Variant report

Variant	nsv879909
Chromosome Location	chr4:127646765-127792639
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:123)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:123 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr4:127677637..127680526-chr4:127689411..127691424,3	K562	blood:
2	chr4:127695737..127697601-chr4:127770299..127773125,2	K562	blood:
3	chr4:127684073..127686472-chr4:127688061..127689744,2	K562	blood:
4	chr4:127672554..127674292-chr4:127695286..127696943,2	K562	blood:
5	chr4:127715948..127718390-chr4:127719947..127721620,2	K562	blood:
6	chr4:127724830..127727787-chr4:127727865..127729451,2	K562	blood:
7	chr4:127716621..127718255-chr4:127771445..127774248,2	K562	blood:
8	chr4:127648038..127650424-chr4:127651439..127654033,3	K562	blood:
9	chr4:127711334..127714117-chr4:127715657..127719809,4	K562	blood:
10	chr4:127655557..127658334-chr4:127703330..127706969,3	K562	blood:
11	chr4:127694329..127698868-chr4:127713362..127717264,4	K562	blood:
12	chr4:127654312..127657271-chr4:127664785..127667908,3	K562	blood:
13	chr4:127712561..127715438-chr4:127723016..127726420,3	K562	blood:
14	chr4:127656785..127658564-chr4:127670907..127672656,2	K562	blood:
15	chr4:127731463..127733823-chr4:127736034..127738057,2	K562	blood:
16	chr4:127699055..127701009-chr4:127763669..127766462,2	K562	blood:
17	chr4:127699741..127703647-chr4:127875173..127879234,5	K562	blood:
18	chr4:127656785..127658564-chr4:127670907..127672656,2	K562	blood:
19	chr4:127764319..127766522-chr4:127767801..127769304,2	K562	blood:
20	chr4:127661681..127663731-chr4:127834793..127837662,2	K562	blood:
21	chr4:127765926..127767639-chr4:127769595..127772371,2	K562	blood:
22	chr4:127743580..127745854-chr4:127762876..127765537,2	K562	blood:
23	chr4:127648038..127650424-chr4:127651439..127654033,3	K562	blood:
24	chr4:127652170..127654874-chr4:127875964..127880032,4	K562	blood:
25	chr4:127708913..127710859-chr4:127711115..127713676,2	K562	blood:
26	chr4:127645596..127648097-chr4:127648358..127650119,2	K562	blood:
27	chr4:127645103..127647916-chr4:127657804..127660806,3	K562	blood:
28	chr4:127765926..127767639-chr4:127769595..127772371,2	K562	blood:
29	chr4:127677637..127680526-chr4:127689411..127691424,3	K562	blood:
30	chr4:127639635..127641216-chr4:127646966..127649464,2	K562	blood:
31	chr4:127646443..127648760-chr4:127651080..127655752,5	K562	blood:
32	chr4:127699715..127702896-chr4:127704901..127707141,5	K562	blood:
33	chr4:127771841..127773556-chr4:127876449..127879979,3	K562	blood:
34	chr4:127716621..127718255-chr4:127771445..127774248,2	K562	blood:
35	chr1:194308962..194311330-chr4:127715408..127718280,2	MCF-7	breast:
36	chr4:127649446..127654981-chr4:127658045..127662615,6	K562	blood:
37	chr4:127761821..127763813-chr4:127877198..127878709,2	K562	blood:
38	chr4:127699055..127701009-chr4:127763669..127766462,2	K562	blood:
39	chr4:127653930..127656479-chr4:127687621..127689645,2	K562	blood:
40	chr4:127695739..127697770-chr4:127877137..127879165,2	K562	blood:
41	chr4:127672554..127674292-chr4:127695286..127696943,2	K562	blood:
42	chr4:127694991..127697764-chr4:127874695..127878637,6	K562	blood:
43	chr4:127694329..127698868-chr4:127713362..127717264,4	K562	blood:
44	chr4:127761402..127763975-chr4:127765998..127768528,2	K562	blood:
45	chr4:127655557..127658334-chr4:127703330..127706969,3	K562	blood:
46	chr4:127606260..127608427-chr4:127694328..127697298,2	K562	blood:
47	chr4:127654777..127657151-chr4:127876043..127879204,4	K562	blood:
48	chr4:127654180..127661020-chr4:127693803..127700410,12	K562	blood:
49	chr4:127748775..127750518-chr4:127761705..127763347,2	K562	blood:
50	chr4:127731507..127733827-chr4:127738562..127741245,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163636	chromatin interactions

Extended variants
information (count: 5635 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:5635 , 50 per page) page: 1 2 3 4 5 6 7 ... 113

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2969612	chr4:127646765-127646766	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190674434	chr4:127646766-127646767	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs180973117	chr4:127646827-127646828	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528986859	chr4:127646860-127646861	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571917477	chr4:127646881-127646882	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538916636	chr4:127646918-127646919	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs80022919	chr4:127646921-127646922	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547051391	chr4:127646944-127646945	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555926957	chr4:127646951-127646952	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531054382	chr4:127646953-127646954	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150798719	chr4:127646966-127646967	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551639094	chr4:127646992-127646993	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185308071	chr4:127647033-127647034	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139185089	chr4:127647040-127647041	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571514881	chr4:127647043-127647044	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10010288	chr4:127647105-127647106	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs190129013	chr4:127647120-127647121	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535139119	chr4:127647218-127647219	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79834733	chr4:127647255-127647256	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577952921	chr4:127647361-127647362	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370360348	chr4:127647388-127647389	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571089176	chr4:127647389-127647390	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533643678	chr4:127647403-127647404	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369779680	chr4:127647405-127647406	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558080500	chr4:127647491-127647492	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149934413	chr4:127647572-127647573	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543596958	chr4:127647610-127647611	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573622328	chr4:127647620-127647621	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77996582	chr4:127647628-127647629	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182707347	chr4:127647652-127647653	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532940463	chr4:127647655-127647656	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374254226	chr4:127647672-127647673	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74865292	chr4:127647673-127647674	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563595395	chr4:127647674-127647675	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566464832	chr4:127647681-127647682	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201021276	chr4:127647683-127647684	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76391063	chr4:127647687-127647688	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35757793	chr4:127647690-127647691	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77745184	chr4:127647740-127647741	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1167192	chr4:127647784-127647785	Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs76413388	chr4:127647801-127647802	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs6834307	chr4:127647807-127647808	Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs547048100	chr4:127647813-127647814	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187342658	chr4:127647855-127647856	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191984295	chr4:127647922-127647923	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183720050	chr4:127648068-127648069	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147610127	chr4:127648090-127648091	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189106457	chr4:127648104-127648105	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555410855	chr4:127648113-127648114	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192160998	chr4:127648122-127648123	Enhancers Genic enhancers	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	18451855	CNVD

Chromatin state (count:386 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127637200-127647200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr4:127639600-127647400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr4:127646000-127649200	Genic enhancers	K562	blood
4	chr4:127646600-127647000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:127646800-127648200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr4:127647200-127648000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr4:127647200-127649000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:127647400-127648200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:127648000-127649200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:127648200-127648800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:127648400-127649000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:127648400-127649200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:127648400-127649200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr4:127648600-127649000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:127648600-127649200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:127648800-127649000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr4:127648800-127649200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:127648800-127649200	Enhancers	Hela-S3	cervix
19	chr4:127648800-127649200	Enhancers	HMEC	breast
20	chr4:127648800-127649200	Enhancers	NHDF-Ad	bronchial
21	chr4:127649200-127652200	Weak transcription	K562	blood
22	chr4:127649200-127653800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:127649200-127654600	Weak transcription	NHDF-Ad	bronchial
24	chr4:127652200-127652800	Transcr. at gene 5' and 3'	K562	blood
25	chr4:127652800-127658000	Active TSS	K562	blood
26	chr4:127653800-127654800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:127654600-127654800	Enhancers	NHDF-Ad	bronchial
28	chr4:127654800-127660000	Weak transcription	NHDF-Ad	bronchial
29	chr4:127658000-127658200	Flanking Active TSS	K562	blood
30	chr4:127658200-127658400	Active TSS	K562	blood
31	chr4:127658400-127660400	Flanking Active TSS	K562	blood
32	chr4:127658600-127658800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:127658600-127659400	Enhancers	Fetal Lung	lung
34	chr4:127658800-127659800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:127659400-127660400	Weak transcription	Fetal Lung	lung
36	chr4:127659600-127660800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:127659800-127660400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:127660000-127660800	Enhancers	NHDF-Ad	bronchial
39	chr4:127660400-127660600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:127660400-127660600	Enhancers	Fetal Lung	lung
41	chr4:127660400-127661600	Enhancers	K562	blood
42	chr4:127660600-127666800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:127661600-127662200	Flanking Active TSS	K562	blood
44	chr4:127662200-127664400	Enhancers	K562	blood
45	chr4:127663200-127663800	Enhancers	Aorta	Aorta
46	chr4:127664400-127665000	Flanking Active TSS	K562	blood
47	chr4:127664600-127665000	Enhancers	Fetal Heart	heart
48	chr4:127665000-127665400	Enhancers	K562	blood
49	chr4:127665400-127671800	Weak transcription	K562	blood
50	chr4:127666800-127667400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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