Variant report

Variant	esv3584596
Chromosome Location	chr1:146960787-146970568
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:146966217..146968736-chr1:146969818..146971543,2	MCF-7	breast:
2	chr1:146966612..146968726-chr1:147098823..147099997,7	MCF-7	breast:
3	chr1:146965122..146968156-chr1:147070792..147073176,3	MCF-7	breast:
4	chr1:146966531..146967185-chr1:147171603..147172737,5	MCF-7	breast:
5	chr1:146966452..146967044-chr17:59494207..59494892,2	MCF-7	breast:
6	chr1:146966546..146967538-chr1:147099000..147099921,6	MCF-7	breast:
7	chr1:146966528..146967408-chr1:147113486..147114375,3	K562	blood:
8	chr1:146967940..146970821-chr1:146975133..146977261,2	MCF-7	breast:
9	chr1:146968843..146971407-chr1:147111788..147114623,2	MCF-7	breast:
10	chr1:146966630..146968870-chr1:147069484..147072614,4	MCF-7	breast:
11	chr1:146955799..146957380-chr1:146959586..146961423,2	MCF-7	breast:
12	chr1:146966869..146967423-chr10:62466669..62467189,2	MCF-7	breast:
13	chr1:146966469..146967451-chr1:147112672..147113190,3	MCF-7	breast:
14	chr1:146966217..146968736-chr1:146969818..146971543,2	MCF-7	breast:
15	chr1:146966519..146967415-chr1:147113356..147114363,3	MCF-7	breast:
16	chr1:146966674..146967846-chr1:147362060..147362896,3	MCF-7	breast:
17	chr1:146745304..146745819-chr1:146965012..146965946,2	MCF-7	breast:
18	chr1:146861647..146862210-chr1:146963967..146964711,2	MCF-7	breast:
19	chr1:146966505..146967478-chr1:147112313..147113147,4	MCF-7	breast:
20	chr1:146966752..146967334-chr1:146986997..146987720,2	MCF-7	breast:
21	chr1:146968561..146971341-chr1:146981220..146982910,2	MCF-7	breast:
22	chr1:146966147..146968131-chr1:147113029..147115620,2	MCF-7	breast:
23	chr1:146970555..146972745-chr1:147071100..147072772,2	MCF-7	breast:
24	chr1:146744838..146745980-chr1:146963613..146964616,7	MCF-7	breast:
25	chr1:146961325..146964597-chr1:146964990..146967892,3	K562	blood:
26	chr1:146967548..146969792-chr4:177239502..177242076,2	MCF-7	breast:
27	chr1:146966419..146968529-chr1:147112636..147115549,2	MCF-7	breast:
28	chr1:146966433..146968297-chr1:146968939..146971580,2	K562	blood:
29	chr1:146966433..146968297-chr1:146968939..146971580,2	K562	blood:
30	chr1:146961325..146964597-chr1:146964990..146967892,3	K562	blood:
31	chr1:146966391..146967425-chr1:147113261..147114425,11	MCF-7	breast:
32	chr1:146964911..146966896-chr1:147101578..147104258,2	MCF-7	breast:
33	chr1:146745110..146745920-chr1:146966509..146967800,5	MCF-7	breast:
34	chr1:146963997..146964755-chr1:147364675..147365454,2	MCF-7	breast:
35	chr1:146966921..146967435-chr1:147098992..147099606,2	K562	blood:
36	chr1:146966910..146967847-chr1:146976467..146977257,3	MCF-7	breast:
37	chr1:146957529..146959986-chr1:146962255..146966212,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000116128	chromatin interactions
ENSG00000129128	chromatin interactions
ENSG00000248980	chromatin interactions

Extended variants
information (count: 426 )
Associated
traits (count: 155 )

Variant overlapped rSNPs/rCNVs (count:426 , 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	rs371851360	chr1:146960798-146960799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78010618	chr1:146960806-146960807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs587674856	chr1:146960819-146960820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376150781	chr1:146960845-146960846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184630546	chr1:146960875-146960876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188246489	chr1:146960879-146960880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs587742382	chr1:146960913-146960914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74123888	chr1:146960914-146960915	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs587674512	chr1:146960960-146960961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs587726923	chr1:146960963-146960964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141464050	chr1:146961006-146961007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6659599	chr1:146961019-146961020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs150575172	chr1:146961030-146961031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140507963	chr1:146961055-146961056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs587694639	chr1:146961077-146961078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs587748557	chr1:146961084-146961085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371850253	chr1:146961102-146961103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117952348	chr1:146961103-146961104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs587772364	chr1:146961158-146961159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs180729129	chr1:146961167-146961168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs587733547	chr1:146961191-146961192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs587629729	chr1:146961216-146961217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79171883	chr1:146961230-146961231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377197679	chr1:146961242-146961243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs587666142	chr1:146961249-146961250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2453734	chr1:146961250-146961251	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs587600343	chr1:146961293-146961294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375883020	chr1:146961330-146961331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs587670295	chr1:146961377-146961378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs587722139	chr1:146961432-146961433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184028992	chr1:146961440-146961441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142371348	chr1:146961456-146961457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6657057	chr1:146961470-146961471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs587742776	chr1:146961567-146961568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190020607	chr1:146961619-146961620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs587743406	chr1:146961627-146961628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9438021	chr1:146961650-146961651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs200911866	chr1:146961689-146961690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61396792	chr1:146961690-146961691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181233175	chr1:146961749-146961750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs118181292	chr1:146961760-146961761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs587696295	chr1:146961864-146961865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs587771511	chr1:146961870-146961871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs587670827	chr1:146961871-146961872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139736289	chr1:146961873-146961874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187104681	chr1:146961937-146961938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs587636184	chr1:146961950-146961951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369652175	chr1:146961952-146961953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs55775788	chr1:146961953-146961954	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs587759194	chr1:146961973-146961974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:155)

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
small cell lung cancer	20016488	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	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
Autism	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Neuroblastoma	19536264	CNVD
Epilepsy	20923578	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Colorectal cancer	20459617	CNVD
Osteosarcoma	19286668	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
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Lung squamous cell carcinoma	20842114	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146954000-146963000	Weak transcription	Liver	Liver
2	chr1:146962400-146968600	Weak transcription	Psoas Muscle	Psoas
3	chr1:146963000-146964400	Enhancers	Liver	Liver
4	chr1:146964400-146968400	Weak transcription	Liver	Liver
5	chr1:146966600-146966800	Enhancers	Brain Hippocampus Middle	brain
6	chr1:146966800-146967000	Enhancers	Fetal Muscle Trunk	muscle
7	chr1:146966800-146967200	Flanking Active TSS	Brain Hippocampus Middle	brain
8	chr1:146966800-146967400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:146966800-146967400	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr1:146966800-146970400	Enhancers	Fetal Muscle Leg	muscle
11	chr1:146967000-146967200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr1:146967000-146967200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:146967000-146967200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:146967000-146967200	Enhancers	Brain Angular Gyrus	brain
15	chr1:146967000-146967200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:146967000-146967200	Enhancers	Fetal Lung	lung
17	chr1:146967000-146967200	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr1:146967000-146967400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr1:146967000-146967400	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr1:146967000-146967400	Enhancers	Aorta	Aorta
21	chr1:146967000-146967400	Enhancers	Brain Cingulate Gyrus	brain
22	chr1:146967000-146967400	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr1:146967000-146967400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr1:146967000-146967800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr1:146967000-146968000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr1:146967000-146969400	Enhancers	Adipose Nuclei	Adipose
27	chr1:146967000-146969400	Enhancers	Fetal Heart	heart
28	chr1:146967200-146967400	Active TSS	Stomach Smooth Muscle	stomach
29	chr1:146967200-146967800	Weak transcription	Fetal Lung	lung
30	chr1:146967200-146968400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:146967200-146968600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:146967200-146968600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:146967200-146968600	Weak transcription	Brain Hippocampus Middle	brain
34	chr1:146967200-146968800	Enhancers	Ovary	ovary
35	chr1:146967200-146969200	Weak transcription	Brain Angular Gyrus	brain
36	chr1:146967400-146967800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:146967400-146967800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr1:146967400-146968400	Weak transcription	Aorta	Aorta
39	chr1:146967400-146968400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr1:146967400-146968400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr1:146967400-146968600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr1:146967600-146968800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:146967800-146968200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr1:146967800-146969200	Enhancers	Fetal Lung	lung
45	chr1:146967800-146969400	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr1:146967800-146969400	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr1:146968000-146968600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:146968000-146968800	Enhancers	Fetal Muscle Trunk	muscle
49	chr1:146968000-146968800	Enhancers	Spleen	Spleen
50	chr1:146968000-146969000	Enhancers	Cortex derived primary cultured neurospheres	brain

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