Variant report

Variant	nsv945669
Chromosome Location	chr1:224334156-224336529
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224335933..224338116-chr1:224346191..224348944,2	K562	blood:
2	chr1:224334889..224338444-chr1:224339776..224343070,5	K562	blood:
3	chr1:224334889..224337691-chr1:224341206..224343070,2	K562	blood:

Extended variants
information (count: 115 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570392020	chr1:224334227-224334228	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs180748933	chr1:224334239-224334240	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549389707	chr1:224334242-224334243	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567711585	chr1:224334243-224334244	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531741904	chr1:224334288-224334289	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550851921	chr1:224334293-224334294	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368658208	chr1:224334301-224334302	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539590589	chr1:224334319-224334320	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557694397	chr1:224334350-224334351	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566543633	chr1:224334392-224334393	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142812392	chr1:224334394-224334395	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545383232	chr1:224334405-224334406	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11380085	chr1:224334415-224334416	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76526657	chr1:224334423-224334424	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78328697	chr1:224334424-224334425	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76538471	chr1:224334427-224334428	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs80181541	chr1:224334428-224334429	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533679930	chr1:224334433-224334434	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371988111	chr1:224334441-224334442	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554938228	chr1:224334472-224334473	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374026510	chr1:224334479-224334480	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6657160	chr1:224334483-224334484	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs371362499	chr1:224334501-224334502	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376863691	chr1:224334505-224334506	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556414672	chr1:224334528-224334529	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs578209603	chr1:224334592-224334593	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184058768	chr1:224334606-224334607	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189514919	chr1:224334613-224334614	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs527783710	chr1:224334650-224334651	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541466702	chr1:224334683-224334684	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs61826374	chr1:224334766-224334767	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs531702930	chr1:224334776-224334777	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550220269	chr1:224334811-224334812	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182099778	chr1:224334815-224334816	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569111406	chr1:224334848-224334849	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533107061	chr1:224334854-224334855	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112014790	chr1:224334859-224334860	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372885552	chr1:224334880-224334881	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566594425	chr1:224334891-224334892	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533739436	chr1:224334916-224334917	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12755617	chr1:224334940-224334941	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4653989	chr1:224334951-224334952	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs4653990	chr1:224334954-224334955	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375990214	chr1:224334985-224334986	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs111498934	chr1:224334990-224334991	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs58980875	chr1:224334998-224334999	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555922984	chr1:224335054-224335055	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs578190434	chr1:224335069-224335070	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9792911	chr1:224335096-224335097	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375435774	chr1:224335122-224335123	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224303000-224363400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:224314400-224343400	Weak transcription	Psoas Muscle	Psoas
3	chr1:224316600-224352200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:224319200-224335000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:224320200-224344800	Weak transcription	Gastric	stomach
6	chr1:224320200-224345000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:224320200-224345000	Weak transcription	HUVEC	blood vessel
8	chr1:224320400-224344800	Weak transcription	Small Intestine	intestine
9	chr1:224320400-224345000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:224320400-224345000	Weak transcription	Right Ventricle	heart
11	chr1:224320400-224345200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:224320600-224344000	Weak transcription	Brain Germinal Matrix	brain
13	chr1:224320600-224345000	Weak transcription	Pancreas	Pancrea
14	chr1:224320600-224345200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:224320800-224339000	Weak transcription	A549	lung
16	chr1:224320800-224343200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:224320800-224344200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr1:224320800-224344800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr1:224320800-224345200	Weak transcription	Brain Substantia Nigra	brain
20	chr1:224321000-224337200	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:224321000-224338400	Weak transcription	Brain Angular Gyrus	brain
22	chr1:224321000-224343200	Weak transcription	Colon Smooth Muscle	Colon
23	chr1:224321000-224343400	Weak transcription	Fetal Brain Male	brain
24	chr1:224321000-224344200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:224321000-224344800	Weak transcription	NHLF	lung
26	chr1:224321000-224345000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr1:224321000-224345400	Weak transcription	Fetal Heart	heart
28	chr1:224322000-224345400	Weak transcription	HMEC	breast
29	chr1:224322400-224336200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:224322400-224337600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:224322600-224345000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:224323000-224335400	Strong transcription	Fetal Intestine Small	intestine
33	chr1:224323000-224337000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:224323000-224337200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:224323000-224341000	Weak transcription	NH-A	brain
36	chr1:224323000-224343200	Weak transcription	NHDF-Ad	bronchial
37	chr1:224324200-224337000	Weak transcription	Hela-S3	cervix
38	chr1:224324200-224343800	Weak transcription	HepG2	liver
39	chr1:224325000-224351000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr1:224326200-224345200	Weak transcription	Colonic Mucosa	Colon
41	chr1:224326800-224344000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr1:224327000-224340200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr1:224327000-224345000	Weak transcription	GM12878-XiMat	blood
44	chr1:224327200-224341000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr1:224327400-224343200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:224327400-224343400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr1:224327400-224344000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr1:224327600-224340200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:224327600-224340800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:224327600-224356400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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