Variant report

Variant	nsv945321
Chromosome Location	chr1:224344064-224347532
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:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:17)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:224301857..224303494-chr1:224346848..224349418,2	K562	blood:
2	chr1:224227960..224229471-chr1:224345929..224348019,2	K562	blood:
3	chr1:224323938..224326362-chr1:224344749..224346885,2	K562	blood:
4	chr1:224347222..224350082-chr1:224351208..224355016,4	K562	blood:
5	chr1:224344124..224346422-chr1:224442860..224444881,2	MCF-7	breast:
6	chr1:224344874..224349477-chr1:224369651..224372388,4	K562	blood:
7	chr1:224339407..224345322-chr1:224346058..224350848,8	K562	blood:
8	chr1:224339407..224345322-chr1:224346058..224350848,8	K562	blood:
9	chr1:224345362..224348351-chr1:224369651..224372388,2	K562	blood:
10	chr1:224335933..224338116-chr1:224346191..224348944,2	K562	blood:
11	chr1:224312506..224315473-chr1:224345868..224347563,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DEGS1-2	chr1:224344549-224344616	NONHSAT009774

No data

(count:17 , 50 per page) page: 1

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

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

Extended variants
information (count: 130 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571229448	chr1:224344079-224344080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376805954	chr1:224344098-224344099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184519259	chr1:224344121-224344122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527305983	chr1:224344136-224344137	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs553083408	chr1:224344159-224344160	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs574484034	chr1:224344170-224344171	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs550981735	chr1:224344178-224344179	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs556730904	chr1:224344182-224344183	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs575201790	chr1:224344218-224344219	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs386639796	chr1:224344237-224344238	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs116779295	chr1:224344238-224344239	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs528632358	chr1:224344279-224344280	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs6426161	chr1:224344421-224344422	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs6665837	chr1:224344423-224344424	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs567364934	chr1:224344440-224344441	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs569479465	chr1:224344459-224344460	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs529406196	chr1:224344489-224344490	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs550948589	chr1:224344545-224344546	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs569109916	chr1:224344636-224344637	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs34123061	chr1:224344653-224344654	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs12070670	chr1:224344654-224344655	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs576420241	chr1:224344672-224344673	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs201959348	chr1:224344703-224344704	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs66717256	chr1:224344704-224344705	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs60316057	chr1:224344718-224344719	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs570788179	chr1:224344744-224344745	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs534795142	chr1:224344755-224344756	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs553246678	chr1:224344759-224344760	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs185494104	chr1:224344812-224344813	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs538183830	chr1:224344874-224344875	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs535771512	chr1:224344900-224344901	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs535158960	chr1:224344949-224344950	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs367837380	chr1:224344977-224344978	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs557030666	chr1:224344983-224344984	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs41303994	chr1:224344996-224344997	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs7543762	chr1:224345012-224345013	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs368555348	chr1:224345024-224345025	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs558005256	chr1:224345030-224345031	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs201820347	chr1:224345044-224345045	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs201209850	chr1:224345064-224345065	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs189250147	chr1:224345067-224345068	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs562189685	chr1:224345073-224345074	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs115866173	chr1:224345109-224345110	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs544337297	chr1:224345118-224345119	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs146604018	chr1:224345163-224345164	Strong transcription Weak transcription	Chromatin interactive region miRNA target site	3 gene(s)	Overlapped CNVs	n/a
46	rs563015485	chr1:224345328-224345329	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs372247127	chr1:224345349-224345350	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs201363916	chr1:224345351-224345352	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs551834841	chr1:224345356-224345357	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs202148144	chr1:224345361-224345362	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 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:242 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224303000-224363400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:224316600-224352200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:224320200-224344800	Weak transcription	Gastric	stomach
4	chr1:224320200-224345000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:224320200-224345000	Weak transcription	HUVEC	blood vessel
6	chr1:224320400-224344800	Weak transcription	Small Intestine	intestine
7	chr1:224320400-224345000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:224320400-224345000	Weak transcription	Right Ventricle	heart
9	chr1:224320400-224345200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:224320600-224345000	Weak transcription	Pancreas	Pancrea
11	chr1:224320600-224345200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:224320800-224344200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr1:224320800-224344800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:224320800-224345200	Weak transcription	Brain Substantia Nigra	brain
15	chr1:224321000-224344200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:224321000-224344800	Weak transcription	NHLF	lung
17	chr1:224321000-224345000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:224321000-224345400	Weak transcription	Fetal Heart	heart
19	chr1:224322000-224345400	Weak transcription	HMEC	breast
20	chr1:224322600-224345000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:224325000-224351000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr1:224326200-224345200	Weak transcription	Colonic Mucosa	Colon
23	chr1:224327000-224345000	Weak transcription	GM12878-XiMat	blood
24	chr1:224327600-224356400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr1:224327800-224345000	Weak transcription	Aorta	Aorta
26	chr1:224327800-224345000	Weak transcription	Esophagus	oesophagus
27	chr1:224328000-224344600	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr1:224328200-224344800	Weak transcription	HSMMtube	muscle
29	chr1:224328200-224345000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:224329600-224345200	Weak transcription	Osteobl	bone
31	chr1:224329800-224345200	Weak transcription	Brain Anterior Caudate	brain
32	chr1:224330600-224345000	Weak transcription	Spleen	Spleen
33	chr1:224331400-224344600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr1:224332400-224345000	Weak transcription	Fetal Brain Female	brain
35	chr1:224333600-224345000	Weak transcription	Thymus	Thymus
36	chr1:224333800-224345000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:224333800-224345000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:224335800-224349600	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr1:224338400-224349200	Strong transcription	Primary B cells from peripheral blood	blood
40	chr1:224339000-224350000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:224339200-224363200	Weak transcription	Brain Angular Gyrus	brain
42	chr1:224340200-224348400	Strong transcription	Fetal Thymus	thymus
43	chr1:224340800-224347600	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr1:224340800-224348200	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:224340800-224349000	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr1:224341000-224345000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:224341000-224349800	Strong transcription	Fetal Intestine Large	intestine
48	chr1:224341400-224345000	Weak transcription	NHEK	skin
49	chr1:224341600-224349200	Strong transcription	A549	lung
50	chr1:224341800-224344800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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