Variant report

Variant	nsv873229
Chromosome Location	chr1:225668031-225685928
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:225674187..225676643-chr1:225684973..225688505,3	K562	blood:
2	chr1:225682780..225684982-chr1:225687181..225690046,2	MCF-7	breast:
3	chr1:225668364..225669220-chr1:226309046..226309674,2	MCF-7	breast:
4	chr1:225667455..225673405-chr1:225674170..225678275,6	MCF-7	breast:
5	chr1:225668756..225671445-chr1:225674981..225676551,3	K562	blood:
6	chr1:225668772..225671386-chr1:225671515..225673412,2	K562	blood:
7	chr1:225631906..225634098-chr1:225666664..225668819,2	K562	blood:
8	chr1:225684757..225686780-chr1:225840497..225842307,2	MCF-7	breast:
9	chr1:225668734..225669518-chr1:226308467..226309148,2	K562	blood:
10	chr1:225668021..225670369-chr1:226148124..226150238,2	MCF-7	breast:
11	chr1:225668607..225669253-chr1:226163366..226164317,2	MCF-7	breast:
12	chr1:225662561..225663268-chr1:225685078..225685619,2	K562	blood:
13	chr1:225668756..225671445-chr1:225674981..225676551,3	K562	blood:
14	chr1:225668772..225671386-chr1:225671515..225673412,2	K562	blood:
15	chr1:225674187..225676643-chr1:225684973..225688505,3	K562	blood:
16	chr1:225674280..225677221-chr1:225997663..226000316,2	MCF-7	breast:
17	chr1:225662746..225665144-chr1:225672666..225674544,2	MCF-7	breast:
18	chr1:225667880..225669928-chr1:225980112..225982880,2	K562	blood:
19	chr1:225660270..225662835-chr1:225667398..225670221,2	MCF-7	breast:
20	chr1:225666757..225668833-chr1:226110294..226111958,2	MCF-7	breast:
21	chr1:225667455..225673405-chr1:225674170..225678275,6	MCF-7	breast:

No data

(count:5 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	ENAH	hsa-miR-124-3p	chr1:225674888-225674882
2	ENAH	hsa-miR-181a-5p	chr1:225682671-225682665
3	ENAH	hsa-miR-124-3p	chr1:225683220-225683214
4	ENAH	hsa-miR-375	chr1:225684946-225684940
5	ENAH	hsa-miR-181a-5p	chr1:225682791-225682784

Variant related genes	Relation type
ENSG00000143819	chromatin interactions
ENSG00000154380	chromatin interactions
ENSG00000143811	chromatin interactions

Extended variants
information (count: 663 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:663 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10799316	chr1:225668031-225668032	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs183405061	chr1:225668057-225668058	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs534316557	chr1:225668067-225668068	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs555552081	chr1:225668073-225668074	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs574313155	chr1:225668083-225668084	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs116524289	chr1:225668153-225668154	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs563221618	chr1:225668241-225668242	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs17559587	chr1:225668285-225668286	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs545674926	chr1:225668292-225668293	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs560108196	chr1:225668316-225668317	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs548275286	chr1:225668365-225668366	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs549088361	chr1:225668372-225668373	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs1222435	chr1:225668464-225668465	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs531440421	chr1:225668504-225668505	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs568580495	chr1:225668523-225668524	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs10915840	chr1:225668524-225668525	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs145548277	chr1:225668549-225668550	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs112784674	chr1:225668566-225668567	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs547342740	chr1:225668570-225668571	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs10915841	chr1:225668586-225668587	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs533920794	chr1:225668616-225668617	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs188287959	chr1:225668624-225668625	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs574172431	chr1:225668753-225668754	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs137978326	chr1:225668770-225668771	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs372882736	chr1:225668772-225668773	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs75601149	chr1:225668782-225668783	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs578191469	chr1:225668894-225668895	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs545705838	chr1:225668903-225668904	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs558691023	chr1:225668905-225668906	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs567760831	chr1:225668958-225668959	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs560599239	chr1:225669005-225669006	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs193200274	chr1:225669048-225669049	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs184705177	chr1:225669051-225669052	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs560693819	chr1:225669069-225669070	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs571143497	chr1:225669079-225669080	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs145970787	chr1:225669113-225669114	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs114537166	chr1:225669175-225669176	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs564755766	chr1:225669199-225669200	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs368665485	chr1:225669218-225669219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532148222	chr1:225669236-225669237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547698462	chr1:225669258-225669259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549963754	chr1:225669265-225669266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534240234	chr1:225669298-225669299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147051584	chr1:225669317-225669318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535574835	chr1:225669354-225669355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189874444	chr1:225669421-225669422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538357107	chr1:225669434-225669435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569982989	chr1:225669438-225669439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114844140	chr1:225669447-225669448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571895679	chr1:225669496-225669497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:401 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225655600-225677000	Weak transcription	Right Atrium	heart
2	chr1:225662200-225671800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:225662600-225671800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:225663200-225668600	Weak transcription	Fetal Intestine Large	intestine
5	chr1:225663200-225668600	Weak transcription	Pancreas	Pancrea
6	chr1:225663200-225668600	Weak transcription	Stomach Mucosa	stomach
7	chr1:225663200-225668800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:225663200-225668800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:225663200-225669800	Weak transcription	Ovary	ovary
10	chr1:225663200-225670200	Weak transcription	Osteobl	bone
11	chr1:225663200-225683800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:225663200-225686400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:225663200-225696400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:225663400-225668400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr1:225663400-225668800	Weak transcription	Brain Germinal Matrix	brain
16	chr1:225663400-225668800	Weak transcription	Fetal Brain Female	brain
17	chr1:225663400-225668800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr1:225663400-225669000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:225663400-225669600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr1:225663400-225686000	Weak transcription	A549	lung
21	chr1:225664000-225670000	Enhancers	Primary B cells from peripheral blood	blood
22	chr1:225665200-225670400	Enhancers	Primary B cells from cord blood	blood
23	chr1:225665800-225668400	Weak transcription	Placenta	Placenta
24	chr1:225665800-225668800	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:225666000-225668600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr1:225666000-225669800	Weak transcription	Brain Anterior Caudate	brain
27	chr1:225666000-225696800	Weak transcription	Esophagus	oesophagus
28	chr1:225666200-225668600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:225666200-225668600	Weak transcription	Fetal Thymus	thymus
30	chr1:225667200-225668800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:225667400-225668800	Enhancers	Fetal Brain Male	brain
32	chr1:225667400-225670200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:225667400-225670200	Weak transcription	Aorta	Aorta
34	chr1:225667400-225684400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:225667800-225668200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:225668000-225668800	Weak transcription	Fetal Lung	lung
37	chr1:225668000-225668800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr1:225668000-225669200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:225668000-225669200	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr1:225668000-225669200	Enhancers	Spleen	Spleen
41	chr1:225668000-225669200	Enhancers	GM12878-XiMat	blood
42	chr1:225668200-225669200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:225668400-225670800	Enhancers	Duodenum Mucosa	Duodenum
44	chr1:225668600-225668800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:225668600-225669000	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr1:225668600-225669000	Enhancers	Fetal Thymus	thymus
47	chr1:225668600-225669000	Bivalent Enhancer	K562	blood
48	chr1:225668600-225669200	Enhancers	Stomach Mucosa	stomach
49	chr1:225668600-225669400	Enhancers	Primary hematopoietic stem cells	blood
50	chr1:225668600-225669800	Enhancers	Pancreas	Pancrea

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