Variant report

Variant	esv2755902
Chromosome Location	chr1:195819871-196028887
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:109)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:109 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr1:196001222..196002860-chr1:196004252..196007155,2	K562	blood:
2	chr1:195975438..195979095-chr1:195981276..195984645,3	K562	blood:
3	chr1:195908049..195910534-chr1:195911759..195915104,3	K562	blood:
4	chr1:195933946..195935756-chr1:195940527..195943521,2	K562	blood:
5	chr1:195900460..195904053-chr1:195910275..195914272,3	K562	blood:
6	chr1:195862339..195864260-chr1:195865555..195867697,3	K562	blood:
7	chr1:195986781..195988746-chr1:195990099..195991886,2	K562	blood:
8	chr1:195901511..195904134-chr1:195919698..195921309,2	K562	blood:
9	chr1:195941539..195944213-chr1:195949780..195952268,2	K562	blood:
10	chr1:195902143..195904791-chr1:195905096..195906863,2	K562	blood:
11	chr1:195901067..195904510-chr1:195904867..195907944,3	K562	blood:
12	chr1:195946889..195949248-chr1:195951853..195953938,2	K562	blood:
13	chr1:195941539..195944213-chr1:195949780..195952268,2	K562	blood:
14	chr1:195833265..195836261-chr1:195994257..195997150,2	K562	blood:
15	chr1:195830037..195831904-chr1:195832068..195835892,3	K562	blood:
16	chr1:195831209..195836948-chr1:195865315..195869441,6	K562	blood:
17	chr1:195960940..195963536-chr1:195979174..195981179,2	K562	blood:
18	chr1:195901067..195904510-chr1:195904867..195907944,3	K562	blood:
19	chr1:195950441..195952834-chr1:195961888..195963908,2	K562	blood:
20	chr1:195922958..195925594-chr1:195930785..195932321,2	K562	blood:
21	chr1:195908822..195909639-chr1:195998328..195999154,5	MCF-7	breast:
22	chr1:195830037..195831904-chr1:195832068..195835892,3	K562	blood:
23	chr1:195817026..195821248-chr1:195822021..195827460,5	K562	blood:
24	chr1:195833669..195835807-chr1:195874591..195877128,2	K562	blood:
25	chr1:195851101..195853777-chr1:195856895..195858997,3	K562	blood:
26	chr1:195857673..195860102-chr1:195861318..195863869,3	K562	blood:
27	chr1:195947665..195949248-chr1:195952438..195954164,2	K562	blood:
28	chr1:195930176..195932794-chr1:195935664..195937218,2	K562	blood:
29	chr1:195954938..195957101-chr1:195959563..195962139,2	K562	blood:
30	chr1:196001222..196002860-chr1:196004252..196007155,2	K562	blood:
31	chr1:195901511..195904134-chr1:195919698..195921309,2	K562	blood:
32	chr1:195837170..195839918-chr1:195861015..195863064,2	K562	blood:
33	chr1:195854670..195856185-chr1:195857598..195860308,2	K562	blood:
34	chr1:195988890..195990860-chr1:195993598..195995590,2	K562	blood:
35	chr1:195817026..195821248-chr1:195822021..195827460,5	K562	blood:
36	chr1:195908822..195909639-chr1:195998328..195999154,5	MCF-7	breast:
37	chr1:195834331..195836964-chr1:195857452..195860455,3	K562	blood:
38	chr1:195935419..195938367-chr1:195956376..195957962,2	K562	blood:
39	chr1:195854670..195856185-chr1:195857598..195860308,2	K562	blood:
40	chr1:195908810..195909713-chr1:195998289..195999101,3	MCF-7	breast:
41	chr1:196025146..196027992-chr1:196038512..196040205,2	K562	blood:
42	chr1:195871895..195874613-chr1:195874737..195876841,2	K562	blood:
43	chr1:195902143..195904791-chr1:195905096..195906863,2	K562	blood:
44	chr1:195890973..195893135-chr1:195899098..195901610,2	K562	blood:
45	chr1:195993999..195996870-chr1:195997208..196000349,3	K562	blood:
46	chr1:195857673..195860102-chr1:195861318..195863869,3	K562	blood:
47	chr1:195845594..195848428-chr1:195851192..195853399,2	K562	blood:
48	chr1:195836992..195839913-chr1:195867616..195871581,4	K562	blood:
49	chr1:195950441..195952834-chr1:195961888..195963908,2	K562	blood:
50	chr1:196024750..196028209-chr1:196030222..196033690,4	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: 3922 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:3922 , 50 per page) page: 1 2 3 4 5 6 7 ... 79

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12081890	chr1:195819871-195819872	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs140772144	chr1:195819873-195819874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527982872	chr1:195819933-195819934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549449182	chr1:195819953-195819954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183516826	chr1:195819988-195819989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531581626	chr1:195820014-195820015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550166789	chr1:195820028-195820029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571368204	chr1:195820105-195820106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145171272	chr1:195820156-195820157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11585686	chr1:195820167-195820168	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs566371882	chr1:195820175-195820176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552122286	chr1:195820202-195820203	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559493570	chr1:195820234-195820235	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567573198	chr1:195820253-195820254	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146871627	chr1:195820287-195820288	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186011929	chr1:195820303-195820304	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4469700	chr1:195820337-195820338	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs372277154	chr1:195820353-195820354	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554395396	chr1:195820364-195820365	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190420522	chr1:195820396-195820397	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182708702	chr1:195820397-195820398	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561390913	chr1:195820416-195820417	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148992911	chr1:195820419-195820420	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs4440838	chr1:195820439-195820440	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs186975771	chr1:195820463-195820464	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs4484908	chr1:195820526-195820527	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs565587838	chr1:195820533-195820534	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376645978	chr1:195820535-195820536	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192366118	chr1:195820539-195820540	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200281850	chr1:195820547-195820548	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570975774	chr1:195820616-195820617	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566637750	chr1:195820640-195820641	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527465561	chr1:195820664-195820665	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549174435	chr1:195820669-195820670	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182617774	chr1:195820678-195820679	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538144971	chr1:195820705-195820706	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529774495	chr1:195820725-195820726	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188865988	chr1:195820767-195820768	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538719736	chr1:195820772-195820773	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553934397	chr1:195820800-195820801	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374075404	chr1:195820839-195820840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542814459	chr1:195820868-195820869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34266824	chr1:195820889-195820890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555150507	chr1:195820899-195820900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532728229	chr1:195820935-195820936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373388680	chr1:195820941-195820942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114503823	chr1:195820984-195820985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6428305	chr1:195821035-195821036	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs6428306	chr1:195821064-195821065	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs6428307	chr1:195821071-195821072	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:307 , 50 per page) page: 1 2 3 4 5 6 7

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	chr1:195818200-195820200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:195818200-195821400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:195818200-195821600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:195818400-195820200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:195818400-195821400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr1:195820200-195820400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr1:195820200-195820400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr1:195820200-195820600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr1:195820200-195820800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr1:195820200-195820800	Enhancers	Primary hematopoietic stem cells	blood
16	chr1:195820200-195820800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:195820200-195821200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:195820200-195823400	Enhancers	HMEC	breast
19	chr1:195820400-195820800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:195820400-195821200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:195820800-195821200	Enhancers	H9 Cell Line	embryonic stem cell
22	chr1:195820800-195821600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr1:195820800-195823800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:195821400-195823200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:195821400-195823400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr1:195821600-195835200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:195822800-195823000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:195823200-195823600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr1:195823400-195823600	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr1:195825400-195825800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:195832800-195833200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:195832800-195833600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr1:195833200-195833600	Enhancers	K562	blood
34	chr1:195833600-195834600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:195833600-195836600	Active TSS	K562	blood
36	chr1:195834600-195835600	Enhancers	Fetal Brain Male	brain
37	chr1:195834600-195835800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr1:195834800-195835000	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr1:195835000-195835600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:195835200-195835800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr1:195835200-195835800	Enhancers	Brain Substantia Nigra	brain
42	chr1:195835600-195835800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr1:195835800-195837400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr1:195836600-195837000	Enhancers	K562	blood
45	chr1:195841400-195841800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:195849000-195849400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr1:195849000-195849400	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr1:195849000-195849400	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr1:195849000-195849400	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr1:195855400-195855800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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