcription	HMEC	breast
2	chr4:110484200-110509400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:110484400-110509400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:110484400-110509400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:110484400-110509400	Weak transcription	Thymus	Thymus
6	chr4:110490000-110502600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr4:110494600-110498000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr4:110494800-110499600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr4:110495000-110498200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr4:110495400-110498600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:110495800-110498000	Enhancers	K562	blood
12	chr4:110496200-110498400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:110496200-110500600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr4:110496400-110498400	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr4:110496400-110499600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr4:110496400-110500000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr4:110496400-110500400	Weak transcription	Fetal Thymus	thymus
18	chr4:110496400-110509000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr4:110496400-110510200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr4:110496600-110499600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr4:110496600-110503800	Weak transcription	Primary B cells from peripheral blood	blood
22	chr4:110496800-110498400	Enhancers	Placenta	Placenta
23	chr4:110497200-110498000	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr4:110497200-110498000	Genic enhancers	Primary T cells from cord blood	blood
25	chr4:110497200-110498000	Enhancers	Fetal Brain Female	brain
26	chr4:110497200-110499600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr4:110497200-110500000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr4:110497400-110498200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr4:110497400-110499800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr4:110497400-110504000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr4:110497600-110498000	Enhancers	Small Intestine	intestine
32	chr4:110497600-110498600	Enhancers	HUVEC	blood vessel
33	chr4:110497800-110498000	Enhancers	Fetal Brain Male	brain
34	chr4:110497800-110498200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:110497800-110501000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr4:110498000-110499600	Weak transcription	Primary T cells from cord blood	blood
37	chr4:110498000-110504400	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr4:110498200-110499200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr4:110498400-110499600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr4:110498400-110499800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:110498600-110499800	Weak transcription	HUVEC	blood vessel
42	chr4:110499200-110500000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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