Variant report

Variant	nsv548035
Chromosome Location	chr1:158962257-158966178
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr1:158966132-158966379	GM12878	blood:	n/a	n/a
2	BATF	chr1:158966067-158966420	GM12878	blood:	n/a	n/a
3	BCL11A	chr1:158966081-158966327	GM12878	blood:	n/a	n/a
4	BCLAF1	chr1:158966155-158966402	GM12878	blood:	n/a	n/a
5	BHLHE40	chr1:158966157-158966444	GM12878	blood:	n/a	n/a
6	EBF1	chr1:158966040-158966372	GM12878	blood:	n/a	n/a
7	EBF1	chr1:158966107-158966403	GM12878	blood:	n/a	n/a
8	EBF1	chr1:158966082-158966463	GM12878	blood:	n/a	n/a
9	EP300	chr1:158966113-158966362	GM12878	blood:	n/a	n/a
10	EP300	chr1:158966176-158966423	GM12878	blood:	n/a	n/a
11	FOS	chr1:158962797-158962949	MCF10A-Er-Src	breast:	n/a	n/a
12	IRF4	chr1:158966111-158966465	GM12878	blood:	n/a	n/a
13	MAX	chr1:158966142-158966334	GM12878	blood:	n/a	n/a
14	POLR2A	chr1:158962487-158962490	K562	blood:	n/a	n/a
15	RUNX3	chr1:158966018-158966434	GM12878	blood:	n/a	n/a
16	RUNX3	chr1:158966039-158966382	GM12878	blood:	n/a	n/a
17	SMC3	chr1:158966147-158966261	GM12878	blood:	n/a	n/a
18	USF2	chr1:158966173-158966460	GM12878	blood:	n/a	n/a
19	YY1	chr1:158966037-158966302	GM12892	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:158954353..158956986-chr1:158959866..158962635,3	K562	blood:
2	chr1:158954353..158956986-chr1:158959866..158962393,2	K562	blood:

No data

Variant related genes	Relation type
IFI16	TF binding region

Extended variants
information (count: 158 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:158 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12122282	chr1:158962257-158962258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115329496	chr1:158962380-158962381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559323754	chr1:158962405-158962406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111394679	chr1:158962436-158962437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555165057	chr1:158962458-158962459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572951788	chr1:158962484-158962485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567090954	chr1:158962485-158962486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545174167	chr1:158962500-158962501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201751618	chr1:158962549-158962550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188348488	chr1:158962555-158962556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114211681	chr1:158962561-158962562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557916312	chr1:158962576-158962577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs137980805	chr1:158962595-158962596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114740408	chr1:158962613-158962614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199854251	chr1:158962647-158962648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78643366	chr1:158962650-158962651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142080898	chr1:158962656-158962657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74214257	chr1:158962663-158962664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201546969	chr1:158962682-158962683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551524110	chr1:158962708-158962709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571331482	chr1:158962722-158962723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138663514	chr1:158962725-158962726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557024394	chr1:158962744-158962745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573572236	chr1:158962749-158962750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536163702	chr1:158962750-158962751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs193033306	chr1:158962762-158962763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556525266	chr1:158962767-158962768	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75000900	chr1:158962774-158962775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79536632	chr1:158962812-158962813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559890258	chr1:158962847-158962848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544768696	chr1:158962871-158962872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142723086	chr1:158962901-158962902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545680408	chr1:158962908-158962909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77302692	chr1:158962916-158962917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78560082	chr1:158962924-158962925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549467732	chr1:158962955-158962956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577651788	chr1:158963032-158963033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75622450	chr1:158963040-158963041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562180688	chr1:158963053-158963054	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371867195	chr1:158963060-158963061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547541238	chr1:158963191-158963192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7539283	chr1:158963274-158963275	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs563508919	chr1:158963281-158963282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534433647	chr1:158963348-158963349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115520955	chr1:158963355-158963356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571011044	chr1:158963356-158963357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185248154	chr1:158963399-158963400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556250188	chr1:158963406-158963407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574517082	chr1:158963459-158963460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560814120	chr1:158963480-158963481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	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
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158950800-158965600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:158951200-158965600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:158953600-158965400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr1:158953600-158965600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:158954400-158968400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr1:158955000-158968200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:158955800-158963600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:158956600-158966000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:158957000-158965800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:158960600-158963200	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr1:158960800-158965600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:158960800-158975400	Weak transcription	Spleen	Spleen
13	chr1:158961000-158965800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:158961000-158968200	Weak transcription	Primary B cells from cord blood	blood
15	chr1:158961400-158963000	Strong transcription	Primary T cells from cord blood	blood
16	chr1:158962000-158965600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr1:158963000-158968200	Weak transcription	Primary T cells from cord blood	blood
18	chr1:158963200-158965600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr1:158963600-158965400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr1:158964800-158965000	ZNF genes & repeats	Fetal Kidney	kidney
21	chr1:158965000-158968200	Weak transcription	Fetal Kidney	kidney
22	chr1:158965400-158966000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr1:158965400-158968800	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr1:158965600-158965800	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr1:158965600-158966800	Enhancers	Primary T cells fromperipheralblood	blood
26	chr1:158965600-158966800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:158965600-158968000	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr1:158965600-158969000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:158965600-158969000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:158965800-158966000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:158965800-158966000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr1:158965800-158966200	Enhancers	Primary B cells from peripheral blood	blood
33	chr1:158965800-158966200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:158965800-158968200	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr1:158965800-158968600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:158966000-158966200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr1:158966000-158966400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr1:158966000-158966600	Enhancers	GM12878-XiMat	blood
39	chr1:158966000-158966800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:158966000-158967200	Enhancers	Primary T killer memory cells from peripheral blood	blood

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