Variant report

Variant	esv3442070
Chromosome Location	chr1:150700278-150703526
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371727100	chr1:150700310-150700311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377181619	chr1:150700331-150700332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs5777735	chr1:150700367-150700368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201339672	chr1:150700368-150700369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199838487	chr1:150700373-150700374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12045672	chr1:150700391-150700392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372550472	chr1:150700399-150700400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371006011	chr1:150700413-150700414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs587772809	chr1:150700414-150700415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200806664	chr1:150700430-150700431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111894119	chr1:150700432-150700433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201513194	chr1:150700436-150700437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs587709791	chr1:150700500-150700501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs587594230	chr1:150700505-150700506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs587663941	chr1:150700537-150700538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113531449	chr1:150700588-150700589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199560313	chr1:150700596-150700597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12406409	chr1:150700597-150700598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199621380	chr1:150700614-150700615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs587743053	chr1:150700632-150700633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs587618345	chr1:150700640-150700641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs587698268	chr1:150700651-150700652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs587728110	chr1:150700678-150700679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs587617569	chr1:150700717-150700718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142727277	chr1:150700718-150700719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369728362	chr1:150700750-150700751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373248241	chr1:150700839-150700840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376522791	chr1:150700846-150700847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111733366	chr1:150700876-150700877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111906083	chr1:150700879-150700880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375778458	chr1:150700880-150700881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370967530	chr1:150700898-150700899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374731256	chr1:150700913-150700914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111778925	chr1:150701012-150701013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368202227	chr1:150701035-150701036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370804898	chr1:150701043-150701044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374616975	chr1:150701086-150701087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368032964	chr1:150701106-150701107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200052899	chr1:150701311-150701312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372162211	chr1:150701340-150701341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200836493	chr1:150701356-150701357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7537533	chr1:150701484-150701485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375235107	chr1:150701511-150701512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368096493	chr1:150701560-150701561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376470670	chr1:150701586-150701587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201644339	chr1:150701620-150701621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367831285	chr1:150701627-150701628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372725354	chr1:150701666-150701667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs587771099	chr1:150701830-150701831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs587669031	chr1:150701871-150701872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Cancer	23975201	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150670600-150702600	Weak transcription	Hela-S3	cervix
2	chr1:150681600-150702600	Weak transcription	A549	lung
3	chr1:150690800-150702400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr1:150695000-150702600	Weak transcription	Primary B cells from cord blood	blood
5	chr1:150695200-150702800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:150696400-150702600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr1:150697200-150704400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:150697400-150702800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr1:150697600-150705000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:150698600-150704400	Weak transcription	Lung	lung
11	chr1:150699200-150702600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr1:150700600-150702600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr1:150700600-150704000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:150700800-150704000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:150700800-150704200	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr1:150701000-150704000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:150701000-150706000	Weak transcription	Primary T cells from cord blood	blood
18	chr1:150701400-150704400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr1:150701400-150704400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr1:150701400-150707600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:150701400-150708000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:150701400-150710000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:150701400-150727400	Weak transcription	Left Ventricle	heart
24	chr1:150701600-150704800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr1:150701800-150710400	Weak transcription	Adipose Nuclei	Adipose
26	chr1:150702200-150704200	Weak transcription	GM12878-XiMat	blood
27	chr1:150702400-150702600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:150702400-150704600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr1:150702400-150707600	Weak transcription	Liver	Liver
30	chr1:150702400-150716200	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr1:150702600-150703000	Flanking Active TSS	A549	lung
32	chr1:150702600-150703200	Enhancers	Hela-S3	cervix
33	chr1:150702600-150715800	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr1:150702600-150716200	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr1:150702600-150716200	Strong transcription	Primary B cells from cord blood	blood
36	chr1:150702600-150716200	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr1:150702800-150703000	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr1:150702800-150703200	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr1:150702800-150705000	Weak transcription	Fetal Thymus	thymus
40	chr1:150702800-150716200	Strong transcription	Primary B cells from peripheral blood	blood
41	chr1:150703000-150703200	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr1:150703000-150703200	Enhancers	A549	lung
43	chr1:150703000-150704400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:150703000-150706600	Weak transcription	Spleen	Spleen
45	chr1:150703200-150704400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr1:150703200-150704400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr1:150703200-150705200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr1:150703200-150709000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:150703200-150713200	Weak transcription	Fetal Intestine Small	intestine

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