Variant report

Variant	esv2756364
Chromosome Location	chr1:195818443-196020535
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:103)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:103 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr1:195833265..195836261-chr1:195994257..195997150,2	K562	blood:
2	chr1:196001222..196002860-chr1:196004252..196007155,2	K562	blood:
3	chr1:195890973..195893135-chr1:195899098..195901610,2	K562	blood:
4	chr1:195901511..195904134-chr1:195919698..195921309,2	K562	blood:
5	chr1:195975438..195979095-chr1:195981276..195984645,3	K562	blood:
6	chr1:195902143..195904791-chr1:195905096..195906863,2	K562	blood:
7	chr1:195833404..195836340-chr1:195839707..195841267,2	K562	blood:
8	chr1:195954938..195957101-chr1:195959563..195962139,2	K562	blood:
9	chr1:195845594..195848428-chr1:195851192..195853399,2	K562	blood:
10	chr1:195793131..195796113-chr1:195827514..195829536,2	K562	blood:
11	chr1:195830037..195831904-chr1:195832068..195835892,3	K562	blood:
12	chr1:195845835..195848328-chr1:195860583..195862092,2	K562	blood:
13	chr1:195930176..195932794-chr1:195935664..195937218,2	K562	blood:
14	chr1:195986781..195988746-chr1:195990099..195991886,2	K562	blood:
15	chr1:195827750..195829795-chr1:195832219..195835214,2	K562	blood:
16	chr1:195873239..195874768-chr1:195881768..195884763,2	MCF-7	breast:
17	chr1:195845835..195848707-chr1:195860208..195862083,2	K562	blood:
18	chr1:195908810..195909713-chr1:195998289..195999101,3	MCF-7	breast:
19	chr1:195908810..195909713-chr1:195998289..195999101,3	MCF-7	breast:
20	chr1:195880791..195883769-chr1:195888416..195890457,2	MCF-7	breast:
21	chr1:195851101..195853777-chr1:195856895..195858997,3	K562	blood:
22	chr1:195854670..195856185-chr1:195857598..195860308,2	K562	blood:
23	chr1:195930176..195932794-chr1:195935664..195937218,2	K562	blood:
24	chr1:195908909..195909846-chr1:196117249..196118180,3	MCF-7	breast:
25	chr1:195922958..195925594-chr1:195930785..195932321,2	K562	blood:
26	chr1:195831209..195836948-chr1:195865315..195869441,6	K562	blood:
27	chr1:195947665..195949248-chr1:195952438..195954164,2	K562	blood:
28	chr1:195902143..195904791-chr1:195905096..195906863,2	K562	blood:
29	chr1:195935419..195938367-chr1:195956376..195957962,2	K562	blood:
30	chr1:195836992..195839913-chr1:195867616..195871581,4	K562	blood:
31	chr1:195845835..195848707-chr1:195860208..195862083,2	K562	blood:
32	chr1:195941539..195944213-chr1:195949780..195952268,2	K562	blood:
33	chr1:195900460..195904053-chr1:195910275..195914272,3	K562	blood:
34	chr1:195830037..195831904-chr1:195832068..195835892,3	K562	blood:
35	chr1:195835454..195837543-chr1:195844667..195847639,2	K562	blood:
36	chr1:195857673..195860102-chr1:195861318..195863869,3	K562	blood:
37	chr1:195908822..195909639-chr1:195998328..195999154,5	MCF-7	breast:
38	chr1:195837170..195839918-chr1:195861015..195863064,2	K562	blood:
39	chr1:195935419..195938367-chr1:195956376..195957962,2	K562	blood:
40	chr1:196001222..196002860-chr1:196004252..196007155,2	K562	blood:
41	chr1:195845835..195848328-chr1:195860583..195862092,2	K562	blood:
42	chr1:195871895..195874613-chr1:195874737..195876841,2	K562	blood:
43	chr1:195873239..195874768-chr1:195881768..195884763,2	MCF-7	breast:
44	chr1:195986781..195988746-chr1:195990099..195991886,2	K562	blood:
45	chr1:195947665..195949248-chr1:195952438..195954164,2	K562	blood:
46	chr1:195993999..195996870-chr1:195997208..196000349,3	K562	blood:
47	chr1:193362912..193364895-chr1:195930412..195933099,2	K562	blood:
48	chr1:195799469..195802438-chr1:195824190..195826627,2	K562	blood:
49	chr1:195975438..195979095-chr1:195981276..195984645,3	K562	blood:
50	chr1:195862339..195864260-chr1:195865555..195867697,3	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: 3896 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:3896 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10801474	chr1:195818443-195818444	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs142156290	chr1:195818474-195818475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189010220	chr1:195818475-195818476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534270528	chr1:195818510-195818511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555856300	chr1:195818511-195818512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10801475	chr1:195818517-195818518	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs10801476	chr1:195818528-195818529	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs556885971	chr1:195818548-195818549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12036635	chr1:195818564-195818565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10754164	chr1:195818619-195818620	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs181365796	chr1:195818624-195818625	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs151182110	chr1:195818674-195818675	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs185687365	chr1:195818705-195818706	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs539866230	chr1:195818768-195818769	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs377491775	chr1:195818810-195818811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561789977	chr1:195818857-195818858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569469127	chr1:195818862-195818863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188437186	chr1:195818863-195818864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551108076	chr1:195818915-195818916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs180704046	chr1:195818934-195818935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187185322	chr1:195818964-195818965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556594750	chr1:195818976-195818977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377755192	chr1:195819007-195819008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61820599	chr1:195819025-195819026	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs549122831	chr1:195819047-195819048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557825484	chr1:195819079-195819080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10754165	chr1:195819080-195819081	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs10754166	chr1:195819149-195819150	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs575134859	chr1:195819176-195819177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572766730	chr1:195819198-195819199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557606080	chr1:195819248-195819249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373687252	chr1:195819268-195819269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192160327	chr1:195819279-195819280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200801496	chr1:195819282-195819283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543302350	chr1:195819286-195819287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559535493	chr1:195819292-195819293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555304129	chr1:195819298-195819299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576550507	chr1:195819304-195819305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561531294	chr1:195819312-195819313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573678283	chr1:195819382-195819383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4436370	chr1:195819390-195819391	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs139089304	chr1:195819401-195819402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533593974	chr1:195819442-195819443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149894332	chr1:195819464-195819465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560731699	chr1:195819469-195819470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4518882	chr1:195819470-195819471	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs549310985	chr1:195819482-195819483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567596486	chr1:195819499-195819500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538325519	chr1:195819551-195819552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4436371	chr1:195819611-195819612	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:300 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195817400-195821200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr1:195818000-195820800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr1:195818000-195821200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr1:195818000-195825400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:195818000-195826000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:195818200-195818600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:195818200-195820200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:195818200-195821400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:195818200-195821600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:195818400-195820200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr1:195818400-195821400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:195818600-195818800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:195818800-195819200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:195820200-195820400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr1:195820200-195820400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr1:195820200-195820600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr1:195820200-195820800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr1:195820200-195820800	Enhancers	Primary hematopoietic stem cells	blood
19	chr1:195820200-195820800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:195820200-195821200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:195820200-195823400	Enhancers	HMEC	breast
22	chr1:195820400-195820800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:195820400-195821200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:195820800-195821200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr1:195820800-195821600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr1:195820800-195823800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr1:195821400-195823200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:195821400-195823400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr1:195821600-195835200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr1:195822800-195823000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:195823200-195823600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr1:195823400-195823600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr1:195825400-195825800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:195832800-195833200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:195832800-195833600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr1:195833200-195833600	Enhancers	K562	blood
37	chr1:195833600-195834600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr1:195833600-195836600	Active TSS	K562	blood
39	chr1:195834600-195835600	Enhancers	Fetal Brain Male	brain
40	chr1:195834600-195835800	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr1:195834800-195835000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr1:195835000-195835600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr1:195835200-195835800	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr1:195835200-195835800	Enhancers	Brain Substantia Nigra	brain
45	chr1:195835600-195835800	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr1:195835800-195837400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:195836600-195837000	Enhancers	K562	blood
48	chr1:195841400-195841800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:195849000-195849400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr1:195849000-195849400	Enhancers	HUES64 Cell Line	embryonic stem cell

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