Variant report

Variant	nsv467127
Chromosome Location	chr1:194772457-194961172
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:77)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:77 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:194796974..194798913-chr1:194802192..194803906,2	K562	blood:
2	chr1:194812845..194814562-chr1:194816106..194820089,3	K562	blood:
3	chr1:194821182..194823850-chr1:194829080..194831721,3	K562	blood:
4	chr1:194883565..194884392-chr3:64008754..64009520,2	MCF-7	breast:
5	chr1:194828161..194830598-chr1:194840247..194842578,2	K562	blood:
6	chr1:194775652..194778419-chr1:194781583..194783749,2	K562	blood:
7	chr1:194810751..194812791-chr1:194825406..194827084,2	K562	blood:
8	chr1:194830894..194836206-chr1:194840671..194844167,5	K562	blood:
9	chr1:194813574..194815333-chr1:194827926..194830696,3	K562	blood:
10	chr1:194833686..194836577-chr1:194840293..194843252,2	K562	blood:
11	chr1:194803086..194804803-chr1:194807093..194810112,3	K562	blood:
12	chr1:194808418..194813553-chr1:194816550..194820694,5	K562	blood:
13	chr1:194894090..194896590-chr1:194908541..194910307,2	MCF-7	breast:
14	chr1:194816153..194817799-chr1:194825440..194827833,2	K562	blood:
15	chr1:194828434..194829987-chr1:194856393..194858664,2	K562	blood:
16	chr1:194810751..194812791-chr1:194825406..194827084,2	K562	blood:
17	chr1:194820017..194822446-chr1:194943208..194945267,2	K562	blood:
18	chr1:194811883..194813573-chr1:194831877..194834030,2	K562	blood:
19	chr1:194827292..194830199-chr1:194885354..194888376,3	K562	blood:
20	chr1:194927782..194929413-chr1:194932247..194935027,2	MCF-7	breast:
21	chr1:194786889..194788566-chr1:194794370..194797168,2	MCF-7	breast:
22	chr1:194821076..194822718-chr1:194827605..194831721,4	K562	blood:
23	chr1:194812847..194815308-chr1:194828726..194830936,3	K562	blood:
24	chr1:192862078..192864210-chr1:194807394..194809070,2	K562	blood:
25	chr1:194808418..194813553-chr1:194816550..194820694,5	K562	blood:
26	chr1:194803086..194804803-chr1:194807093..194810112,3	K562	blood:
27	chr1:194864008..194866177-chr1:194870859..194873394,2	K562	blood:
28	chr1:194796974..194798913-chr1:194802192..194803906,2	K562	blood:
29	chr1:194833686..194836577-chr1:194840293..194843252,2	K562	blood:
30	chr1:194827292..194830199-chr1:194885354..194888376,3	K562	blood:
31	chr1:194821182..194823850-chr1:194829080..194831721,3	K562	blood:
32	chr1:194614011..194616413-chr1:194837683..194840680,2	K562	blood:
33	chr1:194782064..194783617-chr1:194823209..194825644,2	K562	blood:
34	chr1:194821076..194822718-chr1:194827605..194831721,4	K562	blood:
35	chr1:194820017..194822446-chr1:194943208..194945267,2	K562	blood:
36	chr1:194765896..194768506-chr1:194770244..194772765,3	K562	blood:
37	chr1:194827832..194830563-chr1:195590853..195593142,2	K562	blood:
38	chr1:194782064..194783617-chr1:194823209..194825644,2	K562	blood:
39	chr1:194812847..194815308-chr1:194828726..194830936,3	K562	blood:
40	chr1:194625855..194628671-chr1:194827046..194829972,3	K562	blood:
41	chr1:194804501..194806498-chr1:194816896..194818919,2	K562	blood:
42	chr1:194808956..194810740-chr1:194810823..194813359,2	K562	blood:
43	chr1:194812845..194814562-chr1:194816106..194820089,3	K562	blood:
44	chr1:194819060..194821727-chr1:194842540..194844189,2	K562	blood:
45	chr1:194811883..194813573-chr1:194831877..194834030,2	K562	blood:
46	chr1:194813574..194815333-chr1:194827926..194830696,3	K562	blood:
47	chr1:194819540..194821176-chr1:194824149..194827039,2	K562	blood:
48	chr1:194755852..194758022-chr1:194772512..194774166,2	K562	blood:
49	chr1:194715893..194719551-chr1:194826480..194829868,3	K562	blood:
50	chr1:194565462..194567193-chr1:194826327..194828767,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000023572	chromatin interactions
ENSG00000163636	chromatin interactions

Extended variants
information (count: 3084 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:3084 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10754115	chr1:194772457-194772458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs547209666	chr1:194772484-194772485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143903121	chr1:194772510-194772511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144144814	chr1:194772553-194772554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535897204	chr1:194772580-194772581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10754116	chr1:194772616-194772617	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs569477051	chr1:194772650-194772651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148679941	chr1:194772680-194772681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558791710	chr1:194772686-194772687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577200448	chr1:194772707-194772708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375950031	chr1:194772719-194772720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143393309	chr1:194772763-194772764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148475159	chr1:194772773-194772774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553554823	chr1:194772782-194772783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186317364	chr1:194772801-194772802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574991641	chr1:194772818-194772819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75090264	chr1:194772841-194772842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563890340	chr1:194772878-194772879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199571430	chr1:194772886-194772887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs59521077	chr1:194772887-194772888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574964466	chr1:194772888-194772889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542190520	chr1:194772889-194772890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs398049931	chr1:194772907-194772908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550607294	chr1:194772928-194772929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527574077	chr1:194772960-194772961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548891277	chr1:194773034-194773035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575880576	chr1:194773072-194773073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191280255	chr1:194773097-194773098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4657788	chr1:194773114-194773115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs146251460	chr1:194773147-194773148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182100444	chr1:194773148-194773149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558881409	chr1:194773169-194773170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139289882	chr1:194773170-194773171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547852576	chr1:194773193-194773194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569540996	chr1:194773244-194773245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530714330	chr1:194773260-194773261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144066391	chr1:194773274-194773275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537662435	chr1:194773304-194773305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557382505	chr1:194773309-194773310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112822824	chr1:194773312-194773313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190817028	chr1:194773343-194773344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79947395	chr1:194773345-194773346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568431944	chr1:194773350-194773351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150956892	chr1:194773357-194773358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374158962	chr1:194773400-194773401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569254984	chr1:194773407-194773408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557471122	chr1:194773462-194773463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377616606	chr1:194773497-194773498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546369432	chr1:194773518-194773519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558022102	chr1:194773519-194773520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD
Maculopathy	22022419	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194763000-194807600	Weak transcription	K562	blood
2	chr1:194776400-194777600	Enhancers	Primary B cells from peripheral blood	blood
3	chr1:194777000-194777600	Enhancers	GM12878-XiMat	blood
4	chr1:194779000-194779400	Enhancers	Fetal Lung	lung
5	chr1:194787000-194787200	Enhancers	Primary B cells from peripheral blood	blood
6	chr1:194787800-194788000	Enhancers	Primary B cells from peripheral blood	blood
7	chr1:194798200-194799400	Enhancers	Primary B cells from cord blood	blood
8	chr1:194798200-194801600	Enhancers	Primary B cells from peripheral blood	blood
9	chr1:194798800-194799200	Enhancers	GM12878-XiMat	blood
10	chr1:194799200-194799800	Active TSS	GM12878-XiMat	blood
11	chr1:194799400-194800000	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr1:194799800-194800000	Flanking Active TSS	GM12878-XiMat	blood
13	chr1:194800000-194800400	Enhancers	GM12878-XiMat	blood
14	chr1:194800000-194800800	Enhancers	Primary B cells from cord blood	blood
15	chr1:194802200-194802800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:194802200-194803400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:194807600-194807800	Strong transcription	K562	blood
18	chr1:194807800-194808000	ZNF genes & repeats	K562	blood
19	chr1:194808000-194825600	Weak transcription	K562	blood
20	chr1:194824400-194825800	Weak transcription	Right Atrium	heart
21	chr1:194825600-194831000	Active TSS	K562	blood
22	chr1:194825800-194826000	ZNF genes & repeats	Right Atrium	heart
23	chr1:194826000-194829200	Weak transcription	Right Atrium	heart
24	chr1:194839800-194840800	Enhancers	Primary B cells from peripheral blood	blood
25	chr1:194842200-194842800	Enhancers	K562	blood
26	chr1:194852400-194852600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:194852800-194858400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:194858400-194858800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:194858400-194858800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:194858400-194858800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:194858400-194858800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:194858400-194858800	ZNF genes & repeats	Gastric	stomach
33	chr1:194858400-194858800	ZNF genes & repeats	Right Atrium	heart
34	chr1:194858800-194859400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:194858800-194860800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:194860800-194861000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr1:194886600-194887200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:194886800-194887200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:194887200-194888200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:194887200-194888200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:194888000-194888800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr1:194888200-194888600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:194888200-194888800	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr1:194888400-194888600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:194888400-194888800	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr1:194898400-194899400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:194899400-194900200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:194900200-194900400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:194908600-194910800	Enhancers	Fetal Brain Male	brain
50	chr1:194908800-194910000	Enhancers	Fetal Brain Female	brain

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