Variant report

Variant	nsv832204
Chromosome Location	chr1:194798569-194939320
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:64)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:64 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:194894090..194896590-chr1:194908541..194910307,2	MCF-7	breast:
2	chr1:194796974..194798913-chr1:194802192..194803906,2	K562	blood:
3	chr1:194894090..194896590-chr1:194908541..194910307,2	MCF-7	breast:
4	chr1:194626043..194628671-chr1:194827977..194829972,2	K562	blood:
5	chr1:194833686..194836577-chr1:194840293..194843252,2	K562	blood:
6	chr1:194808956..194810740-chr1:194810823..194813359,2	K562	blood:
7	chr1:194821076..194822718-chr1:194827605..194831721,4	K562	blood:
8	chr1:194804501..194806498-chr1:194816896..194818919,2	K562	blood:
9	chr1:194821182..194823850-chr1:194829080..194831721,3	K562	blood:
10	chr1:194715893..194719551-chr1:194826480..194829868,3	K562	blood:
11	chr1:194828161..194830598-chr1:194840247..194842578,2	K562	blood:
12	chr1:194625855..194628671-chr1:194827046..194829972,3	K562	blood:
13	chr1:194839665..194841497-chr1:194856335..194858376,2	K562	blood:
14	chr1:194804501..194806498-chr1:194816896..194818919,2	K562	blood:
15	chr1:194827292..194830199-chr1:194885354..194888376,3	K562	blood:
16	chr1:194811883..194813573-chr1:194831877..194834030,2	K562	blood:
17	chr1:194819060..194821727-chr1:194842540..194844189,2	K562	blood:
18	chr1:194812845..194814562-chr1:194816106..194820089,3	K562	blood:
19	chr1:194796974..194798913-chr1:194802192..194803906,2	K562	blood:
20	chr1:194614011..194616413-chr1:194837683..194840680,2	K562	blood:
21	chr1:194827292..194830199-chr1:194885354..194888376,3	K562	blood:
22	chr1:194828161..194830598-chr1:194840247..194842578,2	K562	blood:
23	chr1:194810751..194812791-chr1:194825406..194827084,2	K562	blood:
24	chr1:194808418..194813553-chr1:194816550..194820694,5	K562	blood:
25	chr1:194821076..194822718-chr1:194827605..194831721,4	K562	blood:
26	chr1:194782064..194783617-chr1:194823209..194825644,2	K562	blood:
27	chr1:194803086..194804803-chr1:194807093..194810112,3	K562	blood:
28	chr1:194810607..194812791-chr1:194825406..194826910,2	K562	blood:
29	chr1:194883565..194884392-chr3:64008754..64009520,2	MCF-7	breast:
30	chr1:193074740..193076567-chr1:194827728..194830182,2	K562	blood:
31	chr1:194830894..194836206-chr1:194840671..194844167,5	K562	blood:
32	chr1:194812847..194815308-chr1:194828726..194830936,3	K562	blood:
33	chr1:192862078..192864210-chr1:194807394..194809070,2	K562	blood:
34	chr1:194927782..194929413-chr1:194932247..194935027,2	MCF-7	breast:
35	chr1:194803086..194804803-chr1:194807093..194810112,3	K562	blood:
36	chr1:194820017..194822446-chr1:194943208..194945267,2	K562	blood:
37	chr1:194819540..194821176-chr1:194824149..194827039,2	K562	blood:
38	chr1:194816153..194817799-chr1:194825440..194827833,2	K562	blood:
39	chr1:194812847..194815308-chr1:194828726..194830936,3	K562	blood:
40	chr1:194927782..194929413-chr1:194932247..194935027,2	MCF-7	breast:
41	chr1:194812845..194814562-chr1:194816106..194820089,3	K562	blood:
42	chr1:194813574..194815333-chr1:194827926..194830696,3	K562	blood:
43	chr1:194808418..194813553-chr1:194816550..194820694,5	K562	blood:
44	chr1:194565462..194567193-chr1:194826327..194828767,2	K562	blood:
45	chr1:194830443..194832725-chr1:194885679..194888143,2	K562	blood:
46	chr1:194813574..194815333-chr1:194827926..194830696,3	K562	blood:
47	chr1:194811883..194813573-chr1:194831877..194834030,2	K562	blood:
48	chr1:194816153..194817799-chr1:194825440..194827833,2	K562	blood:
49	chr1:194810751..194812791-chr1:194825406..194827084,2	K562	blood:
50	chr1:194828434..194829987-chr1:194856393..194858664,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000023572	chromatin interactions
ENSG00000163636	chromatin interactions

Extended variants
information (count: 2061 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:2061 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183057315	chr1:194798591-194798592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187071971	chr1:194798592-194798593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546794377	chr1:194798620-194798621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs60608693	chr1:194798621-194798622	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs372396884	chr1:194798677-194798678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535932736	chr1:194798710-194798711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7528590	chr1:194798728-194798729	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs575925434	chr1:194798746-194798747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537070011	chr1:194798771-194798772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75981606	chr1:194798823-194798824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs56155416	chr1:194798853-194798854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558535415	chr1:194798859-194798860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190365768	chr1:194798867-194798868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534475125	chr1:194798969-194798970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182247181	chr1:194798986-194798987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559581099	chr1:194799031-194799032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142589760	chr1:194799110-194799111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188034411	chr1:194799116-194799117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572589326	chr1:194799130-194799131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563795519	chr1:194799138-194799139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34660060	chr1:194799186-194799187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150944475	chr1:194799246-194799247	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112643050	chr1:194799313-194799314	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1114747	chr1:194799330-194799331	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs543186904	chr1:194799350-194799351	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552551409	chr1:194799355-194799356	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193095033	chr1:194799369-194799370	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369214601	chr1:194799389-194799390	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528779049	chr1:194799395-194799396	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs80144998	chr1:194799421-194799422	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79505305	chr1:194799431-194799432	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535680510	chr1:194799446-194799447	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185502711	chr1:194799448-194799449	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79414986	chr1:194799465-194799466	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536599247	chr1:194799468-194799469	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558524521	chr1:194799549-194799550	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188814929	chr1:194799621-194799622	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191944542	chr1:194799671-194799672	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534902632	chr1:194799678-194799679	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184411692	chr1:194799694-194799695	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140808578	chr1:194799718-194799719	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144575801	chr1:194799723-194799724	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555941424	chr1:194799750-194799751	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188456675	chr1:194799757-194799758	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73056484	chr1:194799847-194799848	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs575697002	chr1:194799849-194799850	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546027677	chr1:194799865-194799866	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564495975	chr1:194799868-194799869	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544735140	chr1:194799870-194799871	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181304753	chr1:194799880-194799881	Flanking Active TSS Enhancers 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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194763000-194807600	Weak transcription	K562	blood
2	chr1:194798200-194799400	Enhancers	Primary B cells from cord blood	blood
3	chr1:194798200-194801600	Enhancers	Primary B cells from peripheral blood	blood
4	chr1:194798800-194799200	Enhancers	GM12878-XiMat	blood
5	chr1:194799200-194799800	Active TSS	GM12878-XiMat	blood
6	chr1:194799400-194800000	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr1:194799800-194800000	Flanking Active TSS	GM12878-XiMat	blood
8	chr1:194800000-194800400	Enhancers	GM12878-XiMat	blood
9	chr1:194800000-194800800	Enhancers	Primary B cells from cord blood	blood
10	chr1:194802200-194802800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:194802200-194803400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:194807600-194807800	Strong transcription	K562	blood
13	chr1:194807800-194808000	ZNF genes & repeats	K562	blood
14	chr1:194808000-194825600	Weak transcription	K562	blood
15	chr1:194824400-194825800	Weak transcription	Right Atrium	heart
16	chr1:194825600-194831000	Active TSS	K562	blood
17	chr1:194825800-194826000	ZNF genes & repeats	Right Atrium	heart
18	chr1:194826000-194829200	Weak transcription	Right Atrium	heart
19	chr1:194839800-194840800	Enhancers	Primary B cells from peripheral blood	blood
20	chr1:194842200-194842800	Enhancers	K562	blood
21	chr1:194852400-194852600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:194852800-194858400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:194858400-194858800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:194858400-194858800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:194858400-194858800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:194858400-194858800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:194858400-194858800	ZNF genes & repeats	Gastric	stomach
28	chr1:194858400-194858800	ZNF genes & repeats	Right Atrium	heart
29	chr1:194858800-194859400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:194858800-194860800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:194860800-194861000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:194886600-194887200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:194886800-194887200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:194887200-194888200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:194887200-194888200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:194888000-194888800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr1:194888200-194888600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:194888200-194888800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr1:194888400-194888600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:194888400-194888800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr1:194898400-194899400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:194899400-194900200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:194900200-194900400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:194908600-194910800	Enhancers	Fetal Brain Male	brain
45	chr1:194908800-194910000	Enhancers	Fetal Brain Female	brain
46	chr1:194910000-194910400	Weak transcription	Fetal Brain Female	brain
47	chr1:194910400-194910800	Enhancers	Fetal Brain Female	brain
48	chr1:194921200-194921800	Enhancers	Brain Germinal Matrix	brain
49	chr1:194934800-194936400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:194937400-194937800	Enhancers	Brain Germinal Matrix	brain

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