Variant report

Variant	esv2756873
Chromosome Location	chr1:189317621-189568547
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:35)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:189408828..189411419-chr1:189412082..189414422,2	K562	blood:
2	chr1:189398256..189399319-chr1:190290193..190290907,3	MCF-7	breast:
3	chr1:189475496..189478003-chr1:189479734..189481835,2	K562	blood:
4	chr1:189424671..189426547-chr1:189428199..189429967,2	K562	blood:
5	chr1:189535776..189538108-chr1:189539099..189541402,2	K562	blood:
6	chr1:189121464..189123287-chr1:189388904..189390413,2	K562	blood:
7	chr1:189409498..189411737-chr1:189422806..189424517,2	MCF-7	breast:
8	chr1:189399166..189401720-chr1:189433273..189435659,2	K562	blood:
9	chr1:189398408..189399387-chr1:189661985..189662829,2	MCF-7	breast:
10	chr1:189189341..189190044-chr1:189398354..189398974,2	MCF-7	breast:
11	chr1:189390529..189394907-chr1:189395498..189400534,5	K562	blood:
12	chr1:189408828..189411419-chr1:189412082..189414422,2	K562	blood:
13	chr1:189416774..189418507-chr1:189422911..189425482,2	K562	blood:
14	chr1:189416774..189418507-chr1:189422911..189425482,2	K562	blood:
15	chr1:189398509..189399144-chr1:189660311..189661261,2	MCF-7	breast:
16	chr1:189535776..189538108-chr1:189539099..189541402,2	K562	blood:
17	chr1:189119463..189122039-chr1:189394507..189396400,2	K562	blood:
18	chr1:188762438..188765055-chr1:189455240..189458166,2	MCF-7	breast:
19	chr1:189534638..189536257-chr1:189546205..189548519,2	K562	blood:
20	chr1:189493316..189495330-chr8:119780090..119782266,2	MCF-7	breast:
21	chr1:189424671..189426547-chr1:189428199..189429967,2	K562	blood:
22	chr1:189511503..189514474-chr1:189516095..189518891,2	MCF-7	breast:
23	chr1:189511503..189514474-chr1:189516095..189518891,2	MCF-7	breast:
24	chr1:189398440..189399083-chr1:189642226..189643036,4	MCF-7	breast:
25	chr1:189456998..189459312-chr1:189462983..189466310,3	MCF-7	breast:
26	chr1:189475496..189478003-chr1:189479734..189481835,2	K562	blood:
27	chr1:189390529..189394907-chr1:189395498..189400534,5	K562	blood:
28	chr1:188746632..188749210-chr1:189368064..189370522,2	K562	blood:
29	chr1:189399166..189401720-chr1:189433273..189435659,2	K562	blood:
30	chr1:189456998..189459312-chr1:189462983..189466310,3	MCF-7	breast:
31	chr1:189398245..189398855-chr3:191237330..191238213,2	MCF-7	breast:
32	chr1:189398752..189399352-chr1:190289866..190290710,2	MCF-7	breast:
33	chr1:189389640..189390412-chr9:79530846..79531642,2	MCF-7	breast:
34	chr1:189409498..189411737-chr1:189422806..189424517,2	MCF-7	breast:
35	chr1:189534638..189536257-chr1:189546205..189548519,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLA2G4A-18	chr1:189464076-189464220	NONHSAT008485
2	lnc-PLA2G4A-18	chr1:189456912-189457065	NONHSAT008485

No data

Extended variants
information (count: 1329 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1329 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35885525	chr1:189318434-189318435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565944353	chr1:189318449-189318450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528559454	chr1:189318473-189318474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551602001	chr1:189318491-189318492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11801916	chr1:189318499-189318500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539676590	chr1:189318565-189318566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556491688	chr1:189318574-189318575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75963843	chr1:189318626-189318627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35395506	chr1:189318643-189318644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75769974	chr1:189318661-189318662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75471022	chr1:189318702-189318703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75568743	chr1:189318712-189318713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541086494	chr1:189318738-189318739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114340302	chr1:189318802-189318803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147046318	chr1:189318804-189318805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532463922	chr1:189318824-189318825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563550222	chr1:189318849-189318850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529499128	chr1:189318870-189318871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569217760	chr1:189318910-189318911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10921849	chr1:189318942-189318943	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs559667522	chr1:189318943-189318944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528513437	chr1:189318944-189318945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138289678	chr1:189318957-189318958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200735739	chr1:189319000-189319001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113793446	chr1:189319003-189319004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549959543	chr1:189319032-189319033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78997780	chr1:189319084-189319085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184627044	chr1:189319153-189319154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189340443	chr1:189319171-189319172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74326310	chr1:189319257-189319258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181955681	chr1:189319328-189319329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141894326	chr1:189319372-189319373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150631088	chr1:189319404-189319405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536752964	chr1:189319426-189319427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532989368	chr1:189319431-189319432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77020453	chr1:189319437-189319438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574169350	chr1:189319497-189319498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543291829	chr1:189319505-189319506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559826414	chr1:189319514-189319515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs17362758	chr1:189319561-189319562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs199568904	chr1:189319594-189319595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139156691	chr1:189319599-189319600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552842741	chr1:189319694-189319695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530977191	chr1:189319700-189319701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77240466	chr1:189319708-189319709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563438081	chr1:189319720-189319721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112003364	chr1:189319743-189319744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549237784	chr1:189319753-189319754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10921850	chr1:189319775-189319776	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs113418550	chr1:189319796-189319797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17899364	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
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189318400-189319200	Enhancers	Stomach Mucosa	stomach
2	chr1:189318600-189319000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:189319200-189325200	Weak transcription	Stomach Mucosa	stomach
4	chr1:189320200-189320800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:189320200-189320800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:189320200-189320800	Active TSS	Ovary	ovary
7	chr1:189320200-189320800	Active TSS	Stomach Smooth Muscle	stomach
8	chr1:189320200-189320800	Active TSS	A549	lung
9	chr1:189320200-189321000	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr1:189320400-189320800	Active TSS	Duodenum Mucosa	Duodenum
11	chr1:189320400-189320800	Active TSS	Right Atrium	heart
12	chr1:189320400-189320800	Active TSS	GM12878-XiMat	blood
13	chr1:189320400-189321000	Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr1:189320800-189321200	Flanking Active TSS	A549	lung
15	chr1:189321200-189321600	Enhancers	A549	lung
16	chr1:189325000-189325200	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr1:189325200-189325600	Enhancers	Stomach Mucosa	stomach
18	chr1:189325200-189326600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:189325600-189326600	Weak transcription	Stomach Mucosa	stomach
20	chr1:189326600-189327000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr1:189326600-189327000	Enhancers	Stomach Mucosa	stomach
22	chr1:189343800-189344600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:189344000-189344600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:189370200-189370400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:189370400-189370800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:189372200-189373000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr1:189373000-189373200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:189373200-189373400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:189373400-189374400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:189374200-189374400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
31	chr1:189374200-189374400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:189374200-189375200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:189374400-189374600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:189374400-189374600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:189374400-189375600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr1:189374400-189375800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr1:189374600-189374800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr1:189374600-189374800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:189374600-189374800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:189374600-189375400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:189374800-189375000	Enhancers	H9 Cell Line	embryonic stem cell
42	chr1:189374800-189375400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr1:189374800-189375400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr1:189378800-189379600	Enhancers	A549	lung
45	chr1:189464600-189466600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:189465200-189466400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:189466400-189469400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:189466600-189469600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:189469400-189470400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:189469600-189470400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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