Variant report

Variant	nsv830054
Chromosome Location	chr4:127155575-127331549
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:36)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:127320454..127322715-chr4:127324550..127326366,2	K562	blood:
2	chr4:127293804..127295496-chr4:127298025..127299931,2	K562	blood:
3	chr4:127227359..127229035-chr4:127236602..127239194,2	K562	blood:
4	chr4:127269852..127272002-chr4:127274489..127277007,2	K562	blood:
5	chr4:127274988..127276546-chr4:127285609..127288162,2	K562	blood:
6	chr4:127227359..127229035-chr4:127236602..127239194,2	K562	blood:
7	chr4:127165537..127167079-chr4:127168963..127171703,2	K562	blood:
8	chr4:127238257..127240146-chr4:127242760..127245172,2	MCF-7	breast:
9	chr4:127293804..127295496-chr4:127298025..127299931,2	K562	blood:
10	chr4:127179627..127181975-chr4:127186139..127188672,2	K562	blood:
11	chr4:127239833..127242668-chr4:127262870..127265140,2	K562	blood:
12	chr4:127258590..127260569-chr4:127267315..127269374,2	MCF-7	breast:
13	chr4:127280595..127282139-chr4:127282524..127284130,2	MCF-7	breast:
14	chr4:127249556..127251494-chr4:127253103..127255575,2	MCF-7	breast:
15	chr4:127307159..127309377-chr4:127313047..127314682,2	K562	blood:
16	chr4:127269852..127272002-chr4:127274489..127277007,2	K562	blood:
17	chr4:127239442..127241364-chr4:127243193..127245762,2	K562	blood:
18	chr4:127238257..127240146-chr4:127242760..127245172,2	MCF-7	breast:
19	chr4:127239442..127241364-chr4:127243193..127245762,2	K562	blood:
20	chr4:127239833..127242668-chr4:127262870..127265140,2	K562	blood:
21	chr4:127165537..127167079-chr4:127168963..127171703,2	K562	blood:
22	chr4:127152710..127154542-chr4:127158111..127160979,2	K562	blood:
23	chr4:127179627..127181975-chr4:127186139..127188672,2	K562	blood:
24	chr4:127258590..127260569-chr4:127267315..127269374,2	MCF-7	breast:
25	chr4:127280595..127282139-chr4:127282524..127284130,2	MCF-7	breast:
26	chr4:127179343..127185209-chr4:127185874..127190055,5	K562	blood:
27	chr4:127274988..127276546-chr4:127285609..127288162,2	K562	blood:
28	chr4:127229764..127232069-chr4:127233429..127235724,2	K562	blood:
29	chr4:127249556..127251494-chr4:127253103..127255575,2	MCF-7	breast:
30	chr4:127262823..127265034-chr4:127266608..127268127,2	K562	blood:
31	chr4:127307159..127309377-chr4:127313047..127314682,2	K562	blood:
32	chr4:127262823..127265034-chr4:127266608..127268127,2	K562	blood:
33	chr4:127229764..127232069-chr4:127233429..127235724,2	K562	blood:
34	chr4:127324828..127327322-chr4:127336942..127339444,2	K562	blood:
35	chr4:127179343..127185209-chr4:127185874..127190055,5	K562	blood:
36	chr4:127320454..127322715-chr4:127324550..127326366,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAT4-5	chr4:127211308-127211418	l_2726_chr4:127211307-127212912_testes
2	lnc-ANKRD50-5	chr4:127163976-127164167	XLOC_004065
3	lnc-ANKRD50-5	chr4:127163975-127164167	NONHSAT098224
4	lnc-ANKRD50-5	chr4:127159305-127159383	NONHSAT098224
5	lnc-ANKRD50-5	chr4:127159306-127159383	XLOC_004065
6	lnc-FAT4-5	chr4:127212416-127212912	l_2726_chr4:127211307-127212912_testes

No data

Extended variants
information (count: 2637 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2637 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188017751	chr4:127159044-127159045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148439925	chr4:127159102-127159103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548248078	chr4:127159103-127159104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191407631	chr4:127159114-127159115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs961796	chr4:127159155-127159156	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs12506424	chr4:127159243-127159244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537123109	chr4:127159276-127159277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551032449	chr4:127159303-127159304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113431870	chr4:127159375-127159376	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs575336851	chr4:127159411-127159412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141675606	chr4:127159499-127159500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575358063	chr4:127159511-127159512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561144318	chr4:127159598-127159599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572897230	chr4:127159635-127159636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540202459	chr4:127159748-127159749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4834101	chr4:127159751-127159752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs145948929	chr4:127159752-127159753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183599397	chr4:127159761-127159762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564554208	chr4:127159802-127159803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs17010831	chr4:127159827-127159828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs139825621	chr4:127159854-127159855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376307881	chr4:127159867-127159868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566786996	chr4:127159916-127159917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533939636	chr4:127160008-127160009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143130872	chr4:127160022-127160023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552104131	chr4:127160046-127160047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570752008	chr4:127160072-127160073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538376703	chr4:127160076-127160077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72928152	chr4:127160109-127160110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs187964360	chr4:127160209-127160210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13113091	chr4:127160216-127160217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536422629	chr4:127160247-127160248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77684670	chr4:127160252-127160253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76630000	chr4:127160283-127160284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192435922	chr4:127160287-127160288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113811021	chr4:127160344-127160345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111429584	chr4:127160402-127160403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367602471	chr4:127160451-127160452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75547590	chr4:127160453-127160454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs397878458	chr4:127160457-127160458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564941702	chr4:127160467-127160468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185410117	chr4:127160481-127160482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146878668	chr4:127160522-127160523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7692150	chr4:127160538-127160539	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs564158170	chr4:127160557-127160558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139407902	chr4:127160564-127160565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117242374	chr4:127160569-127160570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189934709	chr4:127160619-127160620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192993887	chr4:127160621-127160622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184750017	chr4:127160622-127160623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
Breast cancer	17603634	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127159000-127159400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:127159000-127159600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr4:127159000-127159600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr4:127159200-127159600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr4:127159400-127166000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:127162800-127163800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:127163000-127163800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:127163000-127164600	Enhancers	Fetal Lung	lung
9	chr4:127163800-127164200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:127163800-127164200	Enhancers	Fetal Heart	heart
11	chr4:127163800-127164400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:127163800-127164400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:127163800-127164400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:127163800-127164400	Enhancers	Fetal Brain Male	brain
15	chr4:127163800-127164600	Enhancers	Adipose Nuclei	Adipose
16	chr4:127163800-127164800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:127164000-127164400	Enhancers	Right Atrium	heart
18	chr4:127164000-127164400	Enhancers	Small Intestine	intestine
19	chr4:127164000-127164600	Enhancers	Spleen	Spleen
20	chr4:127164200-127164600	Enhancers	Gastric	stomach
21	chr4:127164400-127164600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:127164400-127164600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:127164600-127168600	Weak transcription	Adipose Nuclei	Adipose
24	chr4:127166000-127166200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr4:127168400-127168800	Active TSS	K562	blood
26	chr4:127168600-127168800	Enhancers	Hela-S3	cervix
27	chr4:127168600-127169000	Active TSS	Adipose Nuclei	Adipose
28	chr4:127177600-127178000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:127177600-127178000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr4:127177600-127178600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:127178000-127183400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:127178000-127185800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr4:127178600-127183400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:127183400-127183800	Enhancers	Fetal Lung	lung
35	chr4:127183400-127184000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:127183400-127184200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:127183400-127184200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:127183600-127183800	Enhancers	Fetal Brain Male	brain
39	chr4:127183800-127184000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:127183800-127188800	Weak transcription	Fetal Lung	lung
41	chr4:127184000-127185600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:127184200-127185800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:127184200-127186200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:127184800-127186000	Weak transcription	Fetal Brain Male	brain
45	chr4:127185600-127185800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:127185800-127186200	Enhancers	NH-A	brain
47	chr4:127185800-127186600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:127185800-127186600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:127185800-127187000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:127185800-127187400	Enhancers	NHDF-Ad	bronchial

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