Variant report

Variant	nsv946527
Chromosome Location	chr1:180229568-180231656
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180224667..180226177-chr1:180228800..180230829,2	K562	blood:
2	chr1:180221132..180228794-chr1:180228825..180237340,13	K562	blood:
3	chr1:180226912..180229884-chr1:180233692..180235253,2	K562	blood:
4	chr1:180226218..180228794-chr1:180228958..180230849,2	K562	blood:
5	chr1:180228697..180230849-chr1:180243270..180244817,2	K562	blood:
6	chr1:180197410..180201386-chr1:180231377..180237159,7	MCF-7	breast:
7	chr1:180194875..180197086-chr1:180228281..180230421,3	MCF-7	breast:
8	chr1:180229024..180231831-chr1:180234327..180236591,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000121454	chromatin interactions
ENSG00000230124	chromatin interactions

Extended variants
information (count: 77 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541317823	chr1:180229594-180229595	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs561539156	chr1:180229596-180229597	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs697262	chr1:180229602-180229603	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs543604049	chr1:180229634-180229635	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs697261	chr1:180229642-180229643	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs77651116	chr1:180229648-180229649	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs78673033	chr1:180229723-180229724	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs559460059	chr1:180229791-180229792	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs528390062	chr1:180229871-180229872	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs548228460	chr1:180229912-180229913	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs113519213	chr1:180229914-180229915	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs537272917	chr1:180229973-180229974	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs550780741	chr1:180229978-180229979	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs570579523	chr1:180229985-180229986	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs116971488	chr1:180229999-180230000	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs72712990	chr1:180230054-180230055	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs191226037	chr1:180230078-180230079	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs704336	chr1:180230081-180230082	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs111390272	chr1:180230154-180230155	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs141353549	chr1:180230167-180230168	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs548879692	chr1:180230172-180230173	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs74933329	chr1:180230188-180230189	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs543642205	chr1:180230240-180230241	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs563504642	chr1:180230266-180230267	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs182308176	chr1:180230275-180230276	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs704335	chr1:180230295-180230296	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs559789181	chr1:180230296-180230297	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs528523785	chr1:180230309-180230310	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs148006287	chr1:180230310-180230311	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs371617430	chr1:180230318-180230319	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs74132422	chr1:180230331-180230332	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs530793849	chr1:180230356-180230357	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs376531953	chr1:180230359-180230360	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs570615980	chr1:180230413-180230414	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs72712991	chr1:180230419-180230420	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs546415964	chr1:180230421-180230422	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs566556435	chr1:180230437-180230438	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs535131796	chr1:180230452-180230453	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs34063422	chr1:180230534-180230535	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs554925881	chr1:180230535-180230536	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs568429981	chr1:180230628-180230629	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs537319424	chr1:180230672-180230673	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs560085986	chr1:180230680-180230681	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs74132423	chr1:180230691-180230692	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs115112163	chr1:180230713-180230714	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs150084224	chr1:180230763-180230764	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs35722722	chr1:180230769-180230770	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs191840268	chr1:180230834-180230835	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs357053	chr1:180230872-180230873	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs577761257	chr1:180230923-180230924	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
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
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180222600-180239200	Weak transcription	Gastric	stomach
2	chr1:180223800-180234400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:180224000-180234400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:180224600-180234200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:180229200-180230200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:180229400-180234000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:180229400-180240400	Weak transcription	Right Atrium	heart
8	chr1:180229600-180229800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:180229800-180230200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr1:180229800-180232800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:180230200-180231000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:180230400-180230600	Bivalent Enhancer	Placenta	Placenta
13	chr1:180230400-180230800	Enhancers	Pancreas	Pancrea
14	chr1:180230600-180231000	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr1:180230600-180232200	Bivalent Enhancer	Fetal Stomach	stomach
16	chr1:180230800-180231000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:180230800-180231000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr1:180230800-180231000	Enhancers	HSMMtube	muscle
19	chr1:180230800-180231200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:180230800-180232000	Weak transcription	Pancreas	Pancrea
21	chr1:180230800-180232200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr1:180230800-180232200	Enhancers	Colon Smooth Muscle	Colon
23	chr1:180231000-180231800	Weak transcription	HSMMtube	muscle
24	chr1:180231000-180232000	Enhancers	Fetal Kidney	kidney
25	chr1:180231000-180234000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:180231000-180257200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr1:180231200-180231800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:180231200-180232000	Enhancers	A549	lung
29	chr1:180231400-180231600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:180231400-180231600	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr1:180231400-180231600	Enhancers	Ovary	ovary
32	chr1:180231400-180231600	Flanking Active TSS	Rectal Smooth Muscle	rectum
33	chr1:180231600-180232200	Enhancers	Rectal Smooth Muscle	rectum

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