Variant report

Variant	nsv946412
Chromosome Location	chr1:155204296-155207961
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:155206235-155206647	MCF-7	breast:	n/a	chr1:155206434-155206445
2	CEBPB	chr1:155206299-155206527	K562	blood:	n/a	chr1:155206434-155206445
3	CEBPB	chr1:155206294-155206577	K562	blood:	n/a	chr1:155206434-155206445
4	CEBPB	chr1:155206296-155206605	IMR90	lung:	n/a	chr1:155206434-155206445
5	CEBPB	chr1:155206222-155206628	MCF-7	breast:	n/a	chr1:155206434-155206445
6	CEBPB	chr1:155206261-155206604	Hela-S3	cervix:	n/a	chr1:155206434-155206445
7	CEBPB	chr1:155206311-155206594	A549	lung:	n/a	chr1:155206434-155206445
8	CEBPB	chr1:155206273-155206559	A549	lung:	n/a	chr1:155206434-155206445
9	CEBPB	chr1:155206303-155206598	HepG2	liver:	n/a	chr1:155206434-155206445
10	CTCF	chr1:155204610-155204714	GM12891	blood:	n/a	n/a
11	CTCF	chr1:155207372-155207445	GM20000	blood:	n/a	n/a
12	HEY1	chr1:155204287-155204790	K562	blood:	n/a	n/a
13	MYC	chr1:155205357-155205498	HUVEC	blood vessel:	n/a	n/a
14	MYC	chr1:155204919-155204964	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr1:155204717-155204921	GM12878	blood:	n/a	n/a
16	POLR2A	chr1:155206154-155206166	K562	blood:	n/a	n/a
17	POLR2A	chr1:155206849-155206909	HepG2	liver:	n/a	n/a
18	POLR2A	chr1:155206526-155206790	HepG2	liver:	n/a	n/a
19	POLR2A	chr1:155202579-155206572	PFSK-1	brain:	n/a	n/a
20	POLR2A	chr1:155204647-155205043	GM12878	blood:	n/a	n/a
21	POLR2A	chr1:155205640-155205674	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr1:155204592-155205064	GM12878	blood:	n/a	n/a
23	POLR2A	chr1:155204660-155204806	ProgFib	skin:	n/a	n/a
24	POLR2A	chr1:155203364-155205718	HepG2	liver:	n/a	n/a
25	POLR2A	chr1:155205225-155205534	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr1:155204506-155205418	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr1:155205276-155205447	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr1:155204506-155205843	GM12891	blood:	n/a	n/a
29	POLR2A	chr1:155205220-155205241	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr1:155205252-155205460	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr1:155204367-155205693	PFSK-1	brain:	n/a	n/a
32	POLR2A	chr1:155205030-155205119	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr1:155205434-155205589	GM12878	blood:	n/a	n/a
34	POLR2A	chr1:155205414-155205431	GM12878	blood:	n/a	n/a
35	POLR2A	chr1:155204498-155205090	K562	blood:	n/a	n/a
36	POLR2A	chr1:155204476-155205608	GM12878	blood:	n/a	n/a
37	POLR2A	chr1:155204429-155205998	GM12892	blood:	n/a	n/a
38	POLR2A	chr1:155204540-155205074	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr1:155205565-155205852	GM12878	blood:	n/a	n/a
40	POLR2A	chr1:155204965-155205080	GM12878	blood:	n/a	n/a
41	POLR2A	chr1:155204545-155205998	GM12892	blood:	n/a	n/a
42	POLR2A	chr1:155204634-155205062	GM12892	blood:	n/a	n/a
43	POLR2A	chr1:155205745-155205974	HepG2	liver:	n/a	n/a
44	POLR2A	chr1:155205206-155205213	K562	blood:	n/a	n/a
45	POLR2A	chr1:155203557-155204466	GM12891	blood:	n/a	n/a
46	POLR2A	chr1:155207094-155207514	HepG2	liver:	n/a	n/a
47	POLR2A	chr1:155204616-155205022	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr1:155203997-155205501	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr1:155205118-155205132	GM12878	blood:	n/a	n/a
50	POLR2A	chr1:155202970-155204458	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:155207800..155212678-chr1:155214121..155217855,6	K562	blood:
2	chr1:155196524..155199471-chr1:155205933..155208728,2	MCF-7	breast:

Variant related genes	Relation type
GBA	TF binding region
ENSG00000216109	TF binding region
ENSG00000160766	chromatin interactions
ENSG00000177628	chromatin interactions

Extended variants
information (count: 250 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:250 , 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	rs375776699	chr1:155204621-155204622	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546969073	chr1:155204670-155204671	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571503214	chr1:155204671-155204672	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368275143	chr1:155204684-155204685	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144123706	chr1:155204694-155204695	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375147122	chr1:155204757-155204758	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78297361	chr1:155204792-155204793	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs80356773	chr1:155204793-155204794	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146519305	chr1:155204797-155204798	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78016673	chr1:155204808-155204809	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536425950	chr1:155204815-155204816	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs121908301	chr1:155204848-155204849	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555079960	chr1:155204862-155204863	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573394742	chr1:155204876-155204877	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370349398	chr1:155204878-155204879	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141710041	chr1:155204885-155204886	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150246414	chr1:155204886-155204887	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374690110	chr1:155204895-155204896	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552938719	chr1:155204900-155204901	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577529715	chr1:155204901-155204902	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368832292	chr1:155204903-155204904	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372050051	chr1:155204931-155204932	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374294948	chr1:155204940-155204941	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368265276	chr1:155204968-155204969	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371668537	chr1:155204978-155204979	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs80356772	chr1:155204986-155204987	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs80356771	chr1:155204987-155204988	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189380051	chr1:155204991-155204992	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1135675	chr1:155204994-155204995	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369068553	chr1:155204996-155204997	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371779859	chr1:155204997-155204998	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375973565	chr1:155205006-155205007	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149257166	chr1:155205018-155205019	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76071730	chr1:155205022-155205023	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs199928507	chr1:155205036-155205037	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546737014	chr1:155205039-155205040	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs421016	chr1:155205043-155205044	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369966551	chr1:155205044-155205045	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75671029	chr1:155205047-155205048	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550891964	chr1:155205048-155205049	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144389406	chr1:155205055-155205056	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12747811	chr1:155205078-155205079	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144322275	chr1:155205091-155205092	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79226895	chr1:155205099-155205100	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374305067	chr1:155205116-155205117	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377666098	chr1:155205134-155205135	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569191841	chr1:155205135-155205136	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143255568	chr1:155205170-155205171	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548372618	chr1:155205180-155205181	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183510604	chr1:155205200-155205201	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
Neuroblastoma	18923191	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Dihydropyrimidine dehydrogenase deficiency	18421352	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:276 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155197000-155205800	Weak transcription	Gastric	stomach
2	chr1:155197200-155212800	Weak transcription	Small Intestine	intestine
3	chr1:155198000-155204600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:155198000-155204800	Weak transcription	Esophagus	oesophagus
5	chr1:155198000-155205000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:155198000-155205000	Weak transcription	Liver	Liver
7	chr1:155198000-155205000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:155198000-155205000	Weak transcription	Thymus	Thymus
9	chr1:155198000-155205400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr1:155198000-155205400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr1:155198000-155205600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:155198000-155205600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:155198000-155205800	Weak transcription	Primary B cells from cord blood	blood
14	chr1:155198000-155205800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:155198000-155206800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:155198000-155209600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr1:155198000-155210400	Weak transcription	A549	lung
18	chr1:155198000-155210400	Weak transcription	HMEC	breast
19	chr1:155198000-155210400	Weak transcription	HSMM	muscle
20	chr1:155198000-155210600	Weak transcription	Psoas Muscle	Psoas
21	chr1:155198000-155210800	Weak transcription	Fetal Kidney	kidney
22	chr1:155198200-155204600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:155198200-155204600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:155198200-155204600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:155198200-155204600	Weak transcription	Fetal Intestine Small	intestine
26	chr1:155198200-155204600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr1:155198200-155204800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:155198200-155204800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:155198200-155204800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr1:155198200-155205000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:155198200-155205000	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr1:155198200-155205000	Weak transcription	Adipose Nuclei	Adipose
33	chr1:155198200-155205200	Weak transcription	Brain Angular Gyrus	brain
34	chr1:155198200-155205200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr1:155198200-155205200	Weak transcription	Fetal Brain Female	brain
36	chr1:155198200-155205200	Weak transcription	Lung	lung
37	chr1:155198200-155205400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:155198200-155205400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr1:155198200-155205400	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr1:155198200-155205400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:155198200-155205400	Weak transcription	Colonic Mucosa	Colon
42	chr1:155198200-155205400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:155198200-155205400	Weak transcription	Left Ventricle	heart
44	chr1:155198200-155205600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr1:155198200-155205600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:155198200-155205600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr1:155198200-155205600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr1:155198200-155205600	Weak transcription	Fetal Intestine Large	intestine
49	chr1:155198200-155205600	Weak transcription	NHDF-Ad	bronchial
50	chr1:155198200-155205800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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