Variant report

Variant	esv3453722
Chromosome Location	chr1:156366088-156369103
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:156355235..156359660-chr1:156368406..156372426,4	MCF-7	breast:
2	chr1:156361599..156364824-chr1:156368205..156372036,4	K562	blood:
3	chr1:156353012..156356509-chr1:156369075..156371799,3	K562	blood:
4	chr1:156368248..156371401-chr1:156389139..156392955,3	K562	blood:
5	chr1:156368040..156370452-chr1:156628601..156630534,2	K562	blood:

Variant related genes	Relation type
ENSG00000125462	chromatin interactions
ENSG00000207933	chromatin interactions
ENSG00000237390	chromatin interactions

Extended variants
information (count: 139 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574599542	chr1:156366090-156366091	Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73010666	chr1:156366095-156366096	Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs564074202	chr1:156366102-156366103	Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531394207	chr1:156366139-156366140	Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191386782	chr1:156366182-156366183	Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116746625	chr1:156366193-156366194	Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376459729	chr1:156366230-156366231	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs371184939	chr1:156366239-156366240	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs73010667	chr1:156366243-156366244	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs547047331	chr1:156366259-156366260	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs12733634	chr1:156366261-156366262	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs116421840	chr1:156366277-156366278	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs59417251	chr1:156366328-156366329	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs560468525	chr1:156366400-156366401	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139024081	chr1:156366429-156366430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183608591	chr1:156366438-156366439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140694865	chr1:156366439-156366440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537241926	chr1:156366462-156366463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555929808	chr1:156366463-156366464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574009028	chr1:156366468-156366469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532401855	chr1:156366470-156366471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187913722	chr1:156366485-156366486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577599841	chr1:156366500-156366501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552650180	chr1:156366504-156366505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545042704	chr1:156366556-156366557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564037004	chr1:156366557-156366558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113219231	chr1:156366564-156366565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543214770	chr1:156366566-156366567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561937601	chr1:156366590-156366591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192532806	chr1:156366622-156366623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547448744	chr1:156366676-156366677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115787968	chr1:156366694-156366695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185500320	chr1:156366696-156366697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551439218	chr1:156366747-156366748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370892367	chr1:156366773-156366774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562891684	chr1:156366780-156366781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145245194	chr1:156366789-156366790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549276019	chr1:156366801-156366802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567869108	chr1:156366829-156366830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73010669	chr1:156366843-156366844	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs553041561	chr1:156366869-156366870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs111337192	chr1:156366893-156366894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571454990	chr1:156366905-156366906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368512475	chr1:156366911-156366912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556946120	chr1:156366922-156366923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs137954172	chr1:156366929-156366930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543725310	chr1:156366969-156366970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190076399	chr1:156366997-156366998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573766204	chr1:156366999-156367000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541266022	chr1:156367027-156367028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
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	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
Ewing''s sarcoma	21437220	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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Dihydropyrimidine dehydrogenase deficiency	18421352	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:156358600-156367600	Weak transcription	Right Atrium	heart
2	chr1:156362000-156369200	Weak transcription	Brain Angular Gyrus	brain
3	chr1:156363000-156368800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:156363000-156368800	Weak transcription	Fetal Brain Male	brain
5	chr1:156363000-156369200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:156363200-156369800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:156363200-156371000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:156363400-156369000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:156363400-156369000	Weak transcription	Fetal Brain Female	brain
10	chr1:156363600-156368800	Weak transcription	A549	lung
11	chr1:156363600-156369000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:156364000-156368200	Weak transcription	Hela-S3	cervix
13	chr1:156364200-156369200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:156364400-156369000	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:156364600-156369200	Weak transcription	Brain Substantia Nigra	brain
16	chr1:156365000-156368200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:156365000-156368800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:156365200-156368000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr1:156365200-156369000	Weak transcription	Brain Germinal Matrix	brain
20	chr1:156365400-156369000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:156366000-156366200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
22	chr1:156366000-156366400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:156366200-156369000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:156366400-156367000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:156367000-156369600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:156368000-156368400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr1:156368000-156368400	Enhancers	Primary B cells from peripheral blood	blood
28	chr1:156368000-156368400	Enhancers	Placenta	Placenta
29	chr1:156368000-156368400	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr1:156368000-156369000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr1:156368000-156369600	Enhancers	K562	blood
32	chr1:156368200-156368400	Enhancers	Hela-S3	cervix
33	chr1:156368200-156369800	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr1:156368400-156368800	Weak transcription	Hela-S3	cervix
35	chr1:156368800-156369000	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr1:156368800-156369800	Enhancers	Hela-S3	cervix
37	chr1:156368800-156370000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:156368800-156370200	Enhancers	A549	lung
39	chr1:156368800-156373000	Enhancers	Fetal Brain Male	brain
40	chr1:156369000-156369400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr1:156369000-156369400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr1:156369000-156369400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:156369000-156369600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
44	chr1:156369000-156369600	Enhancers	Brain Germinal Matrix	brain
45	chr1:156369000-156370000	Enhancers	H9 Cell Line	embryonic stem cell
46	chr1:156369000-156370200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr1:156369000-156370200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
48	chr1:156369000-156370400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:156369000-156370600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:156369000-156371400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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