Variant report

Variant	esv3443658
Chromosome Location	chr1:151613153-151615701
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	chr1:151612702..151614704-chr1:151617045..151618736,2	K562	blood:

Extended variants
information (count: 112 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111310642	chr1:151613175-151613176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568471530	chr1:151613210-151613211	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537506694	chr1:151613254-151613255	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536622832	chr1:151613255-151613256	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554584161	chr1:151613257-151613258	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557124652	chr1:151613285-151613286	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35837236	chr1:151613316-151613317	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201635232	chr1:151613326-151613327	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577162485	chr1:151613340-151613341	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150972387	chr1:151613345-151613346	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111876945	chr1:151613427-151613428	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185435189	chr1:151613488-151613489	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145301292	chr1:151613490-151613491	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190647316	chr1:151613492-151613493	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140788739	chr1:151613538-151613539	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562265169	chr1:151613636-151613637	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192822244	chr1:151613647-151613648	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565917126	chr1:151613700-151613701	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563964729	chr1:151613777-151613778	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144271243	chr1:151613807-151613808	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546944065	chr1:151613811-151613812	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560469664	chr1:151613852-151613853	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185241278	chr1:151613916-151613917	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540434512	chr1:151613919-151613920	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35552584	chr1:151613936-151613937	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147793995	chr1:151613980-151613981	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141156409	chr1:151614031-151614032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563373812	chr1:151614075-151614076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs60948298	chr1:151614099-151614100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs56886589	chr1:151614106-151614107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs59569584	chr1:151614123-151614124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537191003	chr1:151614138-151614139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12028826	chr1:151614154-151614155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12039257	chr1:151614158-151614159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12029586	chr1:151614159-151614160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs56391735	chr1:151614170-151614171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201274875	chr1:151614250-151614251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57586269	chr1:151614251-151614252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559547809	chr1:151614252-151614253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189117620	chr1:151614266-151614267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539472798	chr1:151614273-151614274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552912686	chr1:151614276-151614277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138332038	chr1:151614297-151614298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs57549133	chr1:151614301-151614302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs35532371	chr1:151614331-151614332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34169801	chr1:151614351-151614352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181144719	chr1:151614352-151614353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568301730	chr1:151614358-151614359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35670251	chr1:151614380-151614381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185540041	chr1:151614394-151614395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

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
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151586400-151622200	Weak transcription	Fetal Thymus	thymus
2	chr1:151586400-151626600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:151587600-151640600	Weak transcription	Fetal Brain Male	brain
4	chr1:151588000-151626600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:151588200-151620600	Weak transcription	Brain Germinal Matrix	brain
6	chr1:151588200-151665200	Weak transcription	Aorta	Aorta
7	chr1:151589000-151617600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:151589000-151620600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr1:151589600-151613200	Weak transcription	Dnd41	blood
10	chr1:151591000-151630800	Weak transcription	Fetal Kidney	kidney
11	chr1:151591200-151675400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr1:151592000-151622600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:151592600-151613200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:151592600-151613600	Weak transcription	NHEK	skin
15	chr1:151592600-151613800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:151592600-151633800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:151592800-151630600	Weak transcription	Hela-S3	cervix
18	chr1:151594000-151621000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr1:151594000-151652800	Weak transcription	Right Ventricle	heart
20	chr1:151594200-151617400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:151594200-151620600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:151594600-151613200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr1:151597800-151616200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:151598400-151613400	Weak transcription	Placenta	Placenta
25	chr1:151601200-151617800	Weak transcription	Fetal Brain Female	brain
26	chr1:151601400-151629800	Weak transcription	Thymus	Thymus
27	chr1:151601600-151613200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:151603000-151663200	Weak transcription	Colonic Mucosa	Colon
29	chr1:151606000-151621800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr1:151606800-151630800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:151608200-151615000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:151608200-151630600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:151608600-151613400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr1:151610200-151633800	Weak transcription	HUVEC	blood vessel
35	chr1:151610400-151626800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr1:151610600-151613200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr1:151610600-151617800	Weak transcription	Fetal Muscle Leg	muscle
38	chr1:151610600-151618000	Weak transcription	Ovary	ovary
39	chr1:151610600-151620600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:151610600-151620600	Weak transcription	Fetal Stomach	stomach
41	chr1:151610600-151625800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:151610600-151626000	Weak transcription	Spleen	Spleen
43	chr1:151610600-151626600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:151610600-151630600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr1:151610600-151631000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr1:151610600-151652200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr1:151610600-151665000	Weak transcription	Lung	lung
48	chr1:151610800-151620600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr1:151610800-151631000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr1:151611000-151613400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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