Variant report

Variant	nsv980475
Chromosome Location	chr4:125590327-125593712
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:125590810..125593720-chr4:125595173..125598138,3	K562	blood:
2	chr4:125590937..125593112-chr4:125594242..125596673,2	K562	blood:
3	chr4:125588728..125590855-chr4:125598883..125601495,2	K562	blood:
4	chr4:125588303..125590760-chr4:125596941..125599513,2	K562	blood:
5	chr4:125591423..125593951-chr4:125596939..125598532,2	MCF-7	breast:
6	chr4:125582134..125584431-chr4:125593027..125594996,2	K562	blood:
7	chr4:125587788..125590476-chr4:125631233..125632777,2	MCF-7	breast:

Extended variants
information (count: 182 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:182 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368511135	chr4:125590328-125590329	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149234063	chr4:125590348-125590349	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199504785	chr4:125590367-125590368	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199500950	chr4:125590382-125590383	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574799458	chr4:125590383-125590384	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542073632	chr4:125590401-125590402	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560573825	chr4:125590438-125590439	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200657431	chr4:125590441-125590442	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528056780	chr4:125590460-125590461	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1874748	chr4:125590478-125590479	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs181647409	chr4:125590489-125590490	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111651064	chr4:125590492-125590493	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs202030328	chr4:125590493-125590494	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141676247	chr4:125590503-125590504	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569034621	chr4:125590518-125590519	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200614722	chr4:125590574-125590575	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147174885	chr4:125590578-125590579	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530037702	chr4:125590588-125590589	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548469161	chr4:125590602-125590603	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150964092	chr4:125590615-125590616	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559834831	chr4:125590637-125590638	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186680694	chr4:125590662-125590663	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112459806	chr4:125590673-125590674	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113942607	chr4:125590674-125590675	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373345736	chr4:125590676-125590677	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190298082	chr4:125590687-125590688	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570962743	chr4:125590713-125590714	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377461241	chr4:125590727-125590728	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200772529	chr4:125590732-125590733	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369701008	chr4:125590738-125590739	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144429853	chr4:125590745-125590746	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373610764	chr4:125590758-125590759	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147840106	chr4:125590816-125590817	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556340388	chr4:125590827-125590828	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371748432	chr4:125590835-125590836	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139202658	chr4:125590844-125590845	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377605549	chr4:125590862-125590863	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554485267	chr4:125590927-125590928	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572632653	chr4:125590980-125590981	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149969862	chr4:125590985-125590986	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564718304	chr4:125591000-125591001	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs145189367	chr4:125591048-125591049	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs149147559	chr4:125591069-125591070	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs143672935	chr4:125591071-125591072	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs111803915	chr4:125591152-125591153	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs547418955	chr4:125591166-125591167	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs200654829	chr4:125591188-125591189	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs201273871	chr4:125591196-125591197	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs374920985	chr4:125591198-125591199	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs529948055	chr4:125591243-125591244	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Myelodysplastic syndrome	21251322	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Renal cell carcinoma	20952505	CNVD

Chromatin state (count:237 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125554000-125591600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:125554800-125591200	Weak transcription	Fetal Kidney	kidney
3	chr4:125556800-125591200	Weak transcription	Esophagus	oesophagus
4	chr4:125562200-125591400	Weak transcription	NHLF	lung
5	chr4:125569200-125591000	Weak transcription	Gastric	stomach
6	chr4:125570600-125591000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:125571200-125592000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr4:125571400-125591200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:125572800-125591200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:125572800-125591200	Weak transcription	Fetal Intestine Small	intestine
11	chr4:125583400-125591800	Weak transcription	Psoas Muscle	Psoas
12	chr4:125583400-125595000	Strong transcription	HUVEC	blood vessel
13	chr4:125584400-125591200	Weak transcription	Hela-S3	cervix
14	chr4:125584400-125593600	Strong transcription	NHDF-Ad	bronchial
15	chr4:125584800-125591800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr4:125585600-125590600	Weak transcription	Ovary	ovary
17	chr4:125586400-125591000	Weak transcription	Brain Angular Gyrus	brain
18	chr4:125586400-125591200	Weak transcription	Dnd41	blood
19	chr4:125586600-125593800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:125586800-125591200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:125586800-125594400	Strong transcription	HSMM	muscle
22	chr4:125587000-125593800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:125587000-125595000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:125587000-125597200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:125587000-125601000	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr4:125587200-125591600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:125587200-125594000	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr4:125587200-125594800	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr4:125587200-125594800	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr4:125587400-125594800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr4:125587800-125593800	Strong transcription	Osteobl	bone
32	chr4:125587800-125595200	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr4:125588000-125591000	Weak transcription	Brain Substantia Nigra	brain
34	chr4:125588000-125591200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr4:125588000-125595000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr4:125588200-125591200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr4:125588200-125591400	Weak transcription	Fetal Brain Male	brain
38	chr4:125588400-125590600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr4:125588600-125590800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr4:125588600-125591200	Weak transcription	HepG2	liver
41	chr4:125588600-125591600	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr4:125588600-125592000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr4:125588800-125590400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr4:125588800-125590600	Weak transcription	A549	lung
45	chr4:125589000-125590600	Weak transcription	Fetal Thymus	thymus
46	chr4:125589000-125590600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr4:125589000-125591200	Weak transcription	Spleen	Spleen
48	chr4:125589000-125595200	Strong transcription	Placenta	Placenta
49	chr4:125589200-125591000	Weak transcription	Thymus	Thymus
50	chr4:125589400-125591000	Weak transcription	Pancreas	Pancrea

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