Variant report

Variant	esv12065
Chromosome Location	chr1:10369418-10378885
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10366942..10370900-chr1:10370974..10374307,3	K562	blood:
2	chr1:10363969..10365666-chr1:10368809..10370955,2	MCF-7	breast:
3	chr1:10362813..10365795-chr1:10373892..10375674,2	K562	blood:
4	chr1:10366942..10370900-chr1:10370974..10374307,3	K562	blood:

Extended variants
information (count: 361 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142372078	chr1:10369421-10369422	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535735343	chr1:10369433-10369434	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557177132	chr1:10369453-10369454	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368830459	chr1:10369468-10369469	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376698107	chr1:10369476-10369477	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575409201	chr1:10369512-10369513	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532867663	chr1:10369538-10369539	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12737841	chr1:10369546-10369547	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs75550234	chr1:10369567-10369568	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116445641	chr1:10369620-10369621	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371323272	chr1:10369658-10369659	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544072812	chr1:10369702-10369703	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540226508	chr1:10369711-10369712	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561658958	chr1:10369751-10369752	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113022853	chr1:10369764-10369765	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544497481	chr1:10369783-10369784	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs180879015	chr1:10369852-10369853	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533170013	chr1:10369857-10369858	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140446972	chr1:10369876-10369877	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76930106	chr1:10369910-10369911	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184946635	chr1:10369926-10369927	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546627265	chr1:10369929-10369930	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568108501	chr1:10369973-10369974	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146631257	chr1:10370062-10370063	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs72865984	chr1:10370073-10370074	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs569171865	chr1:10370083-10370084	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540045683	chr1:10370094-10370095	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs17034714	chr1:10370127-10370128	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs192035814	chr1:10370130-10370131	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138985881	chr1:10370190-10370191	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148840418	chr1:10370191-10370192	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs58809829	chr1:10370211-10370212	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs562252332	chr1:10370212-10370213	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562794872	chr1:10370219-10370220	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529641844	chr1:10370269-10370270	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577817180	chr1:10370306-10370307	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4846212	chr1:10370312-10370313	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs560077482	chr1:10370322-10370323	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559761857	chr1:10370365-10370366	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75914847	chr1:10370377-10370378	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551087652	chr1:10370422-10370423	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs182525873	chr1:10370463-10370464	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs113820413	chr1:10370470-10370471	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs143500687	chr1:10370515-10370516	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs377329617	chr1:10370522-10370523	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs550532306	chr1:10370550-10370551	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs569537409	chr1:10370626-10370627	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555910298	chr1:10370655-10370656	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147974110	chr1:10370657-10370658	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370584571	chr1:10370668-10370669	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	20406844	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	20164919	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:224 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10315400-10373400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:10316800-10380200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:10352600-10381800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:10353200-10381800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:10357400-10385600	Weak transcription	Small Intestine	intestine
6	chr1:10357600-10397000	Weak transcription	Fetal Thymus	thymus
7	chr1:10358000-10381800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:10358600-10381800	Weak transcription	Primary T cells from cord blood	blood
9	chr1:10358800-10407000	Weak transcription	Primary B cells from cord blood	blood
10	chr1:10360000-10370200	Weak transcription	GM12878-XiMat	blood
11	chr1:10361800-10370800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:10363000-10373200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:10363000-10379800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:10363600-10373400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:10363800-10380000	Weak transcription	A549	lung
16	chr1:10364200-10381800	Weak transcription	Gastric	stomach
17	chr1:10364200-10394600	Weak transcription	Dnd41	blood
18	chr1:10364400-10380000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:10364400-10384800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr1:10364600-10379600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:10364600-10381800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:10364600-10381800	Weak transcription	Esophagus	oesophagus
23	chr1:10364600-10381800	Weak transcription	Pancreas	Pancrea
24	chr1:10364600-10382200	Weak transcription	Colonic Mucosa	Colon
25	chr1:10364600-10431000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr1:10364800-10381800	Weak transcription	Fetal Intestine Small	intestine
27	chr1:10364800-10381800	Weak transcription	Fetal Stomach	stomach
28	chr1:10364800-10381800	Weak transcription	Spleen	Spleen
29	chr1:10364800-10383800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:10364800-10386000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:10364800-10386000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:10364800-10386000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:10364800-10386000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:10364800-10386000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:10365000-10379600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr1:10365000-10381600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr1:10365000-10381800	Weak transcription	Aorta	Aorta
38	chr1:10365000-10381800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:10365000-10383800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr1:10365000-10385800	Weak transcription	NHEK	skin
41	chr1:10365200-10398400	Weak transcription	Fetal Heart	heart
42	chr1:10365600-10382400	Weak transcription	NHLF	lung
43	chr1:10365600-10383800	Weak transcription	HMEC	breast
44	chr1:10365600-10385600	Weak transcription	Hela-S3	cervix
45	chr1:10365800-10379800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:10365800-10379800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr1:10365800-10379800	Weak transcription	Fetal Kidney	kidney
48	chr1:10365800-10394800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:10366000-10378000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr1:10366000-10378400	Weak transcription	H9 Cell Line	embryonic stem cell

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