Variant report

Variant	nsv468249
Chromosome Location	chr1:228016370-228045508
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:227912232..227914345-chr1:228021397..228023530,2	K562	blood:
2	chr1:228043935..228045545-chr1:228052493..228054458,2	K562	blood:
3	chr1:228032607..228033237-chr1:228089693..228090487,2	MCF-7	breast:
4	chr1:228031958..228038374-chr1:228038684..228045094,10	K562	blood:
5	chr1:228032135..228035495-chr1:228035630..228038302,4	MCF-7	breast:
6	chr1:228032135..228035495-chr1:228035630..228038302,4	MCF-7	breast:
7	chr1:228020602..228022797-chr1:228027423..228029400,2	K562	blood:
8	chr1:228024720..228027679-chr1:228032169..228034658,3	K562	blood:
9	chr1:228024720..228027679-chr1:228032169..228034658,3	K562	blood:
10	chr1:228020602..228022797-chr1:228027423..228029400,2	K562	blood:
11	chr1:228031958..228038374-chr1:228038684..228045094,10	K562	blood:

No data

Extended variants
information (count: 703 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:703 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1582114	chr1:228016370-228016371	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138995958	chr1:228016384-228016385	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35941477	chr1:228016392-228016393	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576005890	chr1:228016406-228016407	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191841755	chr1:228016408-228016409	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34102637	chr1:228016458-228016459	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184061471	chr1:228016459-228016460	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs398074710	chr1:228016462-228016463	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs397983100	chr1:228016463-228016464	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372518484	chr1:228016464-228016465	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573852442	chr1:228016501-228016502	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573270143	chr1:228016537-228016538	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540693204	chr1:228016566-228016567	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140539856	chr1:228016636-228016637	Bivalent Enhancer Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs529282037	chr1:228016646-228016647	Bivalent Enhancer Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs544188774	chr1:228016687-228016688	Bivalent Enhancer Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs1113474	chr1:228016738-228016739	Bivalent Enhancer Enhancers Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs533020346	chr1:228016803-228016804	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144384383	chr1:228016824-228016825	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560269302	chr1:228016825-228016826	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs28660431	chr1:228016826-228016827	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
22	rs187889028	chr1:228016900-228016901	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567359407	chr1:228016901-228016902	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553075180	chr1:228016913-228016914	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74982771	chr1:228016919-228016920	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549749730	chr1:228016972-228016973	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138951620	chr1:228016975-228016976	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375798631	chr1:228016978-228016979	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531859579	chr1:228026034-228026035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543951161	chr1:228026035-228026036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565242914	chr1:228026101-228026102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191094897	chr1:228026108-228026109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550302963	chr1:228026110-228026111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547832226	chr1:228026123-228026124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569318374	chr1:228026124-228026125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566105433	chr1:228026130-228026131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141148805	chr1:228026179-228026180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116298751	chr1:228026181-228026182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569929760	chr1:228026200-228026201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536855136	chr1:228026230-228026231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375374390	chr1:228026349-228026350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538463309	chr1:228026376-228026377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557433898	chr1:228028805-228028806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115755710	chr1:228028850-228028851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568597974	chr1:228028899-228028900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558973330	chr1:228028914-228028915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557704426	chr1:228028998-228028999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572877625	chr1:228029040-228029041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79751070	chr1:228029041-228029042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs16848160	chr1:228029055-228029056	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:91)

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
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
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	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
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228014800-228016800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr1:228015000-228016800	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr1:228015800-228017000	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr1:228016000-228017000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr1:228016200-228016600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:228016200-228017000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:228016600-228016800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:228016600-228017000	Enhancers	Dnd41	blood
9	chr1:228016600-228017000	Enhancers	HMEC	breast
10	chr1:228026000-228026400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:228028800-228029600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:228029000-228029200	Enhancers	K562	blood
13	chr1:228029200-228029400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:228029200-228033200	Weak transcription	K562	blood
15	chr1:228029600-228032000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:228031800-228032200	Enhancers	Primary T cells fromperipheralblood	blood
17	chr1:228031800-228032400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr1:228031800-228032400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:228032000-228032800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:228032200-228032800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr1:228032400-228032800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr1:228032800-228033200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:228033000-228033600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:228033200-228034000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:228033200-228035800	Enhancers	K562	blood
26	chr1:228034000-228034400	Enhancers	HSMM	muscle
27	chr1:228035800-228037000	Flanking Active TSS	K562	blood
28	chr1:228036200-228036800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
29	chr1:228037000-228038800	Enhancers	K562	blood
30	chr1:228038800-228040000	Weak transcription	K562	blood
31	chr1:228040000-228041600	Enhancers	K562	blood
32	chr1:228041600-228042600	Weak transcription	K562	blood
33	chr1:228042600-228043000	Active TSS	K562	blood
34	chr1:228043000-228043400	Flanking Active TSS	K562	blood
35	chr1:228043400-228046000	Enhancers	K562	blood
36	chr1:228045200-228045600	Enhancers	Brain Cingulate Gyrus	brain
37	chr1:228045200-228045600	Enhancers	Brain Substantia Nigra	brain
38	chr1:228045200-228046000	Enhancers	Brain Hippocampus Middle	brain

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