Variant report

Variant	esv3350144
Chromosome Location	chr1:161293402-161298235
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	chr1:161297834-161297869	H1-hESC	embryonic stem cell:	n/a	chr1:161297849-161297860
2	CEBPB	chr1:161297789-161298020	K562	blood:	n/a	chr1:161297849-161297860
3	CEBPB	chr1:161296711-161296870	H1-hESC	embryonic stem cell:	n/a	chr1:161296769-161296780
4	CEBPB	chr1:161296628-161296897	IMR90	lung:	n/a	chr1:161296769-161296780
5	CEBPB	chr1:161296712-161296858	Hela-S3	cervix:	n/a	chr1:161296769-161296780
6	CEBPB	chr1:161296737-161296928	A549	lung:	n/a	chr1:161296769-161296780
7	CEBPB	chr1:161296724-161296878	HepG2	liver:	n/a	chr1:161296769-161296780
8	CEBPB	chr1:161297833-161297975	A549	lung:	n/a	chr1:161297849-161297860
9	CEBPB	chr1:161297783-161298021	HepG2	liver:	n/a	chr1:161297849-161297860
10	JUN	chr1:161296019-161296048	HepG2	liver:	n/a	chr1:161296026-161296039
11	JUND	chr1:161295976-161296097	HepG2	liver:	n/a	n/a
12	POLR2A	chr1:161293359-161293403	K562	blood:	n/a	n/a
13	POLR2A	chr1:161295685-161295932	HepG2	liver:	n/a	n/a
14	POLR2A	chr1:161295458-161295462	HepG2	liver:	n/a	n/a
15	POLR2A	chr1:161296455-161297000	HepG2	liver:	n/a	n/a
16	POLR2A	chr1:161293995-161294028	HepG2	liver:	n/a	n/a
17	POLR2A	chr1:161295193-161295436	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:161278219..161280300-chr1:161298229..161300204,2	K562	blood:
2	chr1:161284181..161285749-chr1:161296030..161299261,3	K562	blood:
3	chr1:161283899..161285656-chr1:161294707..161297555,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCP4L1-2	chr1:161298192-161298287	NONHSAT007157

Variant related genes	Relation type
SDHC	TF binding region
ENSG00000158887	chromatin interactions
ENSG00000143252	chromatin interactions

Extended variants
information (count: 195 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:195 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201286421	chr1:161293426-161293427	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs200761743	chr1:161293437-161293438	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200866859	chr1:161293480-161293481	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374646585	chr1:161293485-161293486	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200127243	chr1:161293486-161293487	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201026331	chr1:161293487-161293488	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs199581931	chr1:161293488-161293489	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371604278	chr1:161293489-161293490	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200708299	chr1:161293490-161293491	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376602547	chr1:161293492-161293493	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117507008	chr1:161293496-161293497	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545736998	chr1:161293507-161293508	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112946310	chr1:161293508-161293509	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
14	rs576153207	chr1:161293547-161293548	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541649618	chr1:161293569-161293570	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182690245	chr1:161293587-161293588	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111230586	chr1:161293642-161293643	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113273303	chr1:161293646-161293647	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
19	rs113310414	chr1:161293654-161293655	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564283923	chr1:161293687-161293688	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553912693	chr1:161293701-161293702	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs55682614	chr1:161293708-161293709	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs550206619	chr1:161293729-161293730	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188167636	chr1:161293733-161293734	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541476428	chr1:161293761-161293762	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545985789	chr1:161293781-161293782	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77118316	chr1:161293795-161293796	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77439255	chr1:161293796-161293797	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs55747162	chr1:161293804-161293805	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs549562273	chr1:161293809-161293810	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138764197	chr1:161293848-161293849	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533823134	chr1:161293853-161293854	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553911698	chr1:161293858-161293859	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377447916	chr1:161293873-161293874	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149381540	chr1:161293885-161293886	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs16832826	chr1:161293888-161293889	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs556161958	chr1:161293904-161293905	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs55961103	chr1:161293979-161293980	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs34038974	chr1:161294084-161294085	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs36069694	chr1:161294086-161294087	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144664049	chr1:161294131-161294132	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555098074	chr1:161294172-161294173	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs56411570	chr1:161294176-161294177	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs541118247	chr1:161294228-161294229	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371946690	chr1:161294262-161294263	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs199905707	chr1:161294298-161294299	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533154852	chr1:161294399-161294400	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543834857	chr1:161294401-161294402	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527363520	chr1:161294454-161294455	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs61618989	chr1:161294465-161294466	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:109)

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
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
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
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	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
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
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Idiopathic thrombocytopenic purpura	17827395	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161284800-161293600	Weak transcription	Small Intestine	intestine
2	chr1:161284800-161295000	Weak transcription	Spleen	Spleen
3	chr1:161284800-161300400	Weak transcription	Aorta	Aorta
4	chr1:161285000-161295600	Weak transcription	Gastric	stomach
5	chr1:161285000-161296600	Weak transcription	Colonic Mucosa	Colon
6	chr1:161285000-161298400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:161285000-161301800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:161285200-161293800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:161285200-161293800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:161285200-161293800	Weak transcription	Adipose Nuclei	Adipose
11	chr1:161285200-161293800	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:161285200-161293800	Weak transcription	Fetal Thymus	thymus
13	chr1:161285200-161295400	Weak transcription	Primary B cells from cord blood	blood
14	chr1:161285200-161295400	Weak transcription	Brain Substantia Nigra	brain
15	chr1:161285200-161295400	Weak transcription	Fetal Kidney	kidney
16	chr1:161285200-161295400	Weak transcription	Right Ventricle	heart
17	chr1:161285200-161299200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:161285200-161321400	Weak transcription	Stomach Mucosa	stomach
19	chr1:161285400-161293800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:161285400-161293800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:161285400-161293800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr1:161285400-161293800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:161285400-161293800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:161285400-161293800	Weak transcription	Brain Angular Gyrus	brain
25	chr1:161285400-161293800	Weak transcription	Colon Smooth Muscle	Colon
26	chr1:161285400-161293800	Weak transcription	Fetal Lung	lung
27	chr1:161285400-161293800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr1:161285400-161293800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr1:161285400-161293800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:161285400-161294600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:161285400-161294600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr1:161285400-161295200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:161285400-161295400	Weak transcription	Primary T cells from cord blood	blood
34	chr1:161285400-161295400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr1:161285400-161295400	Weak transcription	Brain Hippocampus Middle	brain
36	chr1:161285400-161295400	Weak transcription	A549	lung
37	chr1:161285400-161295800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:161285400-161296800	Weak transcription	HSMMtube	muscle
39	chr1:161285400-161298200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:161285400-161298400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr1:161285400-161299800	Weak transcription	Psoas Muscle	Psoas
42	chr1:161285400-161302000	Weak transcription	Fetal Brain Male	brain
43	chr1:161285400-161303400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr1:161285400-161303600	Weak transcription	NHLF	lung
45	chr1:161285400-161310200	Weak transcription	HUVEC	blood vessel
46	chr1:161285400-161321400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr1:161285600-161293800	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr1:161285600-161293800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:161285600-161293800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:161285600-161293800	Weak transcription	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links