Variant report

Variant	nsv594130
Chromosome Location	chr4:48720168-48721776
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48720217..48721926-chr4:48727442..48730398,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs955683	chr4:48720194-48720195	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs71595613	chr4:48720219-48720220	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552579725	chr4:48720257-48720258	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs151050776	chr4:48720276-48720277	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187873335	chr4:48720353-48720354	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192608985	chr4:48720388-48720389	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541894609	chr4:48720407-48720408	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574692001	chr4:48720450-48720451	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184944631	chr4:48720474-48720475	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553721908	chr4:48720501-48720502	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572085593	chr4:48720506-48720507	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140735363	chr4:48720529-48720530	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144652534	chr4:48720559-48720560	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs62309750	chr4:48720564-48720565	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575642211	chr4:48720576-48720577	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544455300	chr4:48720590-48720591	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563193831	chr4:48720601-48720602	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs188801655	chr4:48720618-48720619	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs147870702	chr4:48720635-48720636	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs557713648	chr4:48720636-48720637	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs78282941	chr4:48720666-48720667	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs527755798	chr4:48720681-48720682	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs115097924	chr4:48720733-48720734	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs954608	chr4:48720783-48720784	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs538242312	chr4:48720787-48720788	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs192061115	chr4:48720851-48720852	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs76858180	chr4:48720872-48720873	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs60696356	chr4:48720875-48720876	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs34298829	chr4:48720970-48720971	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs11732876	chr4:48720985-48720986	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs369520595	chr4:48721025-48721026	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs539766106	chr4:48721106-48721107	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs184706626	chr4:48721211-48721212	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs551617926	chr4:48721290-48721291	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs2354314	chr4:48721327-48721328	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs147111341	chr4:48721345-48721346	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs561562532	chr4:48721362-48721363	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs79186097	chr4:48721474-48721475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555266572	chr4:48721484-48721485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73815322	chr4:48721490-48721491	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs560700201	chr4:48721492-48721493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527896010	chr4:48721499-48721500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546468402	chr4:48721541-48721542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189437178	chr4:48721551-48721552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531878555	chr4:48721565-48721566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550129806	chr4:48721588-48721589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568384754	chr4:48721602-48721603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529152400	chr4:48721621-48721622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368900869	chr4:48721623-48721624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs367691434	chr4:48721633-48721634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	21115979	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	16272173	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48621200-48729400	Weak transcription	Thymus	Thymus
2	chr4:48700200-48730800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:48701000-48729600	Weak transcription	Aorta	Aorta
4	chr4:48701800-48724600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:48702800-48720800	Weak transcription	Small Intestine	intestine
6	chr4:48703400-48722800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr4:48705600-48728800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:48707400-48720800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:48709000-48720200	Weak transcription	HepG2	liver
10	chr4:48709000-48723600	Weak transcription	Left Ventricle	heart
11	chr4:48709000-48724600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:48709000-48726400	Weak transcription	Ovary	ovary
13	chr4:48711200-48720600	Weak transcription	Fetal Intestine Small	intestine
14	chr4:48711800-48724400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:48712000-48723200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:48712200-48724000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr4:48712200-48724400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr4:48712400-48721000	Weak transcription	Liver	Liver
19	chr4:48712400-48721000	Weak transcription	Brain Anterior Caudate	brain
20	chr4:48712400-48727200	Weak transcription	HSMM	muscle
21	chr4:48712600-48724000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr4:48712600-48724600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr4:48712800-48724400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr4:48712800-48727800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:48712800-48728200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr4:48712800-48731000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr4:48713000-48720800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:48713000-48720800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr4:48713000-48724000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:48713000-48724200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr4:48713000-48724800	Weak transcription	NHEK	skin
32	chr4:48713000-48725200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr4:48713000-48727800	Weak transcription	HMEC	breast
34	chr4:48713000-48728200	Weak transcription	Primary B cells from cord blood	blood
35	chr4:48713000-48728200	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr4:48713200-48724200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr4:48713200-48724400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:48716000-48724000	Weak transcription	Brain Hippocampus Middle	brain
39	chr4:48718600-48721400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr4:48719000-48724000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:48719400-48720200	ZNF genes & repeats	Dnd41	blood
42	chr4:48719600-48720200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr4:48719600-48720400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr4:48719600-48721600	Enhancers	Brain Substantia Nigra	brain
45	chr4:48719800-48724200	Weak transcription	Primary T cells from cord blood	blood
46	chr4:48720000-48720400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:48720000-48720600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr4:48720000-48720800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr4:48720000-48727800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:48720000-48727800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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