Variant report

Variant	rs4813225
Chromosome Location	chr20:16550066-16550067
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:16549901..16551714-chr20:16554248..16557125,2	MCF-7	breast:
2	chr20:16509254..16511285-chr20:16547385..16550108,3	MCF-7	breast:
3	chr20:16548883..16552471-chr20:16553921..16556810,5	K562	blood:

Variant related genes	Relation type
ENSG00000089177	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs1007144	0.92[CEU][hapmap];0.83[JPT][hapmap];0.86[AMR][1000 genomes]
rs13042615	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs13044683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[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	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55776240	0.97[EUR][1000 genomes]
rs6034535	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6034539	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6044121	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]
rs6044124	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6044128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6044141	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6044146	0.94[EUR][1000 genomes]
rs6105631	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6111190	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6111195	0.95[EUR][1000 genomes]
rs6514692	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6514693	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs926772	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs926773	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs997972	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4813225	KIF16B	cis	Thyroid	GTEx
rs4813225	KIF16B	cis	cerebellum	SCAN
rs4813225	KIF16B	cis	Muscle Skeletal	GTEx
rs4813225	C20orf23	cis	multi-tissue	Pritchard
rs4813225	KIF16B	cis	Whole Blood	GTEx

Chromatin state (count:47 , 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	chr20:16534600-16553600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr20:16536000-16551400	Weak transcription	Right Ventricle	heart
4	chr20:16537200-16552000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr20:16537400-16550200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr20:16537400-16551200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr20:16537400-16553400	Weak transcription	Aorta	Aorta
8	chr20:16537600-16551400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr20:16537600-16551400	Weak transcription	Esophagus	oesophagus
10	chr20:16537600-16551800	Weak transcription	Adipose Nuclei	Adipose
11	chr20:16538400-16550600	Weak transcription	NHEK	skin
12	chr20:16539200-16551400	Weak transcription	Lung	lung
13	chr20:16541800-16551800	Weak transcription	Left Ventricle	heart
14	chr20:16543200-16551400	Weak transcription	Psoas Muscle	Psoas
15	chr20:16544200-16552600	Weak transcription	A549	lung
16	chr20:16544400-16553000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr20:16544600-16553000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr20:16545600-16551800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr20:16545800-16551800	Weak transcription	Gastric	stomach
20	chr20:16546600-16551600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr20:16546600-16551800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr20:16546600-16553400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr20:16546800-16552800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr20:16547000-16552000	Weak transcription	Fetal Muscle Leg	muscle
25	chr20:16547200-16551400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr20:16547200-16552200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr20:16547200-16552800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr20:16547200-16552800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr20:16547200-16553000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr20:16548200-16551400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr20:16548800-16550800	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr20:16548800-16551600	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr20:16548800-16552000	Enhancers	Duodenum Mucosa	Duodenum
34	chr20:16549600-16550200	Enhancers	Pancreas	Pancrea
35	chr20:16549600-16550400	Enhancers	Fetal Intestine Large	intestine
36	chr20:16549600-16552800	Enhancers	HepG2	liver
37	chr20:16549800-16550200	Enhancers	Fetal Intestine Small	intestine
38	chr20:16549800-16550800	Enhancers	Liver	Liver
39	chr20:16549800-16551400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr20:16549800-16551800	Weak transcription	Small Intestine	intestine
41	chr20:16550000-16550200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr20:16550000-16550400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr20:16550000-16550400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr20:16550000-16550600	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr20:16550000-16551800	Weak transcription	Colonic Mucosa	Colon
46	chr20:16550000-16553000	Weak transcription	Stomach Mucosa	stomach
47	chr20:16550000-16553200	Weak transcription	Fetal Kidney	kidney

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