Variant report

Variant	rs56328836
Chromosome Location	chr5:112116661-112116662
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs17135067	1.00[EUR][1000 genomes]
rs17135193	0.80[EUR][1000 genomes]
rs17285372	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17285666	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17285827	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17286230	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17290064	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17310536	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17311019	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17311096	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17357294	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17359859	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17360045	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17360289	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17369211	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17369487	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17370550	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1833560	0.80[EUR][1000 genomes]
rs55684649	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55771959	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55798475	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56052440	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56194248	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56218335	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56235416	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56320268	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56321569	0.86[EUR][1000 genomes]
rs56405915	0.87[EUR][1000 genomes]
rs57043077	1.00[EUR][1000 genomes]
rs60532731	0.87[EUR][1000 genomes]
rs73216225	0.86[EUR][1000 genomes]
rs73220038	1.00[EUR][1000 genomes]
rs73220063	0.80[EUR][1000 genomes]
rs7704566	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7728766	0.86[EUR][1000 genomes]
rs7730441	0.80[EUR][1000 genomes]
rs7730944	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv462387	chr5:112053911-112124369	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
3	nsv599393	chr5:112053911-112124369	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv1032464	chr5:112076061-112192380	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv537862	chr5:112076061-112192380	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	esv33290	chr5:112110808-112238295	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112074400-112119800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:112074400-112125600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:112074400-112128600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr5:112079600-112128200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:112079800-112128600	Weak transcription	Small Intestine	intestine
6	chr5:112081200-112128600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:112087600-112117600	Weak transcription	Gastric	stomach
8	chr5:112093400-112117400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr5:112093400-112128600	Weak transcription	Ovary	ovary
10	chr5:112093400-112128600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr5:112093400-112183800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr5:112094200-112128600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:112094200-112128800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:112095200-112122400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:112095600-112116800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:112096200-112117600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr5:112097800-112127000	Weak transcription	Esophagus	oesophagus
18	chr5:112098000-112128600	Weak transcription	HepG2	liver
19	chr5:112098200-112128600	Weak transcription	Aorta	Aorta
20	chr5:112098200-112129800	Weak transcription	Spleen	Spleen
21	chr5:112098400-112130000	Weak transcription	Fetal Heart	heart
22	chr5:112098600-112131400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr5:112098800-112122400	Weak transcription	A549	lung
24	chr5:112099600-112122200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:112100000-112152200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:112101200-112117400	Weak transcription	Pancreas	Pancrea
27	chr5:112101600-112118000	Strong transcription	Primary B cells from peripheral blood	blood
28	chr5:112102200-112120400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:112102400-112118400	Strong transcription	Dnd41	blood
30	chr5:112102400-112121000	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr5:112102600-112118400	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr5:112102800-112119000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr5:112103000-112173200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:112104400-112125600	Weak transcription	Fetal Intestine Small	intestine
35	chr5:112104600-112116800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr5:112104600-112117400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr5:112104600-112117400	Weak transcription	Lung	lung
38	chr5:112104600-112128600	Weak transcription	Colon Smooth Muscle	Colon
39	chr5:112104600-112155400	Weak transcription	Psoas Muscle	Psoas
40	chr5:112104800-112128000	Weak transcription	Hela-S3	cervix
41	chr5:112104800-112130800	Weak transcription	Stomach Mucosa	stomach
42	chr5:112105000-112128600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr5:112105000-112128600	Weak transcription	Thymus	Thymus
44	chr5:112105200-112125000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr5:112106000-112117600	Weak transcription	Right Ventricle	heart
46	chr5:112108200-112129200	Weak transcription	NH-A	brain
47	chr5:112108400-112130200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:112109000-112117600	Weak transcription	Fetal Brain Male	brain
49	chr5:112109200-112117400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr5:112109200-112120800	Strong transcription	HUES64 Cell Line	embryonic stem cell

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