Variant report

Variant	nsv4219
Chromosome Location	chr4:7672973-7694800
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:7663511..7665671-chr4:7672001..7674939,2	MCF-7	breast:
2	chr4:7689481..7691143-chr4:7694709..7696911,2	K562	blood:
3	chr4:7694728..7697240-chr4:7698261..7700395,2	K562	blood:
4	chr4:7673147..7675645-chr4:7680129..7682377,2	K562	blood:
5	chr4:7669139..7671615-chr4:7679846..7682094,2	MCF-7	breast:
6	chr4:7689481..7691143-chr4:7694709..7696911,2	K562	blood:
7	chr4:7694479..7696408-chr4:7701024..7702619,2	MCF-7	breast:
8	chr4:7688303..7691143-chr4:7693307..7696911,3	K562	blood:
9	chr12:130656532..130658768-chr4:7677612..7680283,2	MCF-7	breast:
10	chr4:7688303..7691143-chr4:7693307..7696911,3	K562	blood:
11	chr4:7673147..7675645-chr4:7680129..7682377,2	K562	blood:
12	chr4:7669509..7672314-chr4:7673040..7675673,2	MCF-7	breast:
13	chr4:7692723..7694463-chr4:7698220..7700534,2	MCF-7	breast:

No data

Extended variants
information (count: 1139 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1139 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564458717	chr4:7672980-7672981	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs112735003	chr4:7673028-7673029	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs528513761	chr4:7673030-7673031	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs540516054	chr4:7673033-7673034	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs144350640	chr4:7673034-7673035	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs367694688	chr4:7673043-7673044	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs111431313	chr4:7673049-7673050	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs75071426	chr4:7673070-7673071	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs398082843	chr4:7673078-7673079	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs529427085	chr4:7673092-7673093	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs78474620	chr4:7673171-7673172	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs551128265	chr4:7673244-7673245	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs79970055	chr4:7673263-7673264	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs564280620	chr4:7673267-7673268	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs185299472	chr4:7673272-7673273	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs552030308	chr4:7673287-7673288	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs570450748	chr4:7673316-7673317	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs534637608	chr4:7673317-7673318	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs141156164	chr4:7673344-7673345	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs568333008	chr4:7673348-7673349	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs528261915	chr4:7673360-7673361	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs540554295	chr4:7673391-7673392	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs557078310	chr4:7673397-7673398	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs374542479	chr4:7673421-7673422	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs575352215	chr4:7673450-7673451	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs539919970	chr4:7673479-7673480	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs530862213	chr4:7673500-7673501	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs572887713	chr4:7673501-7673502	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs540260516	chr4:7673543-7673544	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs7668169	chr4:7673546-7673547	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs34435398	chr4:7673568-7673569	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs75687793	chr4:7673569-7673570	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs115653943	chr4:7673617-7673618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142522541	chr4:7673633-7673634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113693730	chr4:7673635-7673636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375131081	chr4:7673662-7673663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550315145	chr4:7673664-7673665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569019006	chr4:7673669-7673670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34912914	chr4:7673687-7673688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs397878442	chr4:7673688-7673689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150999263	chr4:7673741-7673742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536318214	chr4:7673748-7673749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182324326	chr4:7673824-7673825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373596355	chr4:7673861-7673862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369312960	chr4:7673877-7673878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140884436	chr4:7673927-7673928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112582666	chr4:7673931-7673932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376802775	chr4:7673940-7673941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547242559	chr4:7673945-7673946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186410663	chr4:7673949-7673950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	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
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7659000-7680800	Weak transcription	Ovary	ovary
2	chr4:7660600-7684400	Weak transcription	Brain Angular Gyrus	brain
3	chr4:7661600-7684200	Weak transcription	Brain Substantia Nigra	brain
4	chr4:7665200-7694800	Weak transcription	Liver	Liver
5	chr4:7667800-7677000	Weak transcription	Brain Hippocampus Middle	brain
6	chr4:7669800-7684200	Weak transcription	Brain Anterior Caudate	brain
7	chr4:7670400-7684400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr4:7670800-7674200	Weak transcription	HepG2	liver
9	chr4:7671000-7677600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:7672400-7673000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
11	chr4:7673000-7673600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
12	chr4:7673600-7684000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr4:7674000-7676800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr4:7674200-7674800	Enhancers	HepG2	liver
15	chr4:7674400-7674800	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr4:7674600-7675400	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr4:7674800-7675200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:7674800-7675800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr4:7674800-7676000	Flanking Active TSS	HepG2	liver
20	chr4:7675000-7675200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:7675000-7678200	Weak transcription	Fetal Stomach	stomach
22	chr4:7675200-7675600	Enhancers	Placenta	Placenta
23	chr4:7675400-7676000	Enhancers	Gastric	stomach
24	chr4:7675600-7676000	Bivalent Enhancer	Placenta	Placenta
25	chr4:7675600-7676000	Enhancers	Spleen	Spleen
26	chr4:7675800-7676800	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr4:7676000-7677200	Enhancers	HepG2	liver
28	chr4:7676600-7677000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:7677000-7677200	Enhancers	Brain Hippocampus Middle	brain
30	chr4:7677000-7678200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:7677200-7682200	Weak transcription	HepG2	liver
32	chr4:7677200-7684400	Weak transcription	Brain Hippocampus Middle	brain
33	chr4:7677600-7677800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr4:7677600-7677800	Enhancers	Spleen	Spleen
35	chr4:7677600-7679000	Enhancers	Fetal Muscle Leg	muscle
36	chr4:7677600-7679200	Enhancers	Fetal Brain Male	brain
37	chr4:7677600-7682200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr4:7677600-7682400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr4:7677800-7678000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr4:7678000-7678200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr4:7678000-7679200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:7678200-7678400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:7678200-7678600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr4:7678200-7678600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr4:7678200-7678800	Enhancers	Fetal Stomach	stomach
46	chr4:7678200-7679000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr4:7678200-7679000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:7678200-7679000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr4:7678200-7679000	Enhancers	Fetal Lung	lung
50	chr4:7678200-7679400	Enhancers	Duodenum Smooth Muscle	Duodenum

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