Variant report

Variant	nsv872887
Chromosome Location	chr1:194819196-194924039
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:44)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:194883565..194884392-chr3:64008754..64009520,2	MCF-7	breast:
2	chr1:194819540..194821176-chr1:194824149..194827039,2	K562	blood:
3	chr1:194819060..194821727-chr1:194842540..194844189,2	K562	blood:
4	chr1:194828434..194829987-chr1:194856393..194858664,2	K562	blood:
5	chr1:194830443..194832725-chr1:194885679..194888143,2	K562	blood:
6	chr1:194894090..194896590-chr1:194908541..194910307,2	MCF-7	breast:
7	chr1:194614011..194616413-chr1:194837683..194840680,2	K562	blood:
8	chr1:194864008..194866177-chr1:194870859..194873394,2	K562	blood:
9	chr1:194828434..194829987-chr1:194856393..194858664,2	K562	blood:
10	chr1:194827832..194830563-chr1:195590853..195593142,2	K562	blood:
11	chr1:194830443..194832725-chr1:194885679..194888143,2	K562	blood:
12	chr1:194816153..194817799-chr1:194825440..194827833,2	K562	blood:
13	chr1:194830894..194836206-chr1:194840671..194844167,5	K562	blood:
14	chr1:194827292..194830199-chr1:194885354..194888376,3	K562	blood:
15	chr1:194812847..194815308-chr1:194828726..194830936,3	K562	blood:
16	chr1:193074740..193076567-chr1:194827728..194830182,2	K562	blood:
17	chr1:194626043..194628671-chr1:194827977..194829972,2	K562	blood:
18	chr1:194833686..194836577-chr1:194840293..194843252,2	K562	blood:
19	chr1:194808418..194813553-chr1:194816550..194820694,5	K562	blood:
20	chr1:194821182..194823850-chr1:194829080..194831721,3	K562	blood:
21	chr1:194715893..194719551-chr1:194826480..194829868,3	K562	blood:
22	chr1:194821076..194822718-chr1:194827605..194831721,4	K562	blood:
23	chr1:194830894..194836206-chr1:194840671..194844167,5	K562	blood:
24	chr1:194813574..194815333-chr1:194827926..194830696,3	K562	blood:
25	chr1:194864008..194866177-chr1:194870859..194873394,2	K562	blood:
26	chr1:194820017..194822446-chr1:194943208..194945267,2	K562	blood:
27	chr1:194819060..194821727-chr1:194842540..194844189,2	K562	blood:
28	chr1:194894090..194896590-chr1:194908541..194910307,2	MCF-7	breast:
29	chr1:194839665..194841497-chr1:194856335..194858376,2	K562	blood:
30	chr1:194810751..194812791-chr1:194825406..194827084,2	K562	blood:
31	chr1:194810607..194812791-chr1:194825406..194826910,2	K562	blood:
32	chr1:194819540..194821176-chr1:194824149..194827039,2	K562	blood:
33	chr1:194565462..194567193-chr1:194826327..194828767,2	K562	blood:
34	chr1:194782064..194783617-chr1:194823209..194825644,2	K562	blood:
35	chr1:194839665..194841497-chr1:194856335..194858376,2	K562	blood:
36	chr1:194833686..194836577-chr1:194840293..194843252,2	K562	blood:
37	chr1:194625855..194628671-chr1:194827046..194829972,3	K562	blood:
38	chr1:194828161..194830598-chr1:194840247..194842578,2	K562	blood:
39	chr1:194821182..194823850-chr1:194829080..194831721,3	K562	blood:
40	chr1:194812845..194814562-chr1:194816106..194820089,3	K562	blood:
41	chr1:194828161..194830598-chr1:194840247..194842578,2	K562	blood:
42	chr1:194827292..194830199-chr1:194885354..194888376,3	K562	blood:
43	chr1:194811883..194813573-chr1:194831877..194834030,2	K562	blood:
44	chr1:194821076..194822718-chr1:194827605..194831721,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000023572	chromatin interactions
ENSG00000163636	chromatin interactions

Extended variants
information (count: 1120 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1120 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs163401	chr1:194819196-194819197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs11806375	chr1:194819222-194819223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs533583725	chr1:194819242-194819243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560956233	chr1:194819255-194819256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573314709	chr1:194819280-194819281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540822932	chr1:194819281-194819282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529391470	chr1:194819307-194819308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556041264	chr1:194819360-194819361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550803792	chr1:194819370-194819371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574574876	chr1:194819422-194819423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541980664	chr1:194819438-194819439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563253038	chr1:194819461-194819462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182050576	chr1:194819482-194819483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545739353	chr1:194819544-194819545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12130373	chr1:194819553-194819554	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs528424801	chr1:194819591-194819592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551902103	chr1:194819601-194819602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546382142	chr1:194819604-194819605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186080465	chr1:194819639-194819640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529328171	chr1:194819683-194819684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111779918	chr1:194819688-194819689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377534698	chr1:194819690-194819691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533368937	chr1:194819709-194819710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs163400	chr1:194819721-194819722	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs567143762	chr1:194819733-194819734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539827145	chr1:194819744-194819745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76828729	chr1:194819770-194819771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12731094	chr1:194819785-194819786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs567082447	chr1:194819848-194819849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188880148	chr1:194819860-194819861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555979957	chr1:194819882-194819883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12752341	chr1:194819884-194819885	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs370970748	chr1:194819942-194819943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150376719	chr1:194820040-194820041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145046997	chr1:194820081-194820082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115745502	chr1:194820089-194820090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181625255	chr1:194820120-194820121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186206460	chr1:194820162-194820163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563968542	chr1:194820171-194820172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149089044	chr1:194820224-194820225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570145421	chr1:194820245-194820246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540166037	chr1:194820250-194820251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531274712	chr1:194820253-194820254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561520502	chr1:194820277-194820278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529066908	chr1:194820286-194820287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143118171	chr1:194820308-194820309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577169222	chr1:194820445-194820446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563001219	chr1:194820466-194820467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34937423	chr1:194820472-194820473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533314085	chr1:194820491-194820492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194808000-194825600	Weak transcription	K562	blood
2	chr1:194824400-194825800	Weak transcription	Right Atrium	heart
3	chr1:194825600-194831000	Active TSS	K562	blood
4	chr1:194825800-194826000	ZNF genes & repeats	Right Atrium	heart
5	chr1:194826000-194829200	Weak transcription	Right Atrium	heart
6	chr1:194839800-194840800	Enhancers	Primary B cells from peripheral blood	blood
7	chr1:194842200-194842800	Enhancers	K562	blood
8	chr1:194852400-194852600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:194852800-194858400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:194858400-194858800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:194858400-194858800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:194858400-194858800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:194858400-194858800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:194858400-194858800	ZNF genes & repeats	Gastric	stomach
15	chr1:194858400-194858800	ZNF genes & repeats	Right Atrium	heart
16	chr1:194858800-194859400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:194858800-194860800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:194860800-194861000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:194886600-194887200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:194886800-194887200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:194887200-194888200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:194887200-194888200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:194888000-194888800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr1:194888200-194888600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:194888200-194888800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr1:194888400-194888600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:194888400-194888800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr1:194898400-194899400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:194899400-194900200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:194900200-194900400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:194908600-194910800	Enhancers	Fetal Brain Male	brain
32	chr1:194908800-194910000	Enhancers	Fetal Brain Female	brain
33	chr1:194910000-194910400	Weak transcription	Fetal Brain Female	brain
34	chr1:194910400-194910800	Enhancers	Fetal Brain Female	brain
35	chr1:194921200-194921800	Enhancers	Brain Germinal Matrix	brain

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