Variant report

Variant	esv3320702
Chromosome Location	chr1:150860090-150862929
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:150848583..150851950-chr1:150857256..150860143,3	MCF-7	breast:
2	chr1:150859611..150863685-chr1:150866729..150869931,3	K562	blood:

Variant related genes	Relation type
ENSG00000143437	chromatin interactions

Extended variants
information (count: 82 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376825572	chr1:150860099-150860100	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs139879692	chr1:150860160-150860161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs587627876	chr1:150860174-150860175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12410394	chr1:150860186-150860187	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs587699819	chr1:150860212-150860213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs587728140	chr1:150860284-150860285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs587634251	chr1:150860317-150860318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs587687080	chr1:150860417-150860418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7412746	chr1:150860471-150860472	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
10	rs140907504	chr1:150860545-150860546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35935543	chr1:150860553-150860554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs587666072	chr1:150860556-150860557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs587715268	chr1:150860570-150860571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117639769	chr1:150860631-150860632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199967612	chr1:150860693-150860694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200819926	chr1:150860694-150860695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560686152	chr1:150860695-150860696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199710280	chr1:150860698-150860699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs587704457	chr1:150860699-150860700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35992777	chr1:150860709-150860710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78852335	chr1:150860710-150860711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1241157	chr1:150860721-150860722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs587603110	chr1:150860814-150860815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs587640445	chr1:150860815-150860816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs587712005	chr1:150860834-150860835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs587597458	chr1:150860835-150860836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs587665450	chr1:150860848-150860849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184801778	chr1:150860873-150860874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11801851	chr1:150860891-150860892	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs370346468	chr1:150860933-150860934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs587600040	chr1:150860940-150860941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374973757	chr1:150860946-150860947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs587677380	chr1:150861045-150861046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs587735515	chr1:150861085-150861086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368474914	chr1:150861121-150861122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs587608698	chr1:150861163-150861164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372445722	chr1:150861215-150861216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6669855	chr1:150861229-150861230	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs138991487	chr1:150861248-150861249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368388350	chr1:150861327-150861328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs587713376	chr1:150861372-150861373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs587770761	chr1:150861427-150861428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs587649734	chr1:150861461-150861462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs587681060	chr1:150861463-150861464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150062480	chr1:150861470-150861471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145432788	chr1:150861480-150861481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116502714	chr1:150861609-150861610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs587769465	chr1:150861652-150861653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs587642723	chr1:150861657-150861658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375001898	chr1:150861660-150861661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	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
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150854000-150862200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:150854600-150862600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:150856800-150861800	Weak transcription	GM12878-XiMat	blood
4	chr1:150858400-150860200	Enhancers	Placenta	Placenta
5	chr1:150859600-150860200	Enhancers	HMEC	breast
6	chr1:150859600-150860400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr1:150859800-150867800	Weak transcription	Hela-S3	cervix
8	chr1:150860200-150863600	Weak transcription	Placenta	Placenta
9	chr1:150861200-150863800	Enhancers	Primary B cells from peripheral blood	blood
10	chr1:150861400-150863800	Enhancers	Primary B cells from cord blood	blood
11	chr1:150861600-150862200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr1:150861600-150864400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr1:150861800-150862000	Enhancers	GM12878-XiMat	blood
14	chr1:150861800-150862200	Enhancers	Primary T cells from cord blood	blood
15	chr1:150861800-150863400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr1:150861800-150863400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:150861800-150863600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr1:150862000-150862200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr1:150862000-150862400	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr1:150862000-150862600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr1:150862000-150862800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:150862000-150862800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:150862000-150863000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:150862000-150863000	Enhancers	Dnd41	blood
25	chr1:150862000-150863000	Flanking Active TSS	GM12878-XiMat	blood
26	chr1:150862000-150863200	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr1:150862000-150863400	Enhancers	Primary hematopoietic stem cells	blood
28	chr1:150862000-150863400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr1:150862000-150863400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:150862000-150863400	Enhancers	Fetal Thymus	thymus
31	chr1:150862000-150863600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:150862200-150862400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr1:150862200-150862600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr1:150862200-150863000	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr1:150862200-150863000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:150862200-150863000	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr1:150862200-150863400	Enhancers	Primary T cells fromperipheralblood	blood
38	chr1:150862400-150862600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr1:150862400-150862800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr1:150862400-150863000	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr1:150862600-150862800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr1:150862600-150863600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr1:150862800-150863600	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr1:150862800-150863600	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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