Variant report

Variant	nsv518819
Chromosome Location	chr1:158901127-158903252
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:158901266-158901370	IMR90	lung:	n/a	n/a
2	FOS	chr1:158902117-158902272	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr1:158902647-158902662	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr1:158901725-158901925	MCF10A-Er-Src	breast:	n/a	n/a
5	RFX5	chr1:158902592-158903045	K562	blood:	n/a	n/a
6	SPI1	chr1:158901237-158901428	GM12891	blood:	n/a	n/a
7	SPI1	chr1:158901093-158901596	HL-60	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:158901938-158901988	SK-N-MC	brain:	n/a
2	chr1:158901938-158901988	HCM	heart:	n/a
3	chr1:158901938-158901988	A549	lung:	n/a
4	chr1:158901938-158901988	HEEpiC	esophagus:	n/a
5	chr1:158901938-158901988	ovcar-3	ovarian:	n/a
6	chr1:158901938-158901988	HAEpiC	amniotic membrane:	n/a
7	chr1:158901938-158901988	NT2-D1	testis:	n/a
8	chr1:158901938-158901988	AG09319	gingival:	n/a
9	chr1:158901938-158901988	AG04449	skin:	fetal
10	chr1:158901938-158901988	AG10803	skin:	n/a
11	chr1:158901938-158901988	HEK293	kidney:	embryo
12	chr1:158901938-158901988	RPTEC	kidney:	n/a
13	chr1:158901938-158901988	GM12878	blood:	n/a
14	chr1:158901938-158901988	HMEC	breast:	n/a
15	chr1:158901938-158901988	HRPEpiC	eye:	n/a
16	chr1:158901938-158901988	HCPEpiC	choroid plexus:	n/a
17	chr1:158901938-158901988	H1-hESC	embryonic stem cell:	embryo
18	chr1:158901938-158901988	HIPEpiC	eye:	n/a
19	chr1:158901938-158901988	T-47D	breast:	n/a
20	chr1:158901938-158901988	ECC-1	luminal epithelium:	n/a
21	chr1:158901938-158901988	HRE	kidney:	n/a
22	chr1:158901938-158901988	Hepatocyte	liver:	n/a
23	chr1:158901938-158901988	GM19239	blood:	n/a
24	chr1:158901938-158901988	IMR90	lung:	fetal
25	chr1:158901938-158901988	HCF	heart:	n/a
26	chr1:158901938-158901988	SKMC	muscle:	n/a
27	chr1:158901938-158901988	NB4	blood:	n/a
28	chr1:158901938-158901988	HL-60	blood:	n/a
29	chr1:158901938-158901988	PFSK-1	brain:	n/a
30	chr1:158901938-158901988	ProgFib	skin:	n/a
31	chr1:158901938-158901988	SK-N-SH_RA	brain:	n/a
32	chr1:158901938-158901988	SAEC	small airway:	n/a
33	chr1:158901938-158901988	HRCEpiC	kidney:	n/a
34	chr1:158901938-158901988	MCF-7	breast:	n/a
35	chr1:158901938-158901988	BJ	skin:	n/a
36	chr1:158901938-158901988	U87	brain:	n/a
37	chr1:158901938-158901988	AG09309	skin:	n/a
38	chr1:158901938-158901988	AoSMC	blood vessel:	n/a
39	chr1:158901938-158901988	MCF10A-Er-Src	breast:	n/a
40	chr1:158901938-158901988	PrEC	prostate:	n/a
41	chr1:158901938-158901988	HNPCEpiC	eye:	n/a
42	chr1:158901938-158901988	HUVEC	blood vessel:	n/a
43	chr1:158901938-158901988	Jurkat	blood:	n/a
44	chr1:158901938-158901988	NHBE	bronchial:	n/a
45	chr1:158901938-158901988	HepG2	liver:	n/a
46	chr1:158901938-158901988	HCT-116	colon:	n/a
47	chr1:158901938-158901988	NH-A	brain:	n/a
48	chr1:158901938-158901988	SK-N-SH	brain:	n/a
49	chr1:158901938-158901988	BE2_C	brain:	n/a
50	chr1:158901938-158901988	NHDF-neo	bronchial:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:158900682..158902203-chr1:158976628..158979178,2	K562	blood:

No data

Variant related genes	Relation type
PYHIN1	TF binding region
PYHIN1	CpG island
ENSG00000163565	chromatin interactions

Extended variants
information (count: 67 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16841336	chr1:158901127-158901128	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs562801827	chr1:158901160-158901161	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs537774698	chr1:158901234-158901235	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs369384180	chr1:158901306-158901307	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs34729475	chr1:158901310-158901311	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs555775440	chr1:158901380-158901381	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs200674437	chr1:158901488-158901489	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs79327872	chr1:158901513-158901514	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs576126595	chr1:158901524-158901525	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs11265119	chr1:158901550-158901551	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs541505182	chr1:158901558-158901559	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs73019873	chr1:158901566-158901567	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs372291891	chr1:158901649-158901650	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs544774887	chr1:158901672-158901673	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs11265120	chr1:158901675-158901676	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs530701933	chr1:158901716-158901717	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs548895452	chr1:158901800-158901801	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs138432341	chr1:158901833-158901834	Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs528115030	chr1:158901839-158901840	Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs78112924	chr1:158901879-158901880	Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs79500700	chr1:158901938-158901939	Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs192220176	chr1:158901962-158901963	Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs551986906	chr1:158901978-158901979	Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs570289650	chr1:158902014-158902015	Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs537737788	chr1:158902062-158902063	Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs568754642	chr1:158902072-158902073	Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs147252366	chr1:158902079-158902080	Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs556136863	chr1:158902080-158902081	Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs148616203	chr1:158902097-158902098	Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs371003150	chr1:158902133-158902134	Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs567954725	chr1:158902160-158902161	Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs534661729	chr1:158902190-158902191	Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs553351704	chr1:158902247-158902248	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1476438	chr1:158902276-158902277	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs149434327	chr1:158902334-158902335	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6675945	chr1:158902344-158902345	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs575145341	chr1:158902378-158902379	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372680254	chr1:158902424-158902425	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560984458	chr1:158902448-158902449	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183997368	chr1:158902486-158902487	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541984334	chr1:158902498-158902499	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561798788	chr1:158902520-158902521	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144764677	chr1:158902535-158902536	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532085995	chr1:158902538-158902539	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117738927	chr1:158902586-158902587	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570253809	chr1:158902675-158902676	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186632412	chr1:158902720-158902721	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191435949	chr1:158902800-158902801	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567832818	chr1:158902866-158902867	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571101633	chr1:158902881-158902882	Active TSS Weak 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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158899800-158901200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
2	chr1:158899800-158901400	Enhancers	Primary B cells from peripheral blood	blood
3	chr1:158899800-158901400	Enhancers	Dnd41	blood
4	chr1:158900000-158904600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:158900200-158901400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr1:158900400-158901600	Flanking Active TSS	Primary T cells from cord blood	blood
7	chr1:158900600-158901200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:158900600-158901400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:158900600-158902200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr1:158900600-158904400	Active TSS	Primary T cells fromperipheralblood	blood
11	chr1:158900600-158904400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:158900800-158901400	Weak transcription	Fetal Thymus	thymus
13	chr1:158900800-158903800	Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr1:158901000-158901200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr1:158901000-158901800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:158901000-158902200	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr1:158901000-158902800	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr1:158901000-158903800	Active TSS	Primary B cells from cord blood	blood
19	chr1:158901000-158903800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr1:158901000-158903800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:158901000-158904000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:158901000-158904200	Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr1:158901200-158902800	Active TSS	Adipose Nuclei	Adipose
24	chr1:158901200-158904200	Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr1:158901200-158904200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr1:158901200-158904400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:158901400-158901800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr1:158901400-158902000	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr1:158901400-158902200	Active TSS	Primary B cells from peripheral blood	blood
30	chr1:158901400-158902200	Active TSS	Fetal Thymus	thymus
31	chr1:158901400-158902800	Active TSS	Dnd41	blood
32	chr1:158901400-158903800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:158901400-158904200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:158901400-158904200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr1:158901600-158902200	Active TSS	Thymus	Thymus
36	chr1:158901600-158902400	Active TSS	Duodenum Mucosa	Duodenum
37	chr1:158901600-158903800	Active TSS	Primary T cells from cord blood	blood
38	chr1:158901800-158902000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:158901800-158902200	Active TSS	Liver	Liver
40	chr1:158901800-158902200	Active TSS	Placenta	Placenta
41	chr1:158901800-158902400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:158901800-158904200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:158902000-158902400	Enhancers	HMEC	breast
44	chr1:158902200-158903800	Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr1:158902200-158907800	Weak transcription	Thymus	Thymus
46	chr1:158902200-158920000	Weak transcription	Primary B cells from peripheral blood	blood
47	chr1:158902400-158903600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:158902800-158903800	Weak transcription	Rectal Mucosa Donor 29	rectum

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