Variant report

Variant	rs4813226
Chromosome Location	chr20:16552238-16552239
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:16548883..16552471-chr20:16553921..16556810,5	K562	blood:
2	chr20:16507244..16509021-chr20:16550552..16553187,2	MCF-7	breast:
3	chr20:16545320..16547159-chr20:16551399..16553225,2	K562	blood:
4	chr20:16550509..16554024-chr20:16560848..16563415,3	MCF-7	breast:
5	chr20:16550822..16552324-chr20:16553921..16556799,2	K562	blood:
6	chr20:16454633..16456695-chr20:16551196..16553278,2	K562	blood:

Variant related genes	Relation type
ENSG00000089177	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs2143985	0.86[CHB][hapmap]
rs2143989	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2179904	0.81[CHB][hapmap]
rs2277778	1.00[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs2328048	0.93[ASN][1000 genomes]
rs4813224	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4814510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4814512	0.93[ASN][1000 genomes]
rs6034521	0.81[CHB][hapmap]
rs6034527	0.81[CHB][hapmap]
rs6034530	0.81[CHB][hapmap]
rs6034534	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6044137	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6044143	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6044163	0.90[ASN][1000 genomes]
rs6075072	0.94[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6111175	0.81[CHB][hapmap]
rs6131844	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs910319	0.89[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];0.81[TSI][hapmap];0.89[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4813226	KIF16B	cis	lymphoblastoid	seeQTL

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16509200-16553000	Weak transcription	Primary T cells from cord blood	blood
2	chr20:16534600-16553600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr20:16537400-16553400	Weak transcription	Aorta	Aorta
4	chr20:16544200-16552600	Weak transcription	A549	lung
5	chr20:16544400-16553000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr20:16544600-16553000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr20:16546600-16553400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr20:16546800-16552800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr20:16547200-16552800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr20:16547200-16552800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr20:16547200-16553000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr20:16549600-16552800	Enhancers	HepG2	liver
13	chr20:16550000-16553000	Weak transcription	Stomach Mucosa	stomach
14	chr20:16550000-16553200	Weak transcription	Fetal Kidney	kidney
15	chr20:16550400-16553000	Weak transcription	Fetal Intestine Large	intestine
16	chr20:16550400-16553200	Weak transcription	GM12878-XiMat	blood
17	chr20:16550800-16552800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr20:16551200-16552400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr20:16551400-16552400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr20:16551400-16552800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr20:16551400-16552800	Weak transcription	Liver	Liver
22	chr20:16551600-16552600	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr20:16551600-16553000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr20:16551600-16553000	Flanking Active TSS	NHEK	skin
25	chr20:16551800-16552400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr20:16551800-16552600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr20:16551800-16552600	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr20:16551800-16552600	Enhancers	Left Ventricle	heart
29	chr20:16551800-16552800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr20:16551800-16552800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr20:16551800-16552800	Enhancers	Right Atrium	heart
32	chr20:16551800-16553000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr20:16551800-16553000	Weak transcription	Right Ventricle	heart
34	chr20:16551800-16553200	Enhancers	Adipose Nuclei	Adipose
35	chr20:16551800-16553200	Enhancers	Small Intestine	intestine
36	chr20:16551800-16553400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr20:16551800-16555000	Active TSS	Colonic Mucosa	Colon
38	chr20:16552000-16552400	Flanking Active TSS	Ovary	ovary
39	chr20:16552000-16552600	Enhancers	Fetal Muscle Trunk	muscle
40	chr20:16552000-16552800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr20:16552000-16552800	Active TSS	Duodenum Mucosa	Duodenum
42	chr20:16552000-16553000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr20:16552000-16553000	Weak transcription	Brain Anterior Caudate	brain
44	chr20:16552000-16553200	Enhancers	Brain Angular Gyrus	brain
45	chr20:16552000-16553400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr20:16552000-16553400	Weak transcription	Esophagus	oesophagus
47	chr20:16552000-16553400	Weak transcription	Thymus	Thymus
48	chr20:16552200-16552400	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr20:16552200-16552600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr20:16552200-16552600	Weak transcription	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links