Variant report

Variant	esv3420395
Chromosome Location	chr1:154541828-154546226
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:154543266..154545245-chr1:154578087..154580647,2	MCF-7	breast:
2	chr1:154543850..154545419-chr1:154550254..154552123,2	MCF-7	breast:
3	chr1:154540365..154542242-chr1:154542275..154545035,2	K562	blood:
4	chr1:154544363..154545938-chr1:154959372..154962138,2	MCF-7	breast:
5	chr1:154544232..154546095-chr17:57969748..57971747,2	MCF-7	breast:
6	chr1:154538791..154541936-chr1:154544777..154546991,3	K562	blood:
7	chr1:154546124..154548588-chr1:154550087..154552414,2	K562	blood:
8	chr1:154529625..154533132-chr1:154541888..154544780,3	K562	blood:
9	chr1:154540365..154542242-chr1:154542275..154545035,2	K562	blood:
10	chr1:154540748..154542499-chr1:154672935..154674987,2	MCF-7	breast:
11	chr1:154376947..154379185-chr1:154542963..154545264,2	MCF-7	breast:
12	chr1:154539579..154545447-chr1:154547241..154552773,6	K562	blood:
13	chr1:154533282..154535465-chr1:154542257..154543764,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000228013	chromatin interactions
ENSG00000108423	chromatin interactions
ENSG00000160712	chromatin interactions
ENSG00000160688	chromatin interactions
ENSG00000160716	chromatin interactions
ENSG00000108443	chromatin interactions
ENSG00000160714	chromatin interactions
ENSG00000233875	chromatin interactions

Extended variants
information (count: 234 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:234 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8192484	chr1:154541839-154541840	Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs538787535	chr1:154541886-154541887	Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs369030769	chr1:154541900-154541901	Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs372586598	chr1:154541915-154541916	Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs200114372	chr1:154541916-154541917	Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs76005585	chr1:154541947-154541948	Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs71651692	chr1:154541950-154541951	Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs143402032	chr1:154541951-154541952	Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs199919525	chr1:154541961-154541962	Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs145926853	chr1:154541964-154541965	Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs200729328	chr1:154541971-154541972	Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs376396230	chr1:154541972-154541973	Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs200223952	chr1:154541974-154541975	Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs141689121	chr1:154541978-154541979	Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs71651693	chr1:154541982-154541983	Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs199999862	chr1:154541995-154541996	Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs201171352	chr1:154541996-154541997	Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs149921259	chr1:154542023-154542024	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs201747045	chr1:154542026-154542027	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs3926124	chr1:154542092-154542093	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs200196583	chr1:154542093-154542094	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs201105131	chr1:154542097-154542098	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs377401273	chr1:154542104-154542105	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs534209387	chr1:154542105-154542106	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs202075932	chr1:154542113-154542114	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs200235469	chr1:154542130-154542131	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs185234396	chr1:154542155-154542156	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs577475507	chr1:154542212-154542213	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs55698310	chr1:154542215-154542216	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs8192485	chr1:154542216-154542217	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs200857531	chr1:154542243-154542244	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs202228320	chr1:154542250-154542251	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs200459257	chr1:154542252-154542253	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs555035263	chr1:154542253-154542254	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs201514937	chr1:154542255-154542256	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs199548935	chr1:154542258-154542259	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs368583539	chr1:154542279-154542280	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs200382306	chr1:154542293-154542294	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs201218199	chr1:154542296-154542297	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs190374968	chr1:154542319-154542320	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs374367624	chr1:154542327-154542328	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs543976044	chr1:154542346-154542347	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs181644469	chr1:154542349-154542350	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs560525383	chr1:154542440-154542441	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs186746807	chr1:154542546-154542547	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs372037375	chr1:154542641-154542642	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs74119104	chr1:154542693-154542694	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs201635721	chr1:154542700-154542701	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs532350137	chr1:154542706-154542707	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs199781569	chr1:154542714-154542715	Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	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
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	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
Non-syndromic sensorineural hearing loss	15273396	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
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
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
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
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Liver carcinoma	19366792	CNVD
Neuroblastoma	18923191	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154540800-154547000	Weak transcription	Brain Substantia Nigra	brain
2	chr1:154540800-154547400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:154540800-154550600	Weak transcription	Gastric	stomach
4	chr1:154540800-154550800	Weak transcription	HMEC	breast
5	chr1:154540800-154551600	Weak transcription	Pancreas	Pancrea
6	chr1:154541000-154542000	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
7	chr1:154541000-154547200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:154541000-154549800	Weak transcription	Right Atrium	heart
9	chr1:154541200-154543600	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:154541200-154550800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:154541400-154543000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:154541400-154543600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:154541400-154543600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:154541400-154543800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:154541400-154546800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:154541600-154542600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:154541600-154542600	Weak transcription	Brain Anterior Caudate	brain
18	chr1:154541600-154542800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:154541600-154543200	Weak transcription	Brain Angular Gyrus	brain
20	chr1:154541600-154543800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:154541600-154543800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:154541600-154547200	Weak transcription	Fetal Brain Male	brain
23	chr1:154541800-154542000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:154541800-154542000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:154541800-154542000	Weak transcription	Fetal Brain Female	brain
26	chr1:154541800-154543600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr1:154541800-154545400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:154542000-154542200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:154542000-154542200	Genic enhancers	Brain Germinal Matrix	brain
30	chr1:154542000-154547000	Strong transcription	Fetal Brain Female	brain
31	chr1:154542200-154545000	Strong transcription	Brain Germinal Matrix	brain
32	chr1:154542200-154546000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:154542600-154542800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:154542600-154544400	Strong transcription	Brain Anterior Caudate	brain
35	chr1:154542600-154545800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr1:154542800-154546200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:154542800-154551600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr1:154543000-154543200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:154543000-154545200	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr1:154543200-154544200	Strong transcription	Brain Angular Gyrus	brain
41	chr1:154543600-154543800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:154543600-154544400	Strong transcription	Brain Hippocampus Middle	brain
43	chr1:154543600-154544400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:154543600-154544400	Strong transcription	Pancreatic Islets	Pancreatic Islet
45	chr1:154543600-154544600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:154543800-154544400	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr1:154543800-154544400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:154543800-154544400	Strong transcription	Brain Cingulate Gyrus	brain
49	chr1:154543800-154544800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:154544000-154544400	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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