Variant report

Variant	nsv548666
Chromosome Location	chr1:194251821-194308202
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:25)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:194307530..194310929-chr1:194324369..194327548,3	K562	blood:
2	chr1:194286927..194289015-chr1:194296923..194299296,2	K562	blood:
3	chr1:193151512..193152776-chr1:194264703..194265563,3	MCF-7	breast:
4	chr1:194272409..194275339-chr1:194275984..194279040,4	K562	blood:
5	chr1:194071422..194072384-chr1:194264231..194265518,7	MCF-7	breast:
6	chr1:194266672..194269041-chr1:194271611..194273227,2	K562	blood:
7	chr1:194286927..194289015-chr1:194296923..194299296,2	K562	blood:
8	chr1:194259902..194262813-chr1:194263543..194265808,3	K562	blood:
9	chr1:194277312..194279906-chr1:194286603..194288414,2	K562	blood:
10	chr1:194256252..194258027-chr1:194260432..194262987,2	K562	blood:
11	chr1:193576702..193577442-chr1:194264619..194265502,2	MCF-7	breast:
12	chr1:194259902..194262813-chr1:194263543..194265808,3	K562	blood:
13	chr1:194290793..194293350-chr1:194303671..194305841,2	K562	blood:
14	chr1:194256252..194258027-chr1:194260432..194262987,2	K562	blood:
15	chr1:194266672..194269041-chr1:194271611..194273227,2	K562	blood:
16	chr1:194249167..194252027-chr1:194255378..194258049,2	MCF-7	breast:
17	chr1:194128824..194129656-chr1:194264555..194265184,3	MCF-7	breast:
18	chr1:194072910..194073570-chr1:194264512..194265049,2	MCF-7	breast:
19	chr1:193375639..193376499-chr1:194264953..194265474,2	MCF-7	breast:
20	chr1:194306516..194309030-chr1:194325392..194327548,2	K562	blood:
21	chr1:194290793..194293350-chr1:194303671..194305841,2	K562	blood:
22	chr1:194277312..194279906-chr1:194286603..194288414,2	K562	blood:
23	chr1:194249167..194252027-chr1:194255378..194258049,2	MCF-7	breast:
24	chr1:194128967..194129865-chr1:194264643..194265551,3	MCF-7	breast:
25	chr1:194272409..194275339-chr1:194275984..194279040,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-B3GALT2-5	chr1:194296750-194296826	NONHSAT008580
2	lnc-B3GALT2-5	chr1:194280749-194281292	NONHSAT008580

No data

Extended variants
information (count: 707 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:707 , 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	rs12084585	chr1:194251821-194251822	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576495615	chr1:194251858-194251859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140328635	chr1:194251901-194251902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577456544	chr1:194251906-194251907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs151335138	chr1:194251913-194251914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563348820	chr1:194251921-194251922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144163359	chr1:194251993-194251994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12752237	chr1:194251995-194251996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553321971	chr1:194252012-194252013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574960498	chr1:194252023-194252024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147962214	chr1:194252037-194252038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142922518	chr1:194252083-194252084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542024255	chr1:194252128-194252129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112345663	chr1:194252130-194252131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12752219	chr1:194252139-194252140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552263293	chr1:194252186-194252187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570877400	chr1:194252188-194252189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528555988	chr1:194252250-194252251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78324981	chr1:194252273-194252274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77129533	chr1:194252331-194252332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535702728	chr1:194252347-194252348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551231427	chr1:194252350-194252351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74131472	chr1:194252355-194252356	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs528199857	chr1:194252374-194252375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34591089	chr1:194252384-194252385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540307753	chr1:194252433-194252434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74131475	chr1:194252450-194252451	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs74229765	chr1:194252498-194252499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373833839	chr1:194252507-194252508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542485598	chr1:194252513-194252514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559307868	chr1:194252524-194252525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372738763	chr1:194252527-194252528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555942433	chr1:194252528-194252529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77141240	chr1:194252535-194252536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552691928	chr1:194252558-194252559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs302226	chr1:194252559-194252560	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs183174312	chr1:194252577-194252578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563520541	chr1:194252593-194252594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575417452	chr1:194252604-194252605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187139790	chr1:194252618-194252619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111774485	chr1:194252619-194252620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528533520	chr1:194252625-194252626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12087095	chr1:194252627-194252628	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs562189283	chr1:194252640-194252641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12060082	chr1:194252659-194252660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs533195348	chr1:194252660-194252661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377359884	chr1:194252708-194252709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs386638116	chr1:194252711-194252712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372071270	chr1:194252712-194252713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368599153	chr1:194252714-194252715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194250800-194255000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:194251200-194256800	Weak transcription	Primary T cells from cord blood	blood
3	chr1:194255000-194255200	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr1:194255000-194255400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:194255000-194255400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:194255400-194256400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:194255400-194258600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:194256400-194256600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:194256400-194257400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr1:194256400-194257400	Enhancers	Fetal Thymus	thymus
11	chr1:194256600-194258600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:194256800-194257000	Enhancers	Primary T cells from cord blood	blood
13	chr1:194256800-194258600	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr1:194256800-194259000	Active TSS	Thymus	Thymus
15	chr1:194257000-194257800	Weak transcription	Primary T cells from cord blood	blood
16	chr1:194257200-194258800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:194257400-194257600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:194257400-194258000	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr1:194257400-194258200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr1:194257400-194258800	Active TSS	Fetal Thymus	thymus
21	chr1:194257600-194258600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:194257800-194258000	Bivalent Enhancer	Primary B cells from cord blood	blood
23	chr1:194257800-194258000	Enhancers	Primary T cells from cord blood	blood
24	chr1:194257800-194258000	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr1:194257800-194258000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:194257800-194258200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr1:194258000-194258200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr1:194258000-194258600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:194258000-194258600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr1:194258000-194259000	Active TSS	Primary T cells fromperipheralblood	blood
31	chr1:194258000-194259000	Active TSS	Duodenum Mucosa	Duodenum
32	chr1:194258000-194259200	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr1:194258000-194260200	Enhancers	Primary B cells from cord blood	blood
34	chr1:194258200-194258400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr1:194258200-194258600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr1:194258200-194258600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr1:194258400-194258600	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr1:194258400-194259000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr1:194258400-194259200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:194258400-194259400	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr1:194258400-194260600	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr1:194258600-194258800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr1:194258600-194258800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr1:194258600-194259000	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr1:194258600-194259000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr1:194258600-194259000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:194258600-194259000	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr1:194258600-194259200	Enhancers	H1 Cell Line	embryonic stem cell
49	chr1:194258600-194259200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr1:194258600-194259200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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