Variant report

Variant	esv1792939
Chromosome Location	chr1:224336636-224351023
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:25)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:22)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:224345362..224348351-chr1:224369651..224372388,2	K562	blood:
2	chr1:224347894..224350101-chr1:224385502..224388281,2	K562	blood:
3	chr1:224307124..224309430-chr1:224336604..224339479,2	MCF-7	breast:
4	chr1:224348304..224349923-chr1:224689007..224690690,2	K562	blood:
5	chr1:224347222..224350082-chr1:224351208..224355016,4	K562	blood:
6	chr1:224312506..224315473-chr1:224345868..224347563,2	K562	blood:
7	chr1:224334889..224338444-chr1:224339776..224343070,5	K562	blood:
8	chr1:224334889..224337691-chr1:224341206..224343070,2	K562	blood:
9	chr1:224338611..224340755-chr1:224369526..224371703,2	MCF-7	breast:
10	chr1:224350776..224352461-chr1:224370770..224373033,2	K562	blood:
11	chr1:224348058..224350324-chr1:224351208..224354224,4	K562	blood:
12	chr1:224344124..224346422-chr1:224442860..224444881,2	MCF-7	breast:
13	chr1:224301857..224303494-chr1:224346848..224349418,2	K562	blood:
14	chr1:224339407..224345322-chr1:224346058..224350848,8	K562	blood:
15	chr1:224334889..224338444-chr1:224339776..224343070,5	K562	blood:
16	chr1:224227960..224229471-chr1:224345929..224348019,2	K562	blood:
17	chr1:224323938..224326362-chr1:224344749..224346885,2	K562	blood:
18	chr1:224334889..224337691-chr1:224341206..224343070,2	K562	blood:
19	chr1:224344874..224349477-chr1:224369651..224372388,4	K562	blood:
20	chr1:224347991..224350852-chr1:224376414..224378139,2	K562	blood:
21	chr1:224339407..224345322-chr1:224346058..224350848,8	K562	blood:
22	chr1:224311481..224313770-chr1:224348020..224349577,2	K562	blood:
23	chr1:224336874..224339607-chr1:224370403..224372405,2	K562	blood:
24	chr1:224335933..224338116-chr1:224346191..224348944,2	K562	blood:
25	chr1:224335933..224338116-chr1:224346191..224348944,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DEGS1-2	chr1:224341205-224341378	NONHSAT009774
2	lnc-DEGS1-2	chr1:224343814-224343978	NONHSAT009774
3	lnc-DEGS1-2	chr1:224344549-224344616	NONHSAT009774

No data

(count:22 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	FBXO28	hsa-miR-130b-3p	chr1:224348687-224348694
2	FBXO28	hsa-miR-32-5p	chr1:224345646-224345652
3	FBXO28	hsa-miR-148b-3p	chr1:224346144-224346161
4	FBXO28	hsa-miR-130b-3p	chr1:224348674-224348694
5	FBXO28	hsa-miR-19b-3p	chr1:224346649-224346655
6	FBXO28	hsa-miR-148b-3p	chr1:224346154-224346160
7	FBXO28	hsa-miR-132-3p	chr1:224345154-224345173
8	FBXO28	hsa-miR-26b-5p	chr1:224345572-224345578
9	FBXO28	hsa-miR-132-3p	chr1:224346833-224346840
10	FBXO28	hsa-miR-130b-3p	chr1:224346650-224346656
11	FBXO28	hsa-miR-130b-3p	chr1:224346690-224346696
12	FBXO28	hsa-miR-221-3p	chr1:224346806-224346828
13	FBXO28	hsa-miR-221-3p	chr1:224348534-224348556
14	FBXO28	hsa-miR-130b-3p	chr1:224346638-224346657
15	FBXO28	hsa-miR-17-5p	chr1:224348730-224348737
16	FBXO28	hsa-miR-19b-3p	chr1:224346634-224346656
17	FBXO28	hsa-miR-130b-3p	chr1:224346153-224346159
18	FBXO28	hsa-miR-17-5p	chr1:224348715-224348737
19	FBXO28	hsa-miR-148b-3p	chr1:224346678-224346698
20	FBXO28	hsa-miR-148b-3p	chr1:224346691-224346697
21	FBXO28	hsa-miR-26b-5p	chr1:224345828-224345834
22	FBXO28	hsa-miR-132-3p	chr1:224346816-224346840

Variant related genes	Relation type
ENSG00000143753	chromatin interactions
ENSG00000221406	chromatin interactions
ENSG00000143756	chromatin interactions

Extended variants
information (count: 613 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:613 , 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	rs10916370	chr1:224336636-224336637	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182238568	chr1:224336651-224336652	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186675701	chr1:224336657-224336658	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560859665	chr1:224336664-224336665	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs61826375	chr1:224336665-224336666	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543624497	chr1:224336696-224336697	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564805415	chr1:224336710-224336711	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532268170	chr1:224336723-224336724	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191160051	chr1:224336724-224336725	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370772305	chr1:224336739-224336740	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73124491	chr1:224336756-224336757	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs554278030	chr1:224336757-224336758	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183813454	chr1:224336774-224336775	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73124493	chr1:224336810-224336811	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs143029430	chr1:224336867-224336868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559143168	chr1:224336888-224336889	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs570849923	chr1:224336899-224336900	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs188406603	chr1:224336900-224336901	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs145169285	chr1:224336903-224336904	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs368093125	chr1:224336924-224336925	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs193013903	chr1:224336948-224336949	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs533783547	chr1:224336965-224336966	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs111853613	chr1:224336969-224336970	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs139486718	chr1:224336977-224336978	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs74409747	chr1:224336990-224336991	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs565624954	chr1:224336992-224336993	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs56115024	chr1:224336993-224336994	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs576312478	chr1:224337027-224337028	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs1492693	chr1:224337050-224337051	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs565127576	chr1:224337053-224337054	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs373919837	chr1:224337121-224337122	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs1492694	chr1:224337153-224337154	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs541078017	chr1:224337167-224337168	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs12024502	chr1:224337177-224337178	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs559497579	chr1:224337184-224337185	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs6681511	chr1:224337185-224337186	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs4653991	chr1:224337208-224337209	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs570350102	chr1:224337279-224337280	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs148385422	chr1:224337306-224337307	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs202059308	chr1:224337339-224337340	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs183367468	chr1:224337388-224337389	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs376740480	chr1:224337402-224337403	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs570978862	chr1:224337404-224337405	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs542203123	chr1:224337406-224337407	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs12754966	chr1:224337456-224337457	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs534915007	chr1:224337476-224337477	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs73124496	chr1:224337479-224337480	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs368543419	chr1:224337556-224337557	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs73124499	chr1:224337641-224337642	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs530951966	chr1:224337644-224337645	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Congenital diaphragmatic hernia	21085971	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
Autism	20808228	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
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD

Chromatin state (count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224303000-224363400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:224314400-224343400	Weak transcription	Psoas Muscle	Psoas
3	chr1:224316600-224352200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:224320200-224344800	Weak transcription	Gastric	stomach
5	chr1:224320200-224345000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:224320200-224345000	Weak transcription	HUVEC	blood vessel
7	chr1:224320400-224344800	Weak transcription	Small Intestine	intestine
8	chr1:224320400-224345000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:224320400-224345000	Weak transcription	Right Ventricle	heart
10	chr1:224320400-224345200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:224320600-224344000	Weak transcription	Brain Germinal Matrix	brain
12	chr1:224320600-224345000	Weak transcription	Pancreas	Pancrea
13	chr1:224320600-224345200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:224320800-224339000	Weak transcription	A549	lung
15	chr1:224320800-224343200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:224320800-224344200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:224320800-224344800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr1:224320800-224345200	Weak transcription	Brain Substantia Nigra	brain
19	chr1:224321000-224337200	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:224321000-224338400	Weak transcription	Brain Angular Gyrus	brain
21	chr1:224321000-224343200	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:224321000-224343400	Weak transcription	Fetal Brain Male	brain
23	chr1:224321000-224344200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:224321000-224344800	Weak transcription	NHLF	lung
25	chr1:224321000-224345000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:224321000-224345400	Weak transcription	Fetal Heart	heart
27	chr1:224322000-224345400	Weak transcription	HMEC	breast
28	chr1:224322400-224337600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:224322600-224345000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:224323000-224337000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:224323000-224337200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:224323000-224341000	Weak transcription	NH-A	brain
33	chr1:224323000-224343200	Weak transcription	NHDF-Ad	bronchial
34	chr1:224324200-224337000	Weak transcription	Hela-S3	cervix
35	chr1:224324200-224343800	Weak transcription	HepG2	liver
36	chr1:224325000-224351000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:224326200-224345200	Weak transcription	Colonic Mucosa	Colon
38	chr1:224326800-224344000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:224327000-224340200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:224327000-224345000	Weak transcription	GM12878-XiMat	blood
41	chr1:224327200-224341000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr1:224327400-224343200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:224327400-224343400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr1:224327400-224344000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr1:224327600-224340200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:224327600-224340800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:224327600-224356400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr1:224327800-224341400	Weak transcription	Lung	lung
49	chr1:224327800-224344000	Weak transcription	Left Ventricle	heart
50	chr1:224327800-224345000	Weak transcription	Aorta	Aorta

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