Variant report

Variant	rs6044121
Chromosome Location	chr20:16546134-16546135
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:16545974..16548776-chr20:16553944..16556152,2	K562	blood:
2	chr20:16545320..16547159-chr20:16551399..16553225,2	K562	blood:

Variant related genes	Relation type
ENSG00000089177	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1007144	0.91[CEU][hapmap];0.81[JPT][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13042615	0.84[CEU][hapmap];0.87[EUR][1000 genomes]
rs13044683	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2179905	0.95[EUR][1000 genomes]
rs2328045	0.97[EUR][1000 genomes]
rs34548254	0.97[EUR][1000 genomes]
rs34678561	0.95[EUR][1000 genomes]
rs35610860	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4813225	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55776240	0.97[EUR][1000 genomes]
rs6034535	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6034539	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6044124	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6044128	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6044141	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6044146	0.94[EUR][1000 genomes]
rs6105631	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6111190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6111195	0.95[EUR][1000 genomes]
rs6514692	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6514693	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs926772	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs926773	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs997972	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6044121	KIF16B	cis	Whole Blood	GTEx
rs6044121	KIF16B	cis	Thyroid	GTEx
rs6044121	KIF16B	cis	Muscle Skeletal	GTEx
rs6044121	C20orf23	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16509200-16553000	Weak transcription	Primary T cells from cord blood	blood
2	chr20:16511600-16549000	Weak transcription	Colonic Mucosa	Colon
3	chr20:16534600-16553600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr20:16536000-16551400	Weak transcription	Right Ventricle	heart
5	chr20:16537000-16548800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr20:16537200-16549200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr20:16537200-16552000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr20:16537400-16550200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr20:16537400-16551200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr20:16537400-16553400	Weak transcription	Aorta	Aorta
11	chr20:16537600-16551400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr20:16537600-16551400	Weak transcription	Esophagus	oesophagus
13	chr20:16537600-16551800	Weak transcription	Adipose Nuclei	Adipose
14	chr20:16538400-16546800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr20:16538400-16550600	Weak transcription	NHEK	skin
16	chr20:16539000-16546200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr20:16539200-16551400	Weak transcription	Lung	lung
18	chr20:16539400-16549800	Weak transcription	Fetal Intestine Small	intestine
19	chr20:16541000-16548800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr20:16541800-16551800	Weak transcription	Left Ventricle	heart
21	chr20:16543200-16551400	Weak transcription	Psoas Muscle	Psoas
22	chr20:16544200-16552600	Weak transcription	A549	lung
23	chr20:16544400-16549600	Weak transcription	HepG2	liver
24	chr20:16544400-16553000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr20:16544600-16549800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr20:16544600-16549800	Weak transcription	Fetal Kidney	kidney
27	chr20:16544600-16553000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr20:16545400-16546600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr20:16545400-16546600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr20:16545400-16547000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr20:16545600-16549600	Weak transcription	Pancreas	Pancrea
32	chr20:16545600-16551800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr20:16545800-16547200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr20:16545800-16551800	Weak transcription	Gastric	stomach
35	chr20:16546000-16546400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr20:16546000-16546600	Enhancers	H9 Cell Line	embryonic stem cell
37	chr20:16546000-16547200	Enhancers	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links