Variant report

Variant	nsv511736
Chromosome Location	chr1:224245309-224248054
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:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:224247694..224250426-chr1:224266425..224268055,2	K562	blood:
2	chr1:224233420..224235277-chr1:224246228..224248630,2	K562	blood:
3	chr1:224239914..224241769-chr1:224243528..224246178,2	K562	blood:
4	chr1:224247719..224250710-chr1:224272098..224273883,2	K562	blood:
5	chr1:223958981..223961667-chr1:224244026..224246906,2	K562	blood:
6	chr1:224237229..224240186-chr1:224247839..224250746,3	K562	blood:
7	chr1:224244471..224246198-chr1:224247592..224249226,2	K562	blood:
8	chr1:224240269..224242100-chr1:224243386..224246178,2	K562	blood:
9	chr1:224238624..224240170-chr1:224243287..224246232,2	K562	blood:
10	chr1:223886897..223889669-chr1:224243550..224246462,2	K562	blood:
11	chr1:224244471..224246198-chr1:224247592..224249226,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXO28-3	chr1:224247660-224247846	NONHSAT009770
2	lnc-FBXO28-3	chr1:224246570-224246652	NONHSAT009770

No data

Variant related genes	Relation type
ENSG00000162909	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374334380	chr1:224245361-224245362	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs548765045	chr1:224245363-224245364	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs567482727	chr1:224245376-224245377	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs368270493	chr1:224245382-224245383	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs112032132	chr1:224245409-224245410	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs186958942	chr1:224245412-224245413	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs138633825	chr1:224245479-224245480	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs192104385	chr1:224245485-224245486	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs184090691	chr1:224245486-224245487	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs149337103	chr1:224245504-224245505	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs188592007	chr1:224245507-224245508	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs371549266	chr1:224245508-224245509	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs191523800	chr1:224245543-224245544	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs576609719	chr1:224245569-224245570	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs144544568	chr1:224245594-224245595	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs565352301	chr1:224245602-224245603	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs182149724	chr1:224245619-224245620	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs541018149	chr1:224245628-224245629	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs559368180	chr1:224245637-224245638	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs7552832	chr1:224245754-224245755	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs116781717	chr1:224245800-224245801	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs561044598	chr1:224245807-224245808	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs187311159	chr1:224245817-224245818	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs148457108	chr1:224245818-224245819	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs571283126	chr1:224245843-224245844	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs538775971	chr1:224245844-224245845	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs145397912	chr1:224245909-224245910	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs191711578	chr1:224245933-224245934	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs565705923	chr1:224245934-224245935	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs536929963	chr1:224245965-224245966	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs4653521	chr1:224245966-224245967	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs576685977	chr1:224245982-224245983	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs147277766	chr1:224246002-224246003	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs185344458	chr1:224246017-224246018	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs115287084	chr1:224246051-224246052	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs541157050	chr1:224246077-224246078	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs140676755	chr1:224246084-224246085	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs144601390	chr1:224246161-224246162	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs190191769	chr1:224246169-224246170	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs561192851	chr1:224246199-224246200	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs531520016	chr1:224246218-224246219	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs147884016	chr1:224246220-224246221	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs140601813	chr1:224246243-224246244	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs554622511	chr1:224246298-224246299	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs532221864	chr1:224246326-224246327	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs150072123	chr1:224246389-224246390	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs192818979	chr1:224246392-224246393	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs529684764	chr1:224246393-224246394	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs547879827	chr1:224246407-224246408	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs570289197	chr1:224246420-224246421	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Breast cancer	22522925	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224241000-224245400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:224241000-224245400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:224241000-224245400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:224241200-224245400	Weak transcription	HSMM	muscle
5	chr1:224241200-224245400	Weak transcription	NH-A	brain
6	chr1:224241200-224245600	Weak transcription	NHDF-Ad	bronchial
7	chr1:224241800-224245600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:224244400-224245600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:224244400-224247000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:224244800-224245800	Enhancers	HepG2	liver
11	chr1:224244800-224248000	Enhancers	HUVEC	blood vessel
12	chr1:224245000-224245600	Enhancers	NHEK	skin
13	chr1:224245000-224246600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr1:224245000-224246800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:224245000-224247000	Enhancers	HMEC	breast
16	chr1:224245200-224245600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:224245200-224245600	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr1:224245200-224245800	Enhancers	Duodenum Mucosa	Duodenum
19	chr1:224245200-224246000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:224245400-224245800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:224245400-224245800	Enhancers	Fetal Intestine Large	intestine
22	chr1:224245400-224245800	Enhancers	Stomach Mucosa	stomach
23	chr1:224245400-224245800	Enhancers	K562	blood
24	chr1:224245400-224246400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:224245400-224246400	Enhancers	HSMM	muscle
26	chr1:224245400-224246600	Enhancers	NH-A	brain
27	chr1:224245400-224246800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:224245600-224245800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:224245600-224245800	Enhancers	Gastric	stomach
30	chr1:224245600-224246000	Enhancers	Fetal Intestine Small	intestine
31	chr1:224245600-224246000	Enhancers	NHDF-Ad	bronchial
32	chr1:224245600-224246000	Flanking Active TSS	NHEK	skin
33	chr1:224245600-224246400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:224245600-224250600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr1:224245800-224246400	Weak transcription	Gastric	stomach
36	chr1:224245800-224247600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr1:224245800-224247800	Weak transcription	K562	blood
38	chr1:224245800-224249200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:224245800-224251000	Weak transcription	Fetal Intestine Large	intestine
40	chr1:224245800-224251400	Weak transcription	Stomach Mucosa	stomach
41	chr1:224246000-224246800	Enhancers	NHEK	skin
42	chr1:224246400-224246600	Enhancers	Gastric	stomach
43	chr1:224246400-224248600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:224246400-224253400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:224246600-224251400	Weak transcription	Gastric	stomach
46	chr1:224246800-224248000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:224246800-224251400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:224247000-224249000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:224247000-224252200	Weak transcription	HMEC	breast
50	chr1:224247600-224247800	Enhancers	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links