Variant report

Variant	esv35094
Chromosome Location	chr1:195874343-196020343
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:61)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:195908909..195909846-chr1:196117249..196118180,3	MCF-7	breast:
2	chr1:195922958..195925594-chr1:195930785..195932321,2	K562	blood:
3	chr1:196001222..196002860-chr1:196004252..196007155,2	K562	blood:
4	chr1:195986781..195988746-chr1:195990099..195991886,2	K562	blood:
5	chr1:195908660..195909465-chr11:60896948..60897811,2	MCF-7	breast:
6	chr1:195950441..195952834-chr1:195961888..195963908,2	K562	blood:
7	chr1:195901067..195904510-chr1:195904867..195907944,3	K562	blood:
8	chr1:195947665..195949248-chr1:195952438..195954164,2	K562	blood:
9	chr1:195880791..195883769-chr1:195888416..195890457,2	MCF-7	breast:
10	chr1:195986781..195988746-chr1:195990099..195991886,2	K562	blood:
11	chr1:195901511..195904134-chr1:195919698..195921309,2	K562	blood:
12	chr1:195935419..195938367-chr1:195956376..195957962,2	K562	blood:
13	chr1:195946889..195949248-chr1:195951853..195953938,2	K562	blood:
14	chr1:195930176..195932794-chr1:195935664..195937218,2	K562	blood:
15	chr1:195947665..195949248-chr1:195952438..195954164,2	K562	blood:
16	chr1:195975438..195979095-chr1:195981276..195984645,3	K562	blood:
17	chr1:195873239..195874768-chr1:195881768..195884763,2	MCF-7	breast:
18	chr1:195871895..195874613-chr1:195874737..195876841,2	K562	blood:
19	chr1:195901511..195904134-chr1:195919698..195921309,2	K562	blood:
20	chr1:195890973..195893135-chr1:195899098..195901610,2	K562	blood:
21	chr1:195908822..195909639-chr1:195998328..195999154,5	MCF-7	breast:
22	chr1:195941539..195944213-chr1:195949780..195952268,2	K562	blood:
23	chr1:195960940..195963536-chr1:195979174..195981179,2	K562	blood:
24	chr1:195960940..195963536-chr1:195979174..195981179,2	K562	blood:
25	chr1:195900460..195904053-chr1:195910275..195914272,3	K562	blood:
26	chr1:195908049..195910534-chr1:195911759..195915104,3	K562	blood:
27	chr1:195891817..195893332-chr1:196109903..196112041,2	K562	blood:
28	chr1:195935419..195938367-chr1:195956376..195957962,2	K562	blood:
29	chr1:195908986..195909573-chr1:196113721..196114467,3	MCF-7	breast:
30	chr1:195933946..195935756-chr1:195940527..195943521,2	K562	blood:
31	chr1:195902143..195904791-chr1:195905096..195906863,2	K562	blood:
32	chr1:195993999..195996870-chr1:195997208..196000349,3	K562	blood:
33	chr1:195833669..195835807-chr1:195874591..195877128,2	K562	blood:
34	chr1:195908049..195910534-chr1:195911759..195915104,3	K562	blood:
35	chr1:195900460..195904053-chr1:195910275..195914272,3	K562	blood:
36	chr1:195953922..195957101-chr1:195959349..195962139,3	K562	blood:
37	chr1:193362912..193364895-chr1:195930412..195933099,2	K562	blood:
38	chr1:195946889..195949248-chr1:195951853..195953938,2	K562	blood:
39	chr1:195953922..195957101-chr1:195959349..195962139,3	K562	blood:
40	chr1:195993999..195996870-chr1:195997208..196000349,3	K562	blood:
41	chr1:195930176..195932794-chr1:195935664..195937218,2	K562	blood:
42	chr1:195954938..195957101-chr1:195959563..195962139,2	K562	blood:
43	chr1:195933946..195935756-chr1:195940527..195943521,2	K562	blood:
44	chr1:195908822..195909639-chr1:195998328..195999154,5	MCF-7	breast:
45	chr1:195901067..195904510-chr1:195904867..195907944,3	K562	blood:
46	chr1:195950441..195952834-chr1:195961888..195963908,2	K562	blood:
47	chr1:195902143..195904791-chr1:195905096..195906863,2	K562	blood:
48	chr1:195833265..195836261-chr1:195994257..195997150,2	K562	blood:
49	chr1:195890973..195893135-chr1:195899098..195901610,2	K562	blood:
50	chr1:195975438..195979095-chr1:195981276..195984645,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNT2-1	chr1:196014057-196014669	XLOC_001138
2	lnc-KCNT2-1	chr1:196014126-196014669	XLOC_001138

No data

Variant related genes	Relation type
SDF2	miRNA target sites

Extended variants
information (count: 2465 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:2465 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547856956	chr1:195874382-195874383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs3008573	chr1:195874388-195874389	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs543924284	chr1:195874399-195874400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559055332	chr1:195874400-195874401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536638598	chr1:195874409-195874410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577740565	chr1:195874416-195874417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545221626	chr1:195874439-195874440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560112692	chr1:195874463-195874464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112529298	chr1:195874511-195874512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs180922995	chr1:195874523-195874524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34683805	chr1:195874581-195874582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560537456	chr1:195874615-195874616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184495676	chr1:195874634-195874635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139345533	chr1:195874696-195874697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77541399	chr1:195874708-195874709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571355399	chr1:195874751-195874752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532125281	chr1:195874752-195874753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1451920	chr1:195874790-195874791	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs2123080	chr1:195874856-195874857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs189377205	chr1:195874870-195874871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534891178	chr1:195874885-195874886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548937521	chr1:195874890-195874891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2167518	chr1:195874907-195874908	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs566117174	chr1:195874928-195874929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150014309	chr1:195874932-195874933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558157058	chr1:195875004-195875005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144279056	chr1:195875006-195875007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200150525	chr1:195875053-195875054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs5779820	chr1:195875054-195875055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs398074541	chr1:195875062-195875063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577242232	chr1:195875066-195875067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534811229	chr1:195875093-195875094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561366804	chr1:195875111-195875112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140047363	chr1:195875140-195875141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372650343	chr1:195875141-195875142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565536732	chr1:195875153-195875154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576651320	chr1:195875204-195875205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143574800	chr1:195875247-195875248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146773842	chr1:195875249-195875250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560879961	chr1:195875279-195875280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376647469	chr1:195875331-195875332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200735850	chr1:195875483-195875484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543564140	chr1:195875558-195875559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575619356	chr1:195875588-195875589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375940031	chr1:195875592-195875593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565238661	chr1:195875596-195875597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34645541	chr1:195875605-195875606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564747996	chr1:195875620-195875621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182340830	chr1:195875655-195875656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370084316	chr1:195875698-195875699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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	21364760	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:194 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195871000-195876800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:195872400-195876800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:195876600-195876800	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr1:195876800-195877000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:195876800-195877000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:195876800-195877400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr1:195876800-195878000	Enhancers	Primary hematopoietic stem cells	blood
8	chr1:195876800-195878000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr1:195876800-195878400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:195876800-195878400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:195876800-195878400	Enhancers	NHEK	skin
12	chr1:195876800-195878600	Enhancers	HMEC	breast
13	chr1:195877000-195877400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:195877000-195877400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:195877000-195877600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:195877000-195877800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr1:195877000-195878600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:195877400-195877600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:195877400-195878800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:195877400-195878800	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr1:195877600-195878400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:195877600-195878400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:195877600-195878600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:195878000-195885000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:195878600-195891400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:195885000-195885200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
27	chr1:195903800-195904200	Enhancers	Fetal Lung	lung
28	chr1:195904200-195904600	Active TSS	Fetal Lung	lung
29	chr1:195904400-195904800	Enhancers	Fetal Brain Female	brain
30	chr1:195908600-195909600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr1:195908800-195909400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr1:195908800-195909600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr1:195908800-195909600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr1:195908800-195909800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr1:195909000-195909400	Enhancers	Gastric	stomach
36	chr1:195909000-195909600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr1:195909200-195909400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:195909200-195910400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:195909200-195910400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:195909200-195910400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr1:195909400-195910200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:195909400-195910600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr1:195909600-195910800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr1:195909600-195910800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:195910200-195910600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:195910400-195911000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:195910600-195910800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:195910800-195911200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:195911000-195911200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr1:195911000-195911200	Enhancers	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links