Variant report

Variant	nsv595385
Chromosome Location	chr4:127383473-127451806
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:127397720..127399980-chr4:127400874..127404758,3	K562	blood:
2	chr4:127351511..127353406-chr4:127384424..127386010,2	K562	blood:
3	chr4:127405680..127406372-chr4:127525098..127525686,2	MCF-7	breast:
4	chr4:127396571..127400673-chr4:127401493..127405993,4	K562	blood:
5	chr4:127392617..127394785-chr4:127410243..127411886,2	K562	blood:
6	chr4:127374746..127378730-chr4:127382630..127385054,3	K562	blood:
7	chr4:127397720..127399980-chr4:127400874..127404758,3	K562	blood:
8	chr4:127429358..127432829-chr4:127433521..127436584,3	K562	blood:
9	chr4:127404431..127407889-chr4:127409968..127412759,3	K562	blood:
10	chr4:127404431..127406703-chr4:127409978..127411924,2	K562	blood:
11	chr4:127404431..127407889-chr4:127409968..127412759,3	K562	blood:
12	chr4:127429358..127432829-chr4:127433521..127436584,3	K562	blood:
13	chr4:127392617..127394785-chr4:127410243..127411886,2	K562	blood:
14	chr4:127434198..127436388-chr4:127438548..127441713,3	K562	blood:
15	chr4:127393776..127396418-chr4:127400687..127402446,2	K562	blood:
16	chr4:127404431..127406703-chr4:127409978..127411924,2	K562	blood:
17	chr4:127450342..127452701-chr4:127460541..127463535,2	K562	blood:
18	chr4:127393776..127396418-chr4:127400687..127402446,2	K562	blood:
19	chr4:127434198..127436388-chr4:127438548..127441713,3	K562	blood:
20	chr4:127396571..127400673-chr4:127401493..127405993,4	K562	blood:
21	chr4:127380458..127382977-chr4:127386383..127388629,2	MCF-7	breast:

No data

Extended variants
information (count: 1755 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1755 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12651126	chr4:127383473-127383474	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574031901	chr4:127383477-127383478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1396527	chr4:127383478-127383479	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs76177480	chr4:127383557-127383558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192455336	chr4:127383560-127383561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532075572	chr4:127383574-127383575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184431634	chr4:127383610-127383611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372506815	chr4:127383619-127383620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375792761	chr4:127383654-127383655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531243978	chr4:127383671-127383672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115607067	chr4:127383689-127383690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568175749	chr4:127383742-127383743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75622158	chr4:127383759-127383760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565290402	chr4:127383769-127383770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188963450	chr4:127383805-127383806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192508466	chr4:127383811-127383812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74901313	chr4:127383859-127383860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558529450	chr4:127383870-127383871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570360488	chr4:127383888-127383889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576103018	chr4:127383959-127383960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112899067	chr4:127383961-127383962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146017073	chr4:127383973-127383974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555464027	chr4:127383985-127383986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138611036	chr4:127383999-127384000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75581558	chr4:127384000-127384001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71593504	chr4:127384142-127384143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114359289	chr4:127384150-127384151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184557019	chr4:127384186-127384187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564084110	chr4:127384195-127384196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs386679334	chr4:127384198-127384199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61352395	chr4:127384200-127384201	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs561545305	chr4:127384222-127384223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373903801	chr4:127384325-127384326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs57761577	chr4:127384343-127384344	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs34536614	chr4:127384362-127384363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149296286	chr4:127384363-127384364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201215596	chr4:127384377-127384378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12506128	chr4:127384403-127384404	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs12510218	chr4:127384406-127384407	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs370305809	chr4:127384494-127384495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374602528	chr4:127384501-127384502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535824018	chr4:127384505-127384506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561122671	chr4:127384523-127384524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551984781	chr4:127384545-127384546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138782463	chr4:127384559-127384560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72690217	chr4:127384565-127384566	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs537758474	chr4:127384569-127384570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189002172	chr4:127384590-127384591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181448972	chr4:127384660-127384661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534974659	chr4:127384725-127384726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127346200-127388400	Weak transcription	K562	blood
2	chr4:127380400-127389400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:127383400-127383800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:127388400-127389800	Strong transcription	K562	blood
5	chr4:127389400-127391400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:127389800-127390400	Weak transcription	K562	blood
7	chr4:127390200-127390600	Enhancers	NHLF	lung
8	chr4:127390200-127390800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:127390400-127391000	Enhancers	K562	blood
10	chr4:127391000-127392000	Genic enhancers	K562	blood
11	chr4:127391400-127391800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:127391800-127392400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:127392000-127392200	Enhancers	K562	blood
14	chr4:127392000-127392600	Enhancers	HUVEC	blood vessel
15	chr4:127392200-127413200	Weak transcription	K562	blood
16	chr4:127398400-127398600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:127398400-127398600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:127398600-127400400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:127400000-127400800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:127411000-127411400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:127413200-127414200	Strong transcription	K562	blood
22	chr4:127414200-127415800	Weak transcription	K562	blood
23	chr4:127414400-127415000	Enhancers	Colon Smooth Muscle	Colon
24	chr4:127415800-127416400	Enhancers	K562	blood
25	chr4:127416400-127416800	Flanking Active TSS	K562	blood
26	chr4:127416800-127417000	Active TSS	K562	blood
27	chr4:127417000-127419800	Weak transcription	K562	blood
28	chr4:127431800-127438000	Weak transcription	K562	blood
29	chr4:127434400-127435000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:127447200-127448400	ZNF genes & repeats	K562	blood
31	chr4:127451200-127451400	ZNF genes & repeats	K562	blood
32	chr4:127451400-127454400	Weak transcription	K562	blood

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