Variant report

Variant	nsv873228
Chromosome Location	chr1:225665284-225687981
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:225662746..225665144-chr1:225672666..225674544,2	MCF-7	breast:
2	chr1:225665630..225667137-chr1:226308801..226311216,2	K562	blood:
3	chr1:225668772..225671386-chr1:225671515..225673412,2	K562	blood:
4	chr1:225668734..225669518-chr1:226308467..226309148,2	K562	blood:
5	chr1:225668021..225670369-chr1:226148124..226150238,2	MCF-7	breast:
6	chr1:225668772..225671386-chr1:225671515..225673412,2	K562	blood:
7	chr1:225666757..225668833-chr1:226110294..226111958,2	MCF-7	breast:
8	chr1:225674280..225677221-chr1:225997663..226000316,2	MCF-7	breast:
9	chr1:225652545..225654089-chr1:225665937..225667726,2	K562	blood:
10	chr1:225667455..225673405-chr1:225674170..225678275,6	MCF-7	breast:
11	chr1:225668364..225669220-chr1:226309046..226309674,2	MCF-7	breast:
12	chr1:225664480..225667161-chr1:225903900..225905865,2	K562	blood:
13	chr1:225662561..225663268-chr1:225685078..225685619,2	K562	blood:
14	chr1:225664099..225665880-chr1:226167899..226170601,2	K562	blood:
15	chr1:225668607..225669253-chr1:226163366..226164317,2	MCF-7	breast:
16	chr1:225686982..225689320-chr1:225964805..225966549,2	MCF-7	breast:
17	chr1:225667455..225673405-chr1:225674170..225678275,6	MCF-7	breast:
18	chr1:225668756..225671445-chr1:225674981..225676551,3	K562	blood:
19	chr1:225684757..225686780-chr1:225840497..225842307,2	MCF-7	breast:
20	chr1:225631906..225634098-chr1:225666664..225668819,2	K562	blood:
21	chr1:225682780..225684982-chr1:225687181..225690046,2	MCF-7	breast:
22	chr1:225660270..225662835-chr1:225667398..225670221,2	MCF-7	breast:
23	chr1:225674187..225676643-chr1:225684973..225688505,3	K562	blood:
24	chr1:225674187..225676643-chr1:225684973..225688505,3	K562	blood:
25	chr1:225667880..225669928-chr1:225980112..225982880,2	K562	blood:
26	chr1:225668756..225671445-chr1:225674981..225676551,3	K562	blood:

No data

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

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

Variant related genes	Relation type
ENSG00000143811	chromatin interactions
ENSG00000154380	chromatin interactions
ENSG00000143819	chromatin interactions
ENSG00000234476	chromatin interactions
ENSG00000143742	chromatin interactions

Extended variants
information (count: 854 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7515963	chr1:225665284-225665285	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs547467868	chr1:225665287-225665288	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs367721920	chr1:225665335-225665336	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs530141789	chr1:225665339-225665340	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs548623406	chr1:225665382-225665383	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs371471137	chr1:225665393-225665394	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs78493289	chr1:225665395-225665396	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs35971678	chr1:225665435-225665436	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs200383182	chr1:225665443-225665444	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs558856175	chr1:225665468-225665469	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs36124848	chr1:225665478-225665479	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs562314135	chr1:225665490-225665491	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs570799288	chr1:225665505-225665506	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs115815727	chr1:225665531-225665532	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs79431135	chr1:225665649-225665650	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs6676201	chr1:225665694-225665695	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs541573145	chr1:225665706-225665707	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs6678806	chr1:225665749-225665750	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs3904736	chr1:225665807-225665808	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs192031769	chr1:225665821-225665822	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs3904737	chr1:225665841-225665842	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs545020347	chr1:225665860-225665861	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs35250604	chr1:225665901-225665902	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs540475481	chr1:225665905-225665906	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs559498876	chr1:225665912-225665913	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs530071900	chr1:225665916-225665917	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs548415044	chr1:225665920-225665921	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs563426025	chr1:225665929-225665930	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs531049708	chr1:225665933-225665934	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs375603082	chr1:225665962-225665963	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs552349420	chr1:225665988-225665989	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs375232880	chr1:225666071-225666072	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs147114353	chr1:225666118-225666119	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs535015346	chr1:225666141-225666142	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs138452527	chr1:225666175-225666176	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs564997379	chr1:225666201-225666202	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs115254918	chr1:225666240-225666241	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs78202750	chr1:225666243-225666244	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs369986295	chr1:225666246-225666247	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs369189756	chr1:225666251-225666252	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs186759697	chr1:225666261-225666262	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs572005350	chr1:225666283-225666284	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs575404098	chr1:225666299-225666300	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs539693276	chr1:225666325-225666326	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs149619504	chr1:225666356-225666357	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs114168738	chr1:225666389-225666390	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs540173444	chr1:225666393-225666394	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs560454392	chr1:225666394-225666395	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs116415296	chr1:225666401-225666402	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs374441111	chr1:225666411-225666412	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	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:561 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225655600-225677000	Weak transcription	Right Atrium	heart
2	chr1:225660600-225666200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:225660800-225666200	Enhancers	Primary T cells fromperipheralblood	blood
4	chr1:225660800-225666200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr1:225660800-225666800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:225661000-225666200	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr1:225661000-225666200	Enhancers	Fetal Thymus	thymus
8	chr1:225662000-225667000	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr1:225662200-225671800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:225662600-225671800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:225663000-225665400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:225663200-225665400	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:225663200-225665400	Weak transcription	NHEK	skin
14	chr1:225663200-225665600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:225663200-225665600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:225663200-225665600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr1:225663200-225665600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr1:225663200-225665600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:225663200-225665600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:225663200-225665600	Weak transcription	Fetal Stomach	stomach
21	chr1:225663200-225665600	Weak transcription	Spleen	Spleen
22	chr1:225663200-225665600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr1:225663200-225665800	Weak transcription	HSMMtube	muscle
24	chr1:225663200-225666200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr1:225663200-225668600	Weak transcription	Fetal Intestine Large	intestine
26	chr1:225663200-225668600	Weak transcription	Pancreas	Pancrea
27	chr1:225663200-225668600	Weak transcription	Stomach Mucosa	stomach
28	chr1:225663200-225668800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr1:225663200-225668800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:225663200-225669800	Weak transcription	Ovary	ovary
31	chr1:225663200-225670200	Weak transcription	Osteobl	bone
32	chr1:225663200-225683800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:225663200-225686400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:225663200-225696400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr1:225663400-225665400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:225663400-225665400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr1:225663400-225665400	Weak transcription	Esophagus	oesophagus
38	chr1:225663400-225665400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr1:225663400-225665400	Weak transcription	Placenta	Placenta
40	chr1:225663400-225665600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:225663400-225665600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr1:225663400-225667400	Weak transcription	Fetal Brain Male	brain
43	chr1:225663400-225668400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr1:225663400-225668800	Weak transcription	Brain Germinal Matrix	brain
45	chr1:225663400-225668800	Weak transcription	Fetal Brain Female	brain
46	chr1:225663400-225668800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr1:225663400-225669000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr1:225663400-225669600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr1:225663400-225686000	Weak transcription	A549	lung
50	chr1:225663800-225665600	Bivalent Enhancer	HepG2	liver

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