Variant report

Variant	esv993520
Chromosome Location	chr1:181014194-181028191
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:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:181019249..181020983-chr1:181058009..181059677,2	MCF-7	breast:
2	chr1:181012572..181014580-chr1:181108514..181110085,2	K562	blood:
3	chr1:181007094..181009350-chr1:181012392..181014502,3	MCF-7	breast:
4	chr1:181024374..181027453-chr1:181037985..181040156,3	K562	blood:
5	chr1:181023265..181034317-chr1:181053174..181061062,15	MCF-7	breast:
6	chr1:181010770..181016050-chr1:181055138..181060794,9	MCF-7	breast:
7	chr1:180999745..181016101-chr1:181055432..181063450,33	K562	blood:
8	chr1:181017218..181020898-chr1:181021195..181026076,5	K562	blood:
9	chr1:181004788..181008643-chr1:181010792..181015908,7	K562	blood:
10	chr1:181021868..181025682-chr1:181026451..181030589,4	K562	blood:
11	chr1:181022994..181025234-chr1:181054550..181057118,2	MCF-7	breast:
12	chr1:181021176..181023027-chr1:181056571..181059323,3	MCF-7	breast:
13	chr1:181016949..181019743-chr1:181109792..181111872,2	MCF-7	breast:
14	chr1:181023247..181026166-chr1:181056464..181059292,3	K562	blood:
15	chr1:181013057..181015311-chr1:181085662..181087249,2	MCF-7	breast:
16	chr1:181013434..181015271-chr1:181059973..181061827,2	MCF-7	breast:
17	chr1:180990073..180993369-chr1:181008815..181014232,9	MCF-7	breast:
18	chr1:181018345..181020297-chr1:181101823..181104230,2	MCF-7	breast:
19	chr1:181003253..181008679-chr1:181011469..181014538,5	MCF-7	breast:
20	chr1:181017218..181021079-chr1:181021564..181026671,6	K562	blood:
21	chr1:181020192..181022490-chr1:181056978..181059198,2	K562	blood:
22	chr1:180990438..180993857-chr1:181023050..181026810,5	MCF-7	breast:
23	chr1:181028024..181031197-chr1:181033317..181037808,5	K562	blood:
24	chr1:181021868..181025682-chr1:181026451..181030589,4	K562	blood:
25	chr1:180991280..180992792-chr1:181017084..181019691,2	K562	blood:
26	chr1:181027751..181030255-chr1:181031938..181034096,2	MCF-7	breast:
27	chr1:180982571..180984251-chr1:181018903..181020478,2	K562	blood:
28	chr1:181017309..181019403-chr1:181057324..181059301,2	K562	blood:
29	chr1:181024402..181027098-chr1:181030775..181033274,2	K562	blood:
30	chr1:181011084..181016329-chr1:181056547..181060434,6	K562	blood:
31	chr1:181002553..181005405-chr1:181020778..181022782,2	MCF-7	breast:
32	chr1:181026639..181028224-chr1:181058698..181060269,2	K562	blood:
33	chr1:181021351..181023250-chr1:181024427..181026296,2	K562	blood:
34	chr1:181021351..181023250-chr1:181024427..181026296,2	K562	blood:
35	chr1:181017218..181020898-chr1:181021195..181026076,5	K562	blood:
36	chr1:181013036..181016290-chr1:181056443..181059535,5	MCF-7	breast:
37	chr1:181017218..181021079-chr1:181021564..181026671,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000153029	chromatin interactions
ENSG00000135823	chromatin interactions
ENSG00000272198	chromatin interactions
ENSG00000162783	chromatin interactions

Extended variants
information (count: 631 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:631 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3892173	chr1:181014239-181014240	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547802609	chr1:181014242-181014243	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs552892497	chr1:181014286-181014287	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs112247220	chr1:181014405-181014406	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs79150350	chr1:181014498-181014499	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs144304046	chr1:181014501-181014502	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs183928180	chr1:181014505-181014506	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs28656223	chr1:181014517-181014518	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs187709262	chr1:181014549-181014550	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs556373251	chr1:181014553-181014554	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs568386916	chr1:181014561-181014562	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs114215775	chr1:181014577-181014578	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs554218020	chr1:181014585-181014586	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs572359594	chr1:181014589-181014590	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs373458917	chr1:181014595-181014596	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs114982467	chr1:181014601-181014602	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs575711210	chr1:181014602-181014603	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs546280673	chr1:181014614-181014615	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs189937977	chr1:181014629-181014630	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs543635972	chr1:181014706-181014707	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs561916212	chr1:181014758-181014759	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs558390372	chr1:181014776-181014777	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs573527891	chr1:181014802-181014803	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs6677925	chr1:181014817-181014818	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs144666950	chr1:181014830-181014831	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs559718159	chr1:181014874-181014875	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs147954817	chr1:181014911-181014912	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs551873303	chr1:181014977-181014978	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs564236701	chr1:181014980-181014981	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs531280804	chr1:181015007-181015008	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs550018305	chr1:181015044-181015045	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs562440233	chr1:181015061-181015062	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs535751415	chr1:181015069-181015070	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs547760367	chr1:181015083-181015084	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs140202322	chr1:181015164-181015165	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs539853806	chr1:181015202-181015203	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs557844161	chr1:181015204-181015205	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs182148794	chr1:181015254-181015255	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs537110711	chr1:181015294-181015295	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs555547565	chr1:181015295-181015296	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs113086777	chr1:181015309-181015310	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs529540132	chr1:181015313-181015314	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs12041646	chr1:181015333-181015334	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs186733006	chr1:181015348-181015349	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs191873521	chr1:181015351-181015352	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs533798288	chr1:181015355-181015356	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs531445356	chr1:181015356-181015357	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs555141448	chr1:181015361-181015362	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs549855528	chr1:181015395-181015396	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs561764113	chr1:181015426-181015427	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	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
Glioblastoma multiforme	21080181	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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	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
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	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
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:330 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:181004000-181015600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:181004000-181025400	Weak transcription	Fetal Stomach	stomach
3	chr1:181004000-181025800	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:181004000-181026200	Weak transcription	Brain Anterior Caudate	brain
5	chr1:181005600-181025800	Weak transcription	Right Ventricle	heart
6	chr1:181005600-181026000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:181005600-181026400	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:181005600-181028200	Weak transcription	Gastric	stomach
9	chr1:181005600-181028600	Weak transcription	Ovary	ovary
10	chr1:181007200-181026600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:181008600-181020800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:181008600-181031400	Weak transcription	NHLF	lung
13	chr1:181008800-181022800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:181009600-181014600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr1:181010600-181014200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr1:181010800-181024600	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:181011000-181018400	Weak transcription	HSMM	muscle
18	chr1:181011000-181025600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:181011000-181031400	Weak transcription	Osteobl	bone
20	chr1:181011200-181019200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:181011200-181024600	Weak transcription	Aorta	Aorta
22	chr1:181011800-181014200	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr1:181011800-181014200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
24	chr1:181011800-181014200	Enhancers	Duodenum Mucosa	Duodenum
25	chr1:181011800-181014400	Enhancers	Liver	Liver
26	chr1:181011800-181015000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr1:181012000-181014200	Enhancers	HMEC	breast
28	chr1:181012000-181014400	Enhancers	Stomach Mucosa	stomach
29	chr1:181012000-181014600	Enhancers	Primary T cells from cord blood	blood
30	chr1:181012000-181014800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:181012200-181014600	Enhancers	Fetal Thymus	thymus
32	chr1:181012200-181014800	Enhancers	Esophagus	oesophagus
33	chr1:181012400-181016200	Strong transcription	Spleen	Spleen
34	chr1:181012600-181014200	Enhancers	Dnd41	blood
35	chr1:181012600-181020200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:181012600-181024400	Weak transcription	Adipose Nuclei	Adipose
37	chr1:181012800-181014200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr1:181012800-181016400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr1:181012800-181016600	Strong transcription	Primary B cells from peripheral blood	blood
40	chr1:181012800-181028400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:181013000-181014200	Enhancers	Primary T cells fromperipheralblood	blood
42	chr1:181013000-181015000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:181013000-181015800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr1:181013000-181020800	Weak transcription	Small Intestine	intestine
45	chr1:181013400-181014400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr1:181013400-181014600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:181013400-181014600	Flanking Active TSS	NHEK	skin
48	chr1:181013600-181014200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:181013600-181014600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:181013600-181014800	Enhancers	Lung	lung

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