Variant report

Variant	rs6044134
Chromosome Location	chr20:16555032-16555033
allele	A/G
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	chr20:16554949-16556346	HepG2	liver:	n/a	n/a
2	MAX	chr20:16554937-16556356	A549	lung:	n/a	chr20:16555920-16555927 chr20:16555918-16555928
3	TCF12	chr20:16554999-16556182	A549	lung:	n/a	chr20:16555434-16555444
4	TBP	chr20:16554871-16556113	K562	blood:	n/a	n/a
5	POLR2A	chr20:16554952-16555984	PANC-1	pancreas:	n/a	n/a
6	SP1	chr20:16555024-16555955	A549	lung:	n/a	chr20:16555656-16555668 chr20:16555656-16555668 chr20:16555658-16555667 chr20:16555657-16555666
7	POLR2A	chr20:16554974-16556005	HCT-116	colon:	n/a	n/a
8	POLR2A	chr20:16554836-16556550	HepG2	liver:	n/a	n/a
9	RCOR1	chr20:16555018-16556050	K562	blood:	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: 4 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs3746786	0.81[ASN][1000 genomes]
rs6044149	0.86[CHB][hapmap];0.86[CHD][hapmap];0.82[ASN][1000 genomes]
rs6075078	0.87[CHB][hapmap];0.86[CHD][hapmap];0.82[ASN][1000 genomes]
rs6135798	0.95[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6044134	RBBP9	cis	cerebellum	SCAN
rs6044134	C20orf23	Cis_1M	lymphoblastoid	RTeQTL
rs6044134	KIF16B	cis	Whole Blood	GTEx
rs6044134	C20orf23	cis	multi-tissue	Pritchard
rs6044134	KIF16B	cis	lymphoblastoid	seeQTL

Chromatin state (count:124 , 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	chr20:16552800-16555200	Active TSS	Rectal Smooth Muscle	rectum
3	chr20:16552800-16556400	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr20:16552800-16556400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr20:16553000-16556400	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr20:16553000-16556400	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr20:16553000-16557200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr20:16553200-16555400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr20:16553200-16555800	Active TSS	HSMM	muscle
10	chr20:16553200-16556000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr20:16553200-16556200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr20:16553200-16556400	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr20:16553200-16556400	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr20:16553200-16556600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr20:16553400-16556200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr20:16553400-16556400	Active TSS	H9 Cell Line	embryonic stem cell
17	chr20:16553600-16555200	Active TSS	Brain Cingulate Gyrus	brain
18	chr20:16553600-16555200	Active TSS	Brain Hippocampus Middle	brain
19	chr20:16553600-16556200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr20:16553600-16556600	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr20:16553800-16556000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr20:16554000-16555400	Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr20:16554200-16555600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr20:16554400-16555600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr20:16554400-16555600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr20:16554600-16555200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr20:16554600-16555200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr20:16554600-16555200	Enhancers	Primary B cells from peripheral blood	blood
29	chr20:16554600-16555200	Enhancers	Primary T cells fromperipheralblood	blood
30	chr20:16554600-16555200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr20:16554600-16555200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr20:16554600-16555200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr20:16554600-16555200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr20:16554600-16555200	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr20:16554600-16555200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr20:16554600-16555200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr20:16554600-16555200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr20:16554600-16555200	Active TSS	Brain Angular Gyrus	brain
39	chr20:16554600-16555200	Enhancers	Esophagus	oesophagus
40	chr20:16554600-16555200	Enhancers	Fetal Intestine Large	intestine
41	chr20:16554600-16555200	Enhancers	Fetal Intestine Small	intestine
42	chr20:16554600-16555200	Enhancers	Fetal Lung	lung
43	chr20:16554600-16555200	Enhancers	Fetal Muscle Trunk	muscle
44	chr20:16554600-16555200	Enhancers	Fetal Muscle Leg	muscle
45	chr20:16554600-16555200	Enhancers	Left Ventricle	heart
46	chr20:16554600-16555200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr20:16554600-16555200	Enhancers	Right Atrium	heart
48	chr20:16554600-16555200	Enhancers	Right Ventricle	heart
49	chr20:16554600-16555200	Weak transcription	Small Intestine	intestine
50	chr20:16554600-16555200	Active TSS	HUVEC	blood vessel

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