Variant report

Variant	esv1005615
Chromosome Location	chr1:161707312-161714444
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161616209..161618831-chr1:161708579..161712751,3	MCF-7	breast:
2	chr1:161709954..161712481-chr1:161715478..161718294,2	MCF-7	breast:
3	chr1:161456526..161457470-chr1:161708207..161709201,4	K562	blood:
4	chr1:161617196..161618017-chr1:161708253..161708755,2	MCF-7	breast:
5	chr1:161449421..161451787-chr1:161709912..161712102,2	K562	blood:
6	chr1:161454518..161455083-chr1:161710546..161711492,2	K562	blood:
7	chr1:161456869..161457835-chr1:161710956..161711879,5	K562	blood:
8	chr1:161454426..161456566-chr1:161713079..161714955,2	K562	blood:
9	chr1:161711472..161713403-chr1:161735064..161737185,2	K562	blood:
10	chr1:161708003..161709777-chr1:161726766..161729358,2	K562	blood:
11	chr1:161454708..161457189-chr1:161706956..161708732,2	MCF-7	breast:
12	chr1:161617105..161617670-chr1:161711057..161711617,2	MCF-7	breast:
13	chr1:161707782..161710051-chr1:161718235..161721355,3	K562	blood:
14	chr1:161617120..161618031-chr1:161708194..161708800,2	K562	blood:
15	chr1:161708210..161710025-chr1:161718512..161720124,2	K562	blood:
16	chr1:161708205..161716175-chr1:161716206..161720292,10	MCF-7	breast:
17	chr1:161713367..161715023-chr1:161717731..161720555,2	MCF-7	breast:
18	chr1:161456577..161457810-chr1:161708207..161709215,4	MCF-7	breast:
19	chr1:161703503..161707776-chr1:161717836..161724077,7	K562	blood:
20	chr1:161702286..161705058-chr1:161705873..161710501,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000081721	chromatin interactions
ENSG00000118217	chromatin interactions
ENSG00000226889	chromatin interactions

Extended variants
information (count: 288 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:288 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141701531	chr1:161707328-161707329	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs146092966	chr1:161707332-161707333	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs370703766	chr1:161707334-161707335	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs537597338	chr1:161707411-161707412	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs115792434	chr1:161707413-161707414	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs574825009	chr1:161707436-161707437	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs534230180	chr1:161707439-161707440	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs554184992	chr1:161707445-161707446	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs373219091	chr1:161707493-161707494	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs12046383	chr1:161707502-161707503	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs563138169	chr1:161707510-161707511	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs566964971	chr1:161707529-161707530	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs576585234	chr1:161707576-161707577	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs116290328	chr1:161707597-161707598	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs561079887	chr1:161707648-161707649	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs140102399	chr1:161707676-161707677	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs529739327	chr1:161707768-161707769	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs546218708	chr1:161707850-161707851	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs35376962	chr1:161707875-161707876	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs531940576	chr1:161707892-161707893	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs555648925	chr1:161707919-161707920	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs552055774	chr1:161707991-161707992	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs568808669	chr1:161708008-161708009	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs143687161	chr1:161708102-161708103	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs548063735	chr1:161708113-161708114	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs553166899	chr1:161708164-161708165	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs10799941	chr1:161708194-161708195	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs367544112	chr1:161708219-161708220	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs554275264	chr1:161708231-161708232	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs577322486	chr1:161708234-161708235	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs540791291	chr1:161708285-161708286	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs201771375	chr1:161708294-161708295	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs201240518	chr1:161708302-161708303	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs200208126	chr1:161708305-161708306	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs201525436	chr1:161708306-161708307	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs77899479	chr1:161708308-161708309	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs60801095	chr1:161708320-161708321	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs397981702	chr1:161708321-161708322	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs539800756	chr1:161708328-161708329	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs556943131	chr1:161708354-161708355	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs112297002	chr1:161708375-161708376	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs148502839	chr1:161708411-161708412	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs542445183	chr1:161708462-161708463	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs564047379	chr1:161708463-161708464	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs555660487	chr1:161708464-161708465	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs61801191	chr1:161708500-161708501	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs184970893	chr1:161708547-161708548	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs559768399	chr1:161708574-161708575	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs35440068	chr1:161708645-161708646	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs59791308	chr1:161708646-161708647	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
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
Breast cancer	21611746	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Acute lymphoblastic leukemia	19100363	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161698000-161707600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:161699200-161707400	Enhancers	HMEC	breast
3	chr1:161700200-161707800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr1:161700200-161708400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr1:161704000-161708600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr1:161704000-161713800	Weak transcription	HUVEC	blood vessel
7	chr1:161704200-161709000	Weak transcription	Placenta	Placenta
8	chr1:161705400-161708000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:161705400-161708600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr1:161705600-161707400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:161705800-161708000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr1:161706000-161707400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr1:161706200-161707400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:161706200-161707600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:161706200-161707600	Enhancers	NHDF-Ad	bronchial
16	chr1:161706600-161707400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:161706600-161707400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:161706600-161707400	Enhancers	NHEK	skin
19	chr1:161706600-161707600	Enhancers	A549	lung
20	chr1:161706800-161708400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:161706800-161708800	Enhancers	GM12878-XiMat	blood
22	chr1:161706800-161713600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:161706800-161718800	Weak transcription	NH-A	brain
24	chr1:161707000-161707400	Weak transcription	NHLF	lung
25	chr1:161707000-161708000	Enhancers	H9 Cell Line	embryonic stem cell
26	chr1:161707000-161708000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr1:161707000-161711600	Enhancers	K562	blood
28	chr1:161707200-161707400	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr1:161707200-161707400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr1:161707200-161707400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr1:161707200-161707800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr1:161707200-161707800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr1:161707200-161711400	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr1:161707400-161707600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr1:161707400-161707600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr1:161707400-161707600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr1:161707400-161707600	Enhancers	NHLF	lung
38	chr1:161707400-161707800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr1:161707400-161713000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:161707600-161707800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr1:161707600-161707800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr1:161707600-161711200	Weak transcription	A549	lung
43	chr1:161707600-161713000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:161707600-161713200	Weak transcription	NHDF-Ad	bronchial
45	chr1:161707600-161719200	Weak transcription	NHLF	lung
46	chr1:161707800-161708000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr1:161707800-161708000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr1:161707800-161708200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr1:161707800-161708200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr1:161707800-161708200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood

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