Variant report

Variant	rs10049549
Chromosome Location	chr4:88092376-88092377
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:88091038..88092796-chr4:88094355..88096189,2	K562	blood:
2	chr4:88090535..88092796-chr4:88094689..88097042,2	K562	blood:
3	chr4:88090797..88093455-chr4:88106518..88109486,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10050249	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12710836	1.00[CEU][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13105620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13126252	1.00[CEU][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13134294	0.84[AMR][1000 genomes]
rs13134907	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13140294	0.84[AMR][1000 genomes]
rs13145898	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13435811	1.00[CEU][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17704256	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17755195	1.00[CEU][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2035404	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2054611	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28390247	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28523549	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28621526	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28655413	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28668976	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28773027	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34128785	0.84[AMR][1000 genomes]
rs34242006	0.84[AMR][1000 genomes]
rs34422965	0.84[AMR][1000 genomes]
rs34589806	0.84[AMR][1000 genomes]
rs35133616	0.84[AMR][1000 genomes]
rs35542725	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36123985	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71607405	0.80[AMR][1000 genomes]
rs71607410	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9999554	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1007020	chr4:88046263-88235018	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv537169	chr4:88046263-88235018	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10049549	MAPKAPK5	trans	lymphoblastoid	RTeQTL
rs10049549	KLHL8	cis	multi-tissue	Pritchard

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88055200-88102800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:88058200-88109000	Weak transcription	Lung	lung
3	chr4:88059200-88100800	Weak transcription	Osteobl	bone
4	chr4:88061400-88109400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr4:88063200-88097400	Weak transcription	Small Intestine	intestine
6	chr4:88063200-88102000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:88064200-88098800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr4:88064200-88100400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr4:88064400-88092600	Weak transcription	HUVEC	blood vessel
10	chr4:88066200-88097200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:88066200-88101000	Weak transcription	HMEC	breast
12	chr4:88066800-88093000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:88067600-88096800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:88068000-88116400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:88073400-88093400	Weak transcription	Fetal Kidney	kidney
16	chr4:88073400-88098200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:88073400-88113000	Weak transcription	NHDF-Ad	bronchial
18	chr4:88074000-88100400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:88074200-88109400	Weak transcription	Pancreas	Pancrea
20	chr4:88074400-88100400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr4:88075400-88097800	Weak transcription	Colon Smooth Muscle	Colon
22	chr4:88077200-88111000	Weak transcription	Fetal Brain Male	brain
23	chr4:88077800-88099800	Weak transcription	Psoas Muscle	Psoas
24	chr4:88080400-88093600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr4:88080600-88098600	Weak transcription	NH-A	brain
26	chr4:88080600-88101800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr4:88081400-88096400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr4:88081600-88092400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:88081800-88140200	Weak transcription	Aorta	Aorta
30	chr4:88082000-88111000	Weak transcription	Brain Germinal Matrix	brain
31	chr4:88082000-88129200	Weak transcription	Esophagus	oesophagus
32	chr4:88082600-88120000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr4:88082800-88106400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:88083000-88116400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr4:88083800-88099000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr4:88084800-88099200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr4:88084800-88113600	Weak transcription	HSMM	muscle
38	chr4:88085000-88099200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr4:88085000-88100400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr4:88085000-88128000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:88085200-88098200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:88085200-88100200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr4:88085800-88098400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:88086400-88100600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr4:88086400-88102600	Weak transcription	HSMMtube	muscle
46	chr4:88086600-88109400	Weak transcription	NHLF	lung
47	chr4:88086800-88093600	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr4:88088000-88093000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:88088600-88092800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr4:88088800-88100800	Weak transcription	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links