Variant report

Variant	rs6514692
Chromosome Location	chr20:16559406-16559407
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	chr20:16554484..16557263-chr20:16559352..16563570,6	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs1007144	0.92[CEU][hapmap];0.81[AMR][1000 genomes]
rs13042615	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs13044683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2179905	0.96[EUR][1000 genomes]
rs2328045	0.98[EUR][1000 genomes]
rs34548254	0.98[EUR][1000 genomes]
rs34678561	0.96[EUR][1000 genomes]
rs35610860	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4813225	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];0.92[JPT][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55776240	0.98[EUR][1000 genomes]
rs6034535	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6034539	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6044121	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6044124	1.00[CHB][hapmap];0.81[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6044128	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6044141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6044146	0.95[EUR][1000 genomes]
rs6105631	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6111190	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6111195	0.96[EUR][1000 genomes]
rs6514693	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs926772	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs926773	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs997972	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762064	chr20:16558260-16568062	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
2	nsv1058496	chr20:16558260-16575531	Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs6514692	KIF16B	cis	Whole Blood	GTEx
rs6514692	C20orf23	Cis_1M	lymphoblastoid	RTeQTL
rs6514692	C20orf23	cis	multi-tissue	Pritchard
rs6514692	KIF16B	cis	Thyroid	GTEx
rs6514692	KIF16B	cis	Muscle Skeletal	GTEx
rs6514692	KIF16B	cis	cerebellum	SCAN

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16556000-16559600	Weak transcription	Lung	lung
2	chr20:16556000-16560200	Weak transcription	Small Intestine	intestine
3	chr20:16556200-16559600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr20:16556200-16559800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr20:16556200-16560000	Weak transcription	Stomach Mucosa	stomach
6	chr20:16556200-16560400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr20:16556400-16559600	Weak transcription	Esophagus	oesophagus
8	chr20:16556400-16559600	Weak transcription	Fetal Intestine Small	intestine
9	chr20:16556400-16559600	Weak transcription	Gastric	stomach
10	chr20:16556400-16559600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr20:16556400-16559600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr20:16556400-16559600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr20:16556400-16560000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr20:16556400-16560000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr20:16556400-16560000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr20:16556400-16560000	Weak transcription	Fetal Kidney	kidney
17	chr20:16556400-16560000	Weak transcription	HMEC	breast
18	chr20:16556400-16560200	Weak transcription	HSMMtube	muscle
19	chr20:16556400-16560200	Weak transcription	NH-A	brain
20	chr20:16556400-16560800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr20:16556400-16560800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr20:16556400-16561000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr20:16556400-16562400	Weak transcription	Left Ventricle	heart
24	chr20:16556600-16559600	Weak transcription	NHDF-Ad	bronchial
25	chr20:16556600-16559800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr20:16556600-16559800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr20:16556600-16559800	Weak transcription	Fetal Brain Male	brain
28	chr20:16556600-16560000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr20:16556600-16560000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr20:16556600-16560000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr20:16556600-16560000	Weak transcription	Osteobl	bone
32	chr20:16556600-16560200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr20:16556600-16560200	Weak transcription	Fetal Lung	lung
34	chr20:16556600-16560200	Weak transcription	NHLF	lung
35	chr20:16556600-16560400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr20:16556600-16560600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr20:16556600-16560600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr20:16556600-16560600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr20:16556600-16560800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr20:16556600-16560800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr20:16556600-16560800	Weak transcription	Adipose Nuclei	Adipose
42	chr20:16556600-16560800	Weak transcription	Colon Smooth Muscle	Colon
43	chr20:16556600-16560800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr20:16556600-16561000	Weak transcription	Colonic Mucosa	Colon
45	chr20:16556800-16559600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr20:16556800-16560000	Weak transcription	NHEK	skin
47	chr20:16556800-16560200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr20:16556800-16560800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr20:16556800-16560800	Weak transcription	Fetal Brain Female	brain
50	chr20:16556800-16560800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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