Variant report

Variant	rs6044137
Chromosome Location	chr20:16556547-16556548
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr20:16554836-16556550	HepG2	liver:	n/a	n/a
2	MXI1	chr20:16555163-16556676	SK-N-SH	brain:	n/a	n/a
3	SIN3AK20	chr20:16555209-16556550	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:16554484..16557263-chr20:16559352..16563570,6	K562	blood:
2	chr20:16549901..16551714-chr20:16554248..16557125,2	MCF-7	breast:

Variant related genes	Relation type
KIF16B	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2143989	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2277778	0.92[ASN][1000 genomes]
rs2328048	0.92[ASN][1000 genomes]
rs4813224	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4813226	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4814510	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4814512	0.92[ASN][1000 genomes]
rs6034534	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6044143	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6044163	0.89[ASN][1000 genomes]
rs6075072	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6131844	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs910319	0.90[ASN][1000 genomes]

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16552200-16556600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr20:16553000-16557200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr20:16553200-16556600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr20:16553600-16556600	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr20:16555000-16556600	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr20:16555200-16556600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr20:16555200-16556600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr20:16555400-16556600	Active TSS	Primary T helper naive cells from peripheral blood	blood
9	chr20:16555400-16556600	Active TSS	Right Ventricle	heart
10	chr20:16555400-16557000	Active TSS	K562	blood
11	chr20:16555600-16556600	Active TSS	Rectal Smooth Muscle	rectum
12	chr20:16555600-16556600	Active TSS	Stomach Smooth Muscle	stomach
13	chr20:16555600-16557000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr20:16555800-16556600	Flanking Active TSS	NHEK	skin
15	chr20:16556000-16556600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr20:16556000-16556600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr20:16556000-16556800	Flanking Active TSS	HepG2	liver
18	chr20:16556000-16559600	Weak transcription	Lung	lung
19	chr20:16556000-16560200	Weak transcription	Small Intestine	intestine
20	chr20:16556200-16556600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr20:16556200-16556600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr20:16556200-16556600	Enhancers	Primary B cells from peripheral blood	blood
23	chr20:16556200-16556600	Enhancers	Primary hematopoietic stem cells	blood
24	chr20:16556200-16556600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr20:16556200-16556600	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr20:16556200-16556600	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr20:16556200-16556600	Enhancers	Colonic Mucosa	Colon
28	chr20:16556200-16556600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr20:16556200-16556600	Enhancers	Fetal Brain Male	brain
30	chr20:16556200-16556600	Flanking Active TSS	Fetal Heart	heart
31	chr20:16556200-16556600	Enhancers	Fetal Lung	lung
32	chr20:16556200-16556600	Enhancers	Placenta	Placenta
33	chr20:16556200-16556600	Enhancers	Fetal Thymus	thymus
34	chr20:16556200-16556600	Enhancers	Right Atrium	heart
35	chr20:16556200-16556800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr20:16556200-16556800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr20:16556200-16557000	Enhancers	Fetal Muscle Leg	muscle
38	chr20:16556200-16559600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr20:16556200-16559800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr20:16556200-16560000	Weak transcription	Stomach Mucosa	stomach
41	chr20:16556200-16560400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr20:16556400-16556600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr20:16556400-16556600	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr20:16556400-16556600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr20:16556400-16556600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr20:16556400-16556600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr20:16556400-16556600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr20:16556400-16556600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr20:16556400-16556600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr20:16556400-16556600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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