Variant report

Variant	esv3337977
Chromosome Location	chr4:187904852-187927155
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	chr4:187910556..187913594-chr4:187916872..187920065,3	K562	blood:
2	chr4:187910556..187913594-chr4:187916872..187920065,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAT1-1	chr4:187917410-187917592	XLOC_004215

Extended variants
information (count: 864 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:864 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559531998	chr4:187904861-187904862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527766978	chr4:187904901-187904902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190198884	chr4:187904913-187904914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571435323	chr4:187904919-187904920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567984104	chr4:187904974-187904975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150223426	chr4:187904982-187904983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145431526	chr4:187905016-187905017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114549767	chr4:187905021-187905022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71607934	chr4:187905043-187905044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115603521	chr4:187905076-187905077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149217770	chr4:187905098-187905099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78429533	chr4:187905111-187905112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368928965	chr4:187905112-187905113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534815558	chr4:187905116-187905117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373856457	chr4:187905143-187905144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114759482	chr4:187905144-187905145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535393738	chr4:187905162-187905163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183146463	chr4:187905183-187905184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543606660	chr4:187905198-187905199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186873000	chr4:187905202-187905203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35164948	chr4:187905203-187905204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192039299	chr4:187905215-187905216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553913709	chr4:187905216-187905217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113813601	chr4:187905227-187905228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559411607	chr4:187905241-187905242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146879336	chr4:187905273-187905274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545134559	chr4:187905330-187905331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4574464	chr4:187905342-187905343	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs1425962	chr4:187905399-187905400	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs574492915	chr4:187905410-187905411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546982346	chr4:187905412-187905413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571897097	chr4:187905447-187905448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567583116	chr4:187905496-187905497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539385373	chr4:187905512-187905513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4487413	chr4:187905516-187905517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13142305	chr4:187905533-187905534	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs565755998	chr4:187905555-187905556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534661029	chr4:187905568-187905569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187636077	chr4:187905596-187905597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147879327	chr4:187905629-187905630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28712664	chr4:187905630-187905631	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs557257876	chr4:187905648-187905649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569897142	chr4:187905687-187905688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs58751088	chr4:187905688-187905689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574256588	chr4:187905724-187905725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191111269	chr4:187905739-187905740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553662305	chr4:187905744-187905745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs59577673	chr4:187905747-187905748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182196735	chr4:187905754-187905755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187166887	chr4:187905797-187905798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
Oral cancer	21386901	CNVD
Pancreatic cancer	17952125	CNVD
Oral cancer	17325662	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187901800-187905000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:187902600-187905400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:187904000-187906600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:187904000-187909000	Weak transcription	Aorta	Aorta
5	chr4:187904800-187906200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr4:187905000-187906000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:187905400-187906200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:187911800-187942600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:187919800-187920000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:187920800-187921200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:187920800-187921200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:187920800-187921200	Enhancers	NHLF	lung
13	chr4:187920800-187921400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr4:187924000-187925400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr4:187925400-187927000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:187926000-187928200	Enhancers	Fetal Kidney	kidney
17	chr4:187926400-187927800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:187926400-187928200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:187927000-187927400	Enhancers	HMEC	breast
20	chr4:187927000-187927800	Enhancers	Fetal Stomach	stomach
21	chr4:187927000-187928200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr4:187927000-187928200	Enhancers	Fetal Lung	lung
23	chr4:187927000-187928400	Enhancers	NHEK	skin
24	chr4:187927000-187928800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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