Variant report

Variant	nsv1016687
Chromosome Location	chr4:188205839-188230704
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:2)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:188218935..188220617-chr4:188223273..188225640,2	K562	blood:
2	chr4:188218935..188220617-chr4:188223273..188225640,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAT1-3	chr4:188225237-188225621	XLOC_004217
2	lnc-FAT1-3	chr4:188225792-188226855	XLOC_004217
3	lnc-FAT1-3	chr4:188230336-188230836	XLOC_004217
4	lnc-FAT1-3	chr4:188228260-188228423	XLOC_004217
5	lnc-ZFP42-13	chr4:188228509-188228694	NONHSAT099691

No data

Extended variants
information (count: 1072 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1072 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10005568	chr4:188205839-188205840	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs143665054	chr4:188205859-188205860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114744791	chr4:188205871-188205872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528474888	chr4:188205935-188205936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374424468	chr4:188205939-188205940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115394527	chr4:188205962-188205963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555226984	chr4:188205971-188205972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs578009403	chr4:188205992-188205993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537166373	chr4:188206029-188206030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557297157	chr4:188206037-188206038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181166479	chr4:188206078-188206079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34798364	chr4:188206112-188206113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs397701677	chr4:188206125-188206126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372996208	chr4:188206152-188206153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541200403	chr4:188206159-188206160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199514505	chr4:188206242-188206243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573932249	chr4:188206300-188206301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559699984	chr4:188206305-188206306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560080299	chr4:188206307-188206308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146821644	chr4:188206327-188206328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186060932	chr4:188206345-188206346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565489536	chr4:188206349-188206350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530591947	chr4:188206376-188206377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533301428	chr4:188206401-188206402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190422696	chr4:188206493-188206494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182267877	chr4:188206583-188206584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113670200	chr4:188206624-188206625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140470978	chr4:188206631-188206632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112856519	chr4:188206652-188206653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546226812	chr4:188206727-188206728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562152827	chr4:188206763-188206764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566424924	chr4:188206810-188206811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187249004	chr4:188206818-188206819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529413182	chr4:188206892-188206893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs80290919	chr4:188206913-188206914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149109412	chr4:188206939-188206940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115321814	chr4:188206941-188206942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538075239	chr4:188206943-188206944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368727285	chr4:188206957-188206958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540037382	chr4:188206961-188206962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190786779	chr4:188206970-188206971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182636714	chr4:188207049-188207050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186747195	chr4:188207054-188207055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573538303	chr4:188207057-188207058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77788213	chr4:188207064-188207065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565448022	chr4:188207074-188207075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575727192	chr4:188207106-188207107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530926502	chr4:188207152-188207153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544825397	chr4:188207169-188207170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534301424	chr4:188207172-188207173	Weak transcription	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Autism	20808228	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:188198600-188207400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:188203400-188207600	Weak transcription	NHLF	lung
3	chr4:188204600-188207600	Weak transcription	Fetal Lung	lung
4	chr4:188204800-188207000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:188205000-188206200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:188205000-188210200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:188205000-188210200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr4:188205000-188210400	Weak transcription	Osteobl	bone
9	chr4:188206400-188206600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr4:188207400-188207800	Bivalent Enhancer	Fetal Intestine Large	intestine
11	chr4:188207400-188208600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:188207600-188208000	Enhancers	Placenta Amnion	Placenta Amnion
13	chr4:188207600-188208200	Enhancers	NHLF	lung
14	chr4:188207600-188208400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:188207600-188208400	Enhancers	Fetal Kidney	kidney
16	chr4:188207600-188208400	Enhancers	Fetal Lung	lung
17	chr4:188207800-188208000	Enhancers	Ovary	ovary
18	chr4:188207800-188209600	Weak transcription	Fetal Intestine Large	intestine
19	chr4:188208200-188210400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:188208600-188210200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:188209600-188211000	Enhancers	Fetal Intestine Large	intestine
22	chr4:188210200-188210400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr4:188210200-188210600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:188210200-188211000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:188210200-188211000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:188210200-188211000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:188210400-188210600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr4:188210400-188210600	Enhancers	Osteobl	bone
29	chr4:188210400-188210800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:188210400-188211000	Enhancers	NHEK	skin
31	chr4:188210600-188210800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr4:188210600-188212200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:188210800-188211000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr4:188210800-188216200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:188211000-188211600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr4:188211000-188215400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:188211000-188215600	Weak transcription	NHEK	skin
38	chr4:188211600-188216000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr4:188212200-188212600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:188212600-188217200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr4:188215200-188216400	Enhancers	Fetal Lung	lung
42	chr4:188215400-188215600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:188215400-188215600	Enhancers	Fetal Stomach	stomach
44	chr4:188215400-188216600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:188215600-188216200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr4:188215600-188216600	Enhancers	NHEK	skin
47	chr4:188216000-188216400	Enhancers	Muscle Satellite Cultured Cells	--
48	chr4:188216200-188216400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:188216200-188216400	Enhancers	Fetal Stomach	stomach
50	chr4:188216200-188216600	Enhancers	Rectal Mucosa Donor 31	rectum

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