Variant report

Variant	rs17134929
Chromosome Location	chr5:112122087-112122088
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112121866..112123891-chr5:112136309..112139852,3	K562	blood:
2	chr5:112121618..112123708-chr5:112137434..112139348,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11951746	1.00[AMR][1000 genomes]
rs17134881	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17135094	1.00[AMR][1000 genomes]
rs17135168	0.88[YRI][hapmap]
rs55838903	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56004167	1.00[AMR][1000 genomes]
rs56044723	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56224801	1.00[AMR][1000 genomes]
rs57076790	1.00[AMR][1000 genomes]
rs57186392	1.00[AMR][1000 genomes]
rs58659317	1.00[AMR][1000 genomes]
rs58929329	1.00[AMR][1000 genomes]
rs60959200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61667491	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6866838	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6875646	1.00[AMR][1000 genomes]
rs6876184	1.00[AMR][1000 genomes]
rs6895431	1.00[AMR][1000 genomes]
rs73214389	1.00[AMR][1000 genomes]
rs73214399	1.00[AMR][1000 genomes]
rs73216208	1.00[AMR][1000 genomes]
rs73216212	1.00[AMR][1000 genomes]
rs73216228	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73216233	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73216237	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73216295	1.00[AMR][1000 genomes]
rs73216300	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73218128	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73218131	1.00[AMR][1000 genomes]
rs73218137	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73218139	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73218152	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73220040	1.00[AMR][1000 genomes]
rs73220042	1.00[AMR][1000 genomes]
rs73220045	1.00[AMR][1000 genomes]
rs73220047	1.00[AMR][1000 genomes]
rs73788579	1.00[AMR][1000 genomes]
rs73791429	1.00[AMR][1000 genomes]
rs73791483	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7728137	1.00[AMR][1000 genomes]
rs7728636	1.00[AMR][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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112074400-112125600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:112074400-112128600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr5:112079600-112128200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:112079800-112128600	Weak transcription	Small Intestine	intestine
5	chr5:112081200-112128600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:112093400-112128600	Weak transcription	Ovary	ovary
7	chr5:112093400-112128600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:112093400-112183800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr5:112094200-112128600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:112094200-112128800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr5:112095200-112122400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:112097800-112127000	Weak transcription	Esophagus	oesophagus
13	chr5:112098000-112128600	Weak transcription	HepG2	liver
14	chr5:112098200-112128600	Weak transcription	Aorta	Aorta
15	chr5:112098200-112129800	Weak transcription	Spleen	Spleen
16	chr5:112098400-112130000	Weak transcription	Fetal Heart	heart
17	chr5:112098600-112131400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr5:112098800-112122400	Weak transcription	A549	lung
19	chr5:112099600-112122200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:112100000-112152200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:112103000-112173200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:112104400-112125600	Weak transcription	Fetal Intestine Small	intestine
23	chr5:112104600-112128600	Weak transcription	Colon Smooth Muscle	Colon
24	chr5:112104600-112155400	Weak transcription	Psoas Muscle	Psoas
25	chr5:112104800-112128000	Weak transcription	Hela-S3	cervix
26	chr5:112104800-112130800	Weak transcription	Stomach Mucosa	stomach
27	chr5:112105000-112128600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr5:112105000-112128600	Weak transcription	Thymus	Thymus
29	chr5:112105200-112125000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr5:112108200-112129200	Weak transcription	NH-A	brain
31	chr5:112108400-112130200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:112110400-112128800	Weak transcription	Brain Angular Gyrus	brain
33	chr5:112111000-112128600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr5:112112200-112128400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr5:112112200-112128400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr5:112113400-112122200	Strong transcription	Primary B cells from cord blood	blood
37	chr5:112114000-112128400	Weak transcription	HSMMtube	muscle
38	chr5:112115000-112123000	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr5:112115200-112123400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:112115600-112134600	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr5:112115600-112140000	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr5:112115800-112151200	Weak transcription	NHEK	skin
43	chr5:112116000-112123200	Strong transcription	Duodenum Mucosa	Duodenum
44	chr5:112116000-112128200	Weak transcription	HMEC	breast
45	chr5:112116000-112128200	Weak transcription	Osteobl	bone
46	chr5:112116200-112126800	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr5:112116800-112129800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr5:112117000-112130200	Weak transcription	K562	blood
49	chr5:112117800-112128400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr5:112118000-112126800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links