Variant report

Variant	nsv822627
Chromosome Location	chr4:79830874-79831754
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:79829830..79832841-chr4:79834364..79837824,5	K562	blood:
2	chr4:79831058..79832655-chr4:79840506..79842015,2	K562	blood:
3	chr4:79830154..79832739-chr4:79833941..79836867,6	K562	blood:
4	chr4:79825919..79829336-chr4:79829339..79831601,4	K562	blood:
5	chr4:79823132..79825694-chr4:79828632..79830875,4	K562	blood:
6	chr4:79829059..79831029-chr4:79832192..79834992,2	MCF-7	breast:
7	chr4:79805590..79808034-chr4:79829365..79831567,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540761386	chr4:79830878-79830879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182307943	chr4:79830879-79830880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532576595	chr4:79830890-79830891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77725780	chr4:79830905-79830906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145563328	chr4:79830975-79830976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111573624	chr4:79831049-79831050	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529066446	chr4:79831054-79831055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs72660918	chr4:79831056-79831057	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs114678465	chr4:79831081-79831082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78382932	chr4:79831096-79831097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200145148	chr4:79831103-79831104	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79374120	chr4:79831188-79831189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143490395	chr4:79831235-79831236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566329063	chr4:79831251-79831252	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187014321	chr4:79831263-79831264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564320574	chr4:79831282-79831283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147986852	chr4:79831300-79831301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191831821	chr4:79831313-79831314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538156711	chr4:79831314-79831315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533182174	chr4:79831337-79831338	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554853694	chr4:79831367-79831368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575021289	chr4:79831524-79831525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540347064	chr4:79831531-79831532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535978780	chr4:79831584-79831585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs17003499	chr4:79831620-79831621	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs577428868	chr4:79831692-79831693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs17003500	chr4:79831736-79831737	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:76)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	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
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79779800-79858200	Weak transcription	Fetal Brain Male	brain
2	chr4:79785000-79832400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:79786600-79831800	Weak transcription	Spleen	Spleen
4	chr4:79794200-79831800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:79794200-79832000	Weak transcription	Fetal Brain Female	brain
6	chr4:79794200-79832200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr4:79794200-79850000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:79794200-79859600	Weak transcription	Colonic Mucosa	Colon
9	chr4:79794400-79850000	Weak transcription	Pancreas	Pancrea
10	chr4:79794800-79832000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr4:79794800-79850200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr4:79794800-79858000	Weak transcription	HepG2	liver
13	chr4:79795000-79832200	Weak transcription	Aorta	Aorta
14	chr4:79795000-79838200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr4:79795400-79832200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:79795400-79832200	Weak transcription	Right Ventricle	heart
17	chr4:79795400-79832400	Weak transcription	Esophagus	oesophagus
18	chr4:79796400-79844800	Weak transcription	Fetal Heart	heart
19	chr4:79796800-79831800	Weak transcription	HMEC	breast
20	chr4:79798000-79838400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:79798400-79835400	Weak transcription	Brain Angular Gyrus	brain
22	chr4:79799000-79831800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:79799200-79858000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr4:79805600-79832200	Weak transcription	Fetal Intestine Small	intestine
25	chr4:79805600-79832200	Weak transcription	Fetal Stomach	stomach
26	chr4:79806000-79832000	Weak transcription	Lung	lung
27	chr4:79809600-79831800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr4:79809800-79838400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr4:79810000-79832000	Weak transcription	NHEK	skin
30	chr4:79810000-79838200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr4:79810600-79831600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr4:79812000-79842800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr4:79814600-79859600	Weak transcription	Fetal Kidney	kidney
34	chr4:79814800-79831800	Weak transcription	Osteobl	bone
35	chr4:79814800-79837800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr4:79815000-79831600	Weak transcription	GM12878-XiMat	blood
37	chr4:79815000-79832200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr4:79815200-79832000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr4:79815200-79845400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr4:79815400-79832200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:79815400-79832800	Weak transcription	Brain Substantia Nigra	brain
42	chr4:79815600-79831600	Weak transcription	Brain Anterior Caudate	brain
43	chr4:79815600-79831800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr4:79815600-79832200	Weak transcription	Thymus	Thymus
45	chr4:79815800-79831400	Weak transcription	NH-A	brain
46	chr4:79815800-79832000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr4:79815800-79838200	Weak transcription	Psoas Muscle	Psoas
48	chr4:79815800-79838400	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr4:79815800-79846600	Weak transcription	Colon Smooth Muscle	Colon
50	chr4:79816000-79831400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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