Variant report

Variant	nsv872888
Chromosome Location	chr1:194839289-194938243
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:194864008..194866177-chr1:194870859..194873394,2	K562	blood:
2	chr1:194894090..194896590-chr1:194908541..194910307,2	MCF-7	breast:
3	chr1:194827292..194830199-chr1:194885354..194888376,3	K562	blood:
4	chr1:194828161..194830598-chr1:194840247..194842578,2	K562	blood:
5	chr1:194864008..194866177-chr1:194870859..194873394,2	K562	blood:
6	chr1:194819060..194821727-chr1:194842540..194844189,2	K562	blood:
7	chr1:194830894..194836206-chr1:194840671..194844167,5	K562	blood:
8	chr1:194833686..194836577-chr1:194840293..194843252,2	K562	blood:
9	chr1:194828434..194829987-chr1:194856393..194858664,2	K562	blood:
10	chr1:194839665..194841497-chr1:194856335..194858376,2	K562	blood:
11	chr1:194927782..194929413-chr1:194932247..194935027,2	MCF-7	breast:
12	chr1:194614011..194616413-chr1:194837683..194840680,2	K562	blood:
13	chr1:194894090..194896590-chr1:194908541..194910307,2	MCF-7	breast:
14	chr1:194927782..194929413-chr1:194932247..194935027,2	MCF-7	breast:
15	chr1:194839665..194841497-chr1:194856335..194858376,2	K562	blood:
16	chr1:194830443..194832725-chr1:194885679..194888143,2	K562	blood:
17	chr1:194883565..194884392-chr3:64008754..64009520,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163636	chromatin interactions

Extended variants
information (count: 719 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:719 , 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	rs560797215	chr1:194839848-194839849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533855470	chr1:194839854-194839855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377261585	chr1:194839858-194839859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550131131	chr1:194839870-194839871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114190196	chr1:194839908-194839909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528114027	chr1:194839965-194839966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182012852	chr1:194839980-194839981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551656552	chr1:194840028-194840029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2134679	chr1:194840036-194840037	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs533980736	chr1:194840109-194840110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12121570	chr1:194840166-194840167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184605573	chr1:194840186-194840187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567742274	chr1:194840192-194840193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538366864	chr1:194840230-194840231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556565160	chr1:194840280-194840281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs578079950	chr1:194840328-194840329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188625997	chr1:194840351-194840352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142311775	chr1:194840355-194840356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201882919	chr1:194840360-194840361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs180762414	chr1:194840367-194840368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572681711	chr1:194840371-194840372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543182694	chr1:194840374-194840375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs339622	chr1:194840389-194840390	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs139819323	chr1:194840429-194840430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543910739	chr1:194840488-194840489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200704698	chr1:194840502-194840503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149657756	chr1:194840529-194840530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373757610	chr1:194840638-194840639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532938158	chr1:194840665-194840666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551130999	chr1:194840681-194840682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560381226	chr1:194840683-194840684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527619620	chr1:194840689-194840690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185203626	chr1:194840752-194840753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145877655	chr1:194840780-194840781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538303719	chr1:194840786-194840787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs339623	chr1:194840791-194840792	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs190393962	chr1:194842202-194842203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532280448	chr1:194842209-194842210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553793610	chr1:194842227-194842228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139105950	chr1:194842252-194842253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115319530	chr1:194842259-194842260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182274385	chr1:194842279-194842280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143020473	chr1:194842284-194842285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565042539	chr1:194842290-194842291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186974210	chr1:194842315-194842316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34750018	chr1:194842370-194842371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372517238	chr1:194842379-194842380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572347273	chr1:194842421-194842422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78333641	chr1:194842422-194842423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143315959	chr1:194842439-194842440	Enhancers	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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194839800-194840800	Enhancers	Primary B cells from peripheral blood	blood
2	chr1:194842200-194842800	Enhancers	K562	blood
3	chr1:194852400-194852600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:194852800-194858400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:194858400-194858800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:194858400-194858800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:194858400-194858800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:194858400-194858800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:194858400-194858800	ZNF genes & repeats	Gastric	stomach
10	chr1:194858400-194858800	ZNF genes & repeats	Right Atrium	heart
11	chr1:194858800-194859400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:194858800-194860800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:194860800-194861000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:194886600-194887200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:194886800-194887200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:194887200-194888200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:194887200-194888200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:194888000-194888800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr1:194888200-194888600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:194888200-194888800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:194888400-194888600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:194888400-194888800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr1:194898400-194899400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:194899400-194900200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:194900200-194900400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:194908600-194910800	Enhancers	Fetal Brain Male	brain
27	chr1:194908800-194910000	Enhancers	Fetal Brain Female	brain
28	chr1:194910000-194910400	Weak transcription	Fetal Brain Female	brain
29	chr1:194910400-194910800	Enhancers	Fetal Brain Female	brain
30	chr1:194921200-194921800	Enhancers	Brain Germinal Matrix	brain
31	chr1:194934800-194936400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:194937400-194937800	Enhancers	Brain Germinal Matrix	brain

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