Variant report

Variant	rs56300484
Chromosome Location	chr1:193050859-193050860
allele	A/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:193028364..193030337-chr1:193047764..193050890,3	MCF-7	breast:
2	chr1:193049610..193054263-chr1:193056319..193061056,6	K562	blood:
3	chr1:193041048..193043477-chr1:193049705..193051903,2	K562	blood:
4	chr1:193043234..193047012-chr1:193048456..193052530,5	K562	blood:
5	chr1:193027700..193029443-chr1:193049758..193051511,2	K562	blood:
6	chr1:193041048..193042591-chr1:193048914..193051205,2	K562	blood:
7	chr1:193025852..193029200-chr1:193047451..193051479,6	K562	blood:
8	chr1:193050181..193054002-chr1:193074139..193076393,3	MCF-7	breast:
9	chr1:193049660..193051796-chr1:193088788..193091348,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000116750	Chromatin interaction
ENSG00000116747	Chromatin interaction
ENSG00000023572	Chromatin interaction
ENSG00000272579	Chromatin interaction
ENSG00000134371	Chromatin interaction
ENSG00000238754	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34084081	1.00[AMR][1000 genomes]
rs34147192	1.00[EUR][1000 genomes]
rs34353394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35057393	1.00[EUR][1000 genomes]
rs35070966	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35241972	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35358794	1.00[EUR][1000 genomes]
rs35995477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41306225	1.00[EUR][1000 genomes]
rs41310923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56055376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740250	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1002094	chr1:192968080-193084045	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193029400-193051800	Weak transcription	Esophagus	oesophagus
2	chr1:193029400-193051800	Weak transcription	Pancreas	Pancrea
3	chr1:193030400-193051600	Weak transcription	Colonic Mucosa	Colon
4	chr1:193033200-193067600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:193037800-193051600	Weak transcription	Ovary	ovary
6	chr1:193039200-193051800	Weak transcription	Lung	lung
7	chr1:193040400-193052000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:193040800-193051600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:193043800-193054200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:193044000-193055800	Strong transcription	Fetal Lung	lung
11	chr1:193044600-193054000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:193044800-193052400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:193044800-193056000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:193044800-193061200	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:193045000-193054600	Strong transcription	Placenta	Placenta
16	chr1:193045000-193055200	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:193045000-193055400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr1:193045000-193055600	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:193045000-193055800	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr1:193045200-193055200	Strong transcription	HSMM	muscle
21	chr1:193045200-193070200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:193045400-193055600	Strong transcription	NH-A	brain
23	chr1:193045400-193056800	Strong transcription	NHDF-Ad	bronchial
24	chr1:193045600-193054800	Strong transcription	Fetal Thymus	thymus
25	chr1:193045800-193054200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:193045800-193055400	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:193045800-193055600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:193045800-193055800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:193045800-193055800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:193045800-193055800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:193045800-193056000	Strong transcription	Dnd41	blood
32	chr1:193045800-193056200	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr1:193046000-193054000	Strong transcription	Fetal Intestine Large	intestine
34	chr1:193046000-193054400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:193046000-193054400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr1:193046000-193055200	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr1:193046000-193055600	Strong transcription	Primary B cells from peripheral blood	blood
38	chr1:193046000-193056000	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr1:193046200-193052800	Strong transcription	Fetal Kidney	kidney
40	chr1:193046400-193053000	Strong transcription	HSMMtube	muscle
41	chr1:193046400-193054400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:193046400-193055600	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr1:193046400-193055600	Strong transcription	Colon Smooth Muscle	Colon
44	chr1:193046400-193055600	Strong transcription	HUVEC	blood vessel
45	chr1:193046400-193056200	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr1:193046800-193070400	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr1:193047000-193051600	Weak transcription	Thymus	Thymus
48	chr1:193047000-193051800	Weak transcription	Gastric	stomach
49	chr1:193047000-193051800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:193047000-193051800	Weak transcription	Spleen	Spleen

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