Variant report

Variant	nsv819894
Chromosome Location	chr2:182346066-182347035
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 50 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184180804	chr2:182346101-182346102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139522373	chr2:182346126-182346127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17224524	chr2:182346146-182346147	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs544260030	chr2:182346164-182346165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149714369	chr2:182346177-182346178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529686638	chr2:182346190-182346191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs55971856	chr2:182346220-182346221	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs145579242	chr2:182346221-182346222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532246751	chr2:182346235-182346236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199944811	chr2:182346286-182346287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200541108	chr2:182346299-182346300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs202083263	chr2:182346302-182346303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200312042	chr2:182346308-182346309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201224078	chr2:182346317-182346318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531484568	chr2:182346335-182346336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs202002939	chr2:182346336-182346337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1047298	chr2:182346350-182346351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148901650	chr2:182346352-182346353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375619768	chr2:182346365-182346366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201013234	chr2:182346366-182346367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201838862	chr2:182346368-182346369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200276996	chr2:182346377-182346378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368298529	chr2:182346404-182346405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201063185	chr2:182346421-182346422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs202094226	chr2:182346422-182346423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200508864	chr2:182346446-182346447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs56384499	chr2:182346454-182346455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181649094	chr2:182346465-182346466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553234208	chr2:182346489-182346490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs16867429	chr2:182346528-182346529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2305590	chr2:182346544-182346545	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs559181939	chr2:182346557-182346558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570816911	chr2:182346585-182346586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575874317	chr2:182346587-182346588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367595858	chr2:182346591-182346592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566011387	chr2:182346607-182346608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544943597	chr2:182346615-182346616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374986168	chr2:182346618-182346619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555255111	chr2:182346672-182346673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574357566	chr2:182346775-182346776	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534801399	chr2:182346795-182346796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146519500	chr2:182346858-182346859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535575446	chr2:182346883-182346884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532210919	chr2:182346899-182346900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115341463	chr2:182346901-182346902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2305589	chr2:182346937-182346938	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs155098	chr2:182346954-182346955	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs141169448	chr2:182346957-182346958	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568007260	chr2:182346965-182346966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530088041	chr2:182347021-182347022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182324400-182410400	Weak transcription	NHLF	lung
2	chr2:182324600-182360400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:182328000-182346400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:182330000-182390200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:182331000-182347200	Weak transcription	NH-A	brain
6	chr2:182331400-182363400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:182331400-182382200	Weak transcription	HMEC	breast
8	chr2:182332200-182349200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr2:182332200-182353000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:182334600-182381400	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:182335000-182366800	Weak transcription	Fetal Stomach	stomach
12	chr2:182335000-182405800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr2:182335200-182356200	Weak transcription	Gastric	stomach
14	chr2:182336800-182346800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:182336800-182382800	Weak transcription	Small Intestine	intestine
16	chr2:182337000-182354000	Strong transcription	Primary B cells from cord blood	blood
17	chr2:182338000-182347200	Weak transcription	Esophagus	oesophagus
18	chr2:182338200-182363400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:182338200-182378400	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr2:182338200-182383400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:182338200-182399400	Weak transcription	Colonic Mucosa	Colon
22	chr2:182338200-182406800	Strong transcription	Fetal Thymus	thymus
23	chr2:182338200-182406800	Weak transcription	Spleen	Spleen
24	chr2:182338400-182382200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:182338600-182347000	Weak transcription	NHDF-Ad	bronchial
26	chr2:182338600-182354000	Strong transcription	Primary hematopoietic stem cells	blood
27	chr2:182338600-182405600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr2:182339000-182381000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:182339200-182380600	Strong transcription	Dnd41	blood
30	chr2:182339400-182405600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:182339800-182355200	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr2:182340000-182350200	Weak transcription	Fetal Kidney	kidney
33	chr2:182340000-182354600	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr2:182341600-182347200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:182341600-182348400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:182341800-182349600	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr2:182341800-182363400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:182342200-182351000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr2:182342600-182346600	Weak transcription	HSMM	muscle
40	chr2:182344400-182348600	Weak transcription	Liver	Liver
41	chr2:182344400-182349200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr2:182344400-182351200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
43	chr2:182344400-182352800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr2:182344400-182362000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:182344400-182367200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr2:182344600-182354600	Strong transcription	Primary T cells from cord blood	blood
47	chr2:182344600-182354600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr2:182345000-182346600	Strong transcription	GM12878-XiMat	blood
49	chr2:182345400-182347200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr2:182345400-182352200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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