Variant report

Variant	esv3508180
Chromosome Location	chr1:10368365-10379763
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 423 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:423 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568195604	chr1:10368403-10368404	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537297485	chr1:10368415-10368416	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529117221	chr1:10368430-10368431	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181701853	chr1:10368461-10368462	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555132812	chr1:10368474-10368475	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149524751	chr1:10368500-10368501	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113045685	chr1:10368524-10368525	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537534300	chr1:10368560-10368561	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558729513	chr1:10368643-10368644	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111832007	chr1:10368662-10368663	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147225148	chr1:10368688-10368689	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553647567	chr1:10368799-10368800	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574766662	chr1:10368844-10368845	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534581557	chr1:10368851-10368852	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552817966	chr1:10368860-10368861	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112569410	chr1:10368887-10368888	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542018911	chr1:10369013-10369014	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114381621	chr1:10369024-10369025	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140467817	chr1:10369093-10369094	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184164018	chr1:10369107-10369108	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563952553	chr1:10369122-10369123	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144391629	chr1:10369131-10369132	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147411681	chr1:10369244-10369245	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561984468	chr1:10369245-10369246	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188369029	chr1:10369286-10369287	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148742219	chr1:10369346-10369347	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569071893	chr1:10369382-10369383	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531056516	chr1:10369388-10369389	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576533448	chr1:10369394-10369395	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570825087	chr1:10369406-10369407	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535935005	chr1:10369416-10369417	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs55792417	chr1:10369417-10369418	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs142372078	chr1:10369421-10369422	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535735343	chr1:10369433-10369434	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557177132	chr1:10369453-10369454	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368830459	chr1:10369468-10369469	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376698107	chr1:10369476-10369477	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575409201	chr1:10369512-10369513	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532867663	chr1:10369538-10369539	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12737841	chr1:10369546-10369547	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs75550234	chr1:10369567-10369568	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116445641	chr1:10369620-10369621	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371323272	chr1:10369658-10369659	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544072812	chr1:10369702-10369703	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540226508	chr1:10369711-10369712	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561658958	chr1:10369751-10369752	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113022853	chr1:10369764-10369765	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544497481	chr1:10369783-10369784	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs180879015	chr1:10369852-10369853	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533170013	chr1:10369857-10369858	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:295 , 50 per page) page: 1 2 3 4 5 6

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	chr1:10349800-10369400	Weak transcription	Right Atrium	heart
4	chr1:10352600-10381800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:10353200-10381800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:10357400-10385600	Weak transcription	Small Intestine	intestine
7	chr1:10357600-10397000	Weak transcription	Fetal Thymus	thymus
8	chr1:10358000-10381800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:10358400-10369400	Weak transcription	Psoas Muscle	Psoas
10	chr1:10358600-10381800	Weak transcription	Primary T cells from cord blood	blood
11	chr1:10358800-10407000	Weak transcription	Primary B cells from cord blood	blood
12	chr1:10360000-10370200	Weak transcription	GM12878-XiMat	blood
13	chr1:10361800-10370800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:10363000-10373200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:10363000-10379800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:10363600-10373400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:10363800-10380000	Weak transcription	A549	lung
18	chr1:10364200-10368600	Weak transcription	K562	blood
19	chr1:10364200-10381800	Weak transcription	Gastric	stomach
20	chr1:10364200-10394600	Weak transcription	Dnd41	blood
21	chr1:10364400-10380000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:10364400-10384800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr1:10364600-10369400	Weak transcription	Ovary	ovary
24	chr1:10364600-10369400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:10364600-10379600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr1:10364600-10381800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:10364600-10381800	Weak transcription	Esophagus	oesophagus
28	chr1:10364600-10381800	Weak transcription	Pancreas	Pancrea
29	chr1:10364600-10382200	Weak transcription	Colonic Mucosa	Colon
30	chr1:10364600-10431000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr1:10364800-10381800	Weak transcription	Fetal Intestine Small	intestine
32	chr1:10364800-10381800	Weak transcription	Fetal Stomach	stomach
33	chr1:10364800-10381800	Weak transcription	Spleen	Spleen
34	chr1:10364800-10383800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:10364800-10386000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:10364800-10386000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:10364800-10386000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:10364800-10386000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:10364800-10386000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:10365000-10379600	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr1:10365000-10381600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr1:10365000-10381800	Weak transcription	Aorta	Aorta
43	chr1:10365000-10381800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:10365000-10383800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr1:10365000-10385800	Weak transcription	NHEK	skin
46	chr1:10365200-10398400	Weak transcription	Fetal Heart	heart
47	chr1:10365400-10369400	Weak transcription	NH-A	brain
48	chr1:10365600-10382400	Weak transcription	NHLF	lung
49	chr1:10365600-10383800	Weak transcription	HMEC	breast
50	chr1:10365600-10385600	Weak transcription	Hela-S3	cervix

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