Variant report

Variant	nsv947341
Chromosome Location	chr1:185651878-185664812
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	chr1:185655642..185657375-chr1:185671456..185674455,2	MCF-7	breast:
2	chr1:185284926..185286754-chr1:185654263..185656171,2	MCF-7	breast:
3	chr1:185650660..185654916-chr1:185660319..185663622,4	MCF-7	breast:
4	chr1:185655546..185657231-chr1:185661378..185664178,2	MCF-7	breast:
5	chr1:185650495..185652589-chr1:185660501..185663468,2	MCF-7	breast:
6	chr1:185621625..185622207-chr1:185664419..185664955,2	MCF-7	breast:
7	chr1:185650495..185652589-chr1:185660501..185663468,2	MCF-7	breast:
8	chr1:185650660..185654916-chr1:185660319..185663622,4	MCF-7	breast:
9	chr1:185647865..185651448-chr1:185655327..185657400,3	MCF-7	breast:
10	chr1:185647796..185649318-chr1:185655826..185657961,2	K562	blood:
11	chr1:185655546..185657231-chr1:185661378..185664178,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000116679	chromatin interactions

Extended variants
information (count: 164 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:164 , 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	rs529008193	chr1:185651878-185651879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541082026	chr1:185651889-185651890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200593802	chr1:185651950-185651951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7529259	chr1:185651973-185651974	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs541933339	chr1:185651995-185651996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534512339	chr1:185651998-185651999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs80178747	chr1:185652044-185652045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558111670	chr1:185652089-185652090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569913837	chr1:185652091-185652092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530661097	chr1:185652105-185652106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs180787676	chr1:185652177-185652178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563217991	chr1:185652198-185652199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544465913	chr1:185654040-185654041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142358143	chr1:185654041-185654042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373856988	chr1:185654064-185654065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115334226	chr1:185654087-185654088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542195763	chr1:185654088-185654089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560896353	chr1:185654116-185654117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572810103	chr1:185654120-185654121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540107237	chr1:185654147-185654148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182891992	chr1:185654166-185654167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73070908	chr1:185654205-185654206	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs551883572	chr1:185654207-185654208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552795699	chr1:185654210-185654211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530970813	chr1:185654297-185654298	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs549385851	chr1:185654343-185654344	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs567626922	chr1:185654410-185654411	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs114756478	chr1:185654421-185654422	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs73070909	chr1:185654512-185654513	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs575244463	chr1:185654536-185654537	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs538842913	chr1:185654559-185654560	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs545834758	chr1:185654606-185654607	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs557049049	chr1:185654622-185654623	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs574991981	chr1:185654642-185654643	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs568236105	chr1:185654646-185654647	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs535418035	chr1:185654650-185654651	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs187527191	chr1:185654665-185654666	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs540534783	chr1:185654712-185654713	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs558555543	chr1:185654717-185654718	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs145950750	chr1:185654718-185654719	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs563746242	chr1:185654855-185654856	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs139856109	chr1:185654896-185654897	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs563809937	chr1:185654906-185654907	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs73070910	chr1:185654959-185654960	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs192052079	chr1:185654974-185654975	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs185019688	chr1:185655033-185655034	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs528462765	chr1:185655040-185655041	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs75538594	chr1:185655061-185655062	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs528040405	chr1:185655087-185655088	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs571828136	chr1:185655169-185655170	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Glioblastoma multiforme	21080181	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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	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
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Barrett''s syndrome	19417022	CNVD
Schizophrenia	19197363	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185649800-185652000	Weak transcription	Fetal Heart	heart
2	chr1:185652000-185652200	Enhancers	Fetal Heart	heart
3	chr1:185654000-185655000	Enhancers	Fetal Brain Male	brain
4	chr1:185655000-185655600	Weak transcription	Fetal Brain Male	brain
5	chr1:185655600-185655800	Enhancers	Fetal Brain Male	brain
6	chr1:185662200-185662800	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr1:185662200-185662800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr1:185662200-185662800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:185662400-185662600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr1:185662400-185662600	Active TSS	Monocytes-CD14+_RO01746	blood
11	chr1:185662400-185662800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr1:185662400-185662800	Enhancers	Primary B cells from cord blood	blood
13	chr1:185662400-185663000	Enhancers	Primary B cells from peripheral blood	blood
14	chr1:185662400-185663000	Enhancers	Primary hematopoietic stem cells	blood
15	chr1:185662600-185662800	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr1:185662600-185662800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr1:185662600-185662800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:185662600-185663000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:185662600-185663000	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr1:185662600-185663000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr1:185662600-185663400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr1:185662600-185663800	ZNF genes & repeats	GM12878-XiMat	blood
23	chr1:185662600-185664000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr1:185662800-185663000	Enhancers	Primary T cells from cord blood	blood
25	chr1:185662800-185663000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr1:185662800-185663000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:185662800-185663000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr1:185662800-185663000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:185662800-185663000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr1:185662800-185663000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:185662800-185663000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:185662800-185663000	Enhancers	Duodenum Mucosa	Duodenum
33	chr1:185662800-185663000	Enhancers	Fetal Thymus	thymus
34	chr1:185662800-185663000	Enhancers	Pancreas	Pancrea
35	chr1:185662800-185663000	Enhancers	HepG2	liver
36	chr1:185662800-185663000	Enhancers	HUVEC	blood vessel
37	chr1:185662800-185663200	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr1:185662800-185663200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:185662800-185663200	Flanking Active TSS	Liver	Liver
40	chr1:185662800-185663200	Enhancers	Brain Anterior Caudate	brain
41	chr1:185662800-185663200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr1:185662800-185663400	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr1:185662800-185663400	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr1:185662800-185663600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:185662800-185663600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:185662800-185663600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr1:185662800-185663600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr1:185662800-185663600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:185662800-185663600	Active TSS	Right Atrium	heart
50	chr1:185662800-185663800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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