Variant report

Variant	nsv593873
Chromosome Location	chr4:26950265-26957385
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	chr4:26857143..26859433-chr4:26950614..26952186,2	K562	blood:

Variant related genes	Relation type
ENSG00000109689	chromatin interactions

Extended variants
information (count: 230 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:230 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10030655	chr4:26950265-26950266	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs375428890	chr4:26950271-26950272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77538515	chr4:26950388-26950389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558423142	chr4:26950404-26950405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572297436	chr4:26950419-26950420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138161472	chr4:26950516-26950517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74898626	chr4:26950525-26950526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567959754	chr4:26950526-26950527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533735807	chr4:26950559-26950560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547088117	chr4:26950592-26950593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571092067	chr4:26950596-26950597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376248503	chr4:26950655-26950656	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs182754947	chr4:26950670-26950671	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs143988016	chr4:26950671-26950672	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs186150070	chr4:26950713-26950714	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs192260312	chr4:26950736-26950737	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs540600977	chr4:26950760-26950761	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs183098565	chr4:26950820-26950821	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs572454781	chr4:26950833-26950834	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs541378578	chr4:26950846-26950847	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs560319831	chr4:26950921-26950922	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs187771388	chr4:26950930-26950931	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs191974518	chr4:26950972-26950973	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs6448488	chr4:26950987-26950988	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs545725355	chr4:26951019-26951020	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs562332946	chr4:26951029-26951030	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs531448568	chr4:26951039-26951040	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs78528726	chr4:26951040-26951041	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs182939048	chr4:26951057-26951058	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs561781849	chr4:26951134-26951135	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs118093555	chr4:26951146-26951147	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs36048539	chr4:26951262-26951263	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs188176069	chr4:26951321-26951322	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs563023961	chr4:26951322-26951323	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs531950566	chr4:26951354-26951355	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs540123833	chr4:26951366-26951367	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs564133135	chr4:26951373-26951374	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs550537701	chr4:26951393-26951394	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs148667170	chr4:26951410-26951411	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs536012581	chr4:26951416-26951417	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs114335213	chr4:26951448-26951449	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs566133988	chr4:26951470-26951471	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs141451347	chr4:26951520-26951521	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs577626744	chr4:26951550-26951551	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs192797235	chr4:26951595-26951596	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs577655178	chr4:26951633-26951634	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs538806835	chr4:26951641-26951642	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs184430492	chr4:26951645-26951646	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs555993330	chr4:26951666-26951667	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs575941821	chr4:26951699-26951700	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
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
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26911600-26965800	Weak transcription	HMEC	breast
2	chr4:26923200-26965800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:26923200-26977200	Weak transcription	Thymus	Thymus
4	chr4:26923400-26954400	Weak transcription	HSMM	muscle
5	chr4:26923400-26960600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr4:26924400-26955200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr4:26938600-26969000	Weak transcription	Gastric	stomach
8	chr4:26938800-26965600	Weak transcription	NHLF	lung
9	chr4:26939000-26954000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr4:26939200-26969000	Weak transcription	Pancreas	Pancrea
11	chr4:26942000-26961000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr4:26942600-26950400	Weak transcription	Left Ventricle	heart
13	chr4:26943200-26955000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr4:26944000-26950600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr4:26944000-26952000	Weak transcription	Primary T cells from cord blood	blood
16	chr4:26944200-26952000	Weak transcription	Fetal Stomach	stomach
17	chr4:26944200-26952800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr4:26944400-26965600	Weak transcription	Brain Anterior Caudate	brain
19	chr4:26945200-26952000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:26945200-26954600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr4:26945200-26956800	Weak transcription	Brain Angular Gyrus	brain
22	chr4:26945400-26954600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr4:26947600-26951600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr4:26948400-26952200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:26948400-26952200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr4:26948800-26952800	Strong transcription	Primary B cells from cord blood	blood
27	chr4:26949000-26952000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:26949200-26965600	Weak transcription	NH-A	brain
29	chr4:26949400-26952000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr4:26949400-26963400	Weak transcription	Lung	lung
31	chr4:26950000-26951400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr4:26950000-26980200	Weak transcription	Spleen	Spleen
33	chr4:26950200-26951200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr4:26950200-26954200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr4:26950200-26979400	Weak transcription	Ovary	ovary
36	chr4:26950400-26959600	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr4:26951200-26952400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
38	chr4:26951400-26951800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:26951600-26952600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
40	chr4:26951800-26960200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:26952000-26952200	ZNF genes & repeats	Fetal Stomach	stomach
42	chr4:26952000-26952400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:26952000-26952400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
44	chr4:26952000-26952600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
45	chr4:26952000-26952800	ZNF genes & repeats	Fetal Muscle Leg	muscle
46	chr4:26952000-26953600	ZNF genes & repeats	Primary T cells from cord blood	blood
47	chr4:26952200-26952400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:26952200-26953000	Weak transcription	Fetal Stomach	stomach
49	chr4:26952400-26954600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:26952400-26958800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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