Variant report

Variant	nsv10627
Chromosome Location	chr4:187879192-187904861
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	chr4:187759553..187761639-chr4:187893343..187896166,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAT1-1	chr4:187900644-187900886	XLOC_004215

Extended variants
information (count: 454 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:454 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184529861	chr4:187879192-187879193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs36135290	chr4:187879201-187879202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377533144	chr4:187879217-187879218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560348701	chr4:187879243-187879244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189626411	chr4:187879258-187879259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs386683596	chr4:187879265-187879266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369691793	chr4:187879288-187879289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369976335	chr4:187879298-187879299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs66533756	chr4:187879319-187879320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542602989	chr4:187879386-187879387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372032971	chr4:187879390-187879391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192479375	chr4:187879492-187879493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374430049	chr4:187879512-187879513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147173364	chr4:187879539-187879540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375985935	chr4:187879576-187879577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183895808	chr4:187879577-187879578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114172138	chr4:187879613-187879614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77407136	chr4:187879635-187879636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs71607928	chr4:187879650-187879651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542810582	chr4:187879651-187879652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144033136	chr4:187879658-187879659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528349879	chr4:187879666-187879667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370813416	chr4:187879679-187879680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113586239	chr4:187879684-187879685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375249979	chr4:187879704-187879705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531670754	chr4:187879718-187879719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541460402	chr4:187879738-187879739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181335650	chr4:187879765-187879766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7695973	chr4:187879767-187879768	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs544772611	chr4:187879773-187879774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565249470	chr4:187879781-187879782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114111250	chr4:187879800-187879801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11424766	chr4:187879836-187879837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11432720	chr4:187879850-187879851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147298939	chr4:187879863-187879864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549985166	chr4:187879887-187879888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114791415	chr4:187879901-187879902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530469904	chr4:187879906-187879907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139836280	chr4:187879914-187879915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149854734	chr4:187879931-187879932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11424765	chr4:187879957-187879958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78480159	chr4:187879958-187879959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563410356	chr4:187879962-187879963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184721363	chr4:187879997-187879998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549124029	chr4:187880022-187880023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7696677	chr4:187880098-187880099	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs528053482	chr4:187880109-187880110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs58185372	chr4:187880116-187880117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189554586	chr4:187880117-187880118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566080209	chr4:187880128-187880129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Oral cancer	17325662	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187868400-187880800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:187875400-187879200	Weak transcription	Osteobl	bone
3	chr4:187875600-187879200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:187876400-187879400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr4:187878000-187879800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:187878000-187879800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:187878600-187880200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:187879000-187880200	Enhancers	HMEC	breast
9	chr4:187879200-187879800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:187879200-187879800	Enhancers	Osteobl	bone
11	chr4:187879200-187880200	Enhancers	NHEK	skin
12	chr4:187879400-187879800	Enhancers	NH-A	brain
13	chr4:187879400-187880000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:187879400-187880400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr4:187880000-187880400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:187880200-187880400	Bivalent Enhancer	NHEK	skin
17	chr4:187898400-187899400	Enhancers	Fetal Lung	lung
18	chr4:187898800-187899000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:187898800-187900000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:187899000-187899200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:187899000-187899600	Active TSS	NHLF	lung
22	chr4:187899000-187899800	Enhancers	Osteobl	bone
23	chr4:187899200-187899400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:187899400-187899600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:187899400-187901000	Weak transcription	Fetal Lung	lung
26	chr4:187899600-187899800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:187899600-187899800	Enhancers	NHLF	lung
28	chr4:187899800-187901200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:187899800-187901200	Weak transcription	Osteobl	bone
30	chr4:187899800-187901400	Weak transcription	NHLF	lung
31	chr4:187900000-187900400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:187900400-187901200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:187900800-187901000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:187900800-187901000	Enhancers	Aorta	Aorta
35	chr4:187901000-187901400	Enhancers	Fetal Lung	lung
36	chr4:187901200-187901400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:187901200-187901400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:187901200-187901400	Active TSS	Osteobl	bone
39	chr4:187901200-187901600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr4:187901200-187902000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:187901200-187902200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:187901200-187902600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr4:187901200-187902600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr4:187901400-187901600	Flanking Active TSS	Osteobl	bone
45	chr4:187901400-187901800	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr4:187901400-187901800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:187901400-187901800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:187901400-187901800	Active TSS	Fetal Kidney	kidney
49	chr4:187901400-187901800	Flanking Active TSS	Fetal Lung	lung
50	chr4:187901400-187901800	Enhancers	HSMMtube	muscle

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