Variant report

Variant	rs16985266
Chromosome Location	chr20:23344433-23344434
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10485644	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1076777	0.96[EUR][1000 genomes]
rs1109557	0.81[CHB][hapmap];0.89[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.85[TSI][hapmap];0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1122407	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12624341	0.98[EUR][1000 genomes]
rs12625187	1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.85[TSI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12625257	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12625297	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12625468	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12625489	1.00[CEU][hapmap];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]
rs12625948	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12625959	0.96[EUR][1000 genomes]
rs12625994	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16985303	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.91[MEX][hapmap];1.00[TSI][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]
rs16985337	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2236024	1.00[MEX][hapmap]
rs2273237	0.96[EUR][1000 genomes]
rs34036626	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34831633	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3736756	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3761276	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3761278	0.81[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs56393556	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56693860	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56725318	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57034369	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs57322153	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57436024	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs57535381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs57896475	0.98[EUR][1000 genomes]
rs58192622	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs59143301	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs59852988	0.96[EUR][1000 genomes]
rs60799291	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61024391	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61297472	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61344818	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7265627	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73901826	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73901859	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73901870	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8115832	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8117246	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8123389	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8125332	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16985266	CSTL1	cis	Esophagus Mucosa	GTEx
rs16985266	CSTL1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23342400-23352600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr20:23343400-23344600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr20:23343400-23344600	Flanking Active TSS	Fetal Heart	heart
4	chr20:23343400-23344800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr20:23343400-23345000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr20:23343400-23345000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr20:23343600-23344600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr20:23343600-23344600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr20:23343600-23344800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr20:23343600-23345200	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr20:23343800-23344600	Enhancers	Primary hematopoietic stem cells	blood
12	chr20:23343800-23344600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr20:23343800-23344600	Flanking Active TSS	K562	blood
14	chr20:23343800-23345000	Flanking Active TSS	GM12878-XiMat	blood
15	chr20:23344000-23344600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr20:23344000-23344600	Enhancers	Primary B cells from peripheral blood	blood
17	chr20:23344000-23344600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr20:23344000-23344600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr20:23344000-23344600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr20:23344000-23344600	Enhancers	Fetal Lung	lung
21	chr20:23344000-23344800	Enhancers	Primary T cells from cord blood	blood
22	chr20:23344000-23344800	Enhancers	Brain Substantia Nigra	brain
23	chr20:23344000-23344800	Enhancers	Stomach Mucosa	stomach
24	chr20:23344000-23345200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr20:23344000-23345200	Enhancers	Adipose Nuclei	Adipose
26	chr20:23344000-23345200	Enhancers	Right Atrium	heart
27	chr20:23344000-23345400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr20:23344000-23345400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr20:23344000-23346000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr20:23344000-23347600	Enhancers	Primary T cells fromperipheralblood	blood
31	chr20:23344000-23392600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr20:23344200-23344600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr20:23344200-23344600	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr20:23344200-23344600	Enhancers	Colonic Mucosa	Colon
35	chr20:23344200-23344600	Enhancers	Fetal Brain Female	brain
36	chr20:23344200-23344800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr20:23344200-23344800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr20:23344200-23344800	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr20:23344200-23344800	Enhancers	HUVEC	blood vessel
40	chr20:23344200-23344800	Enhancers	NH-A	brain
41	chr20:23344200-23345000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr20:23344200-23345000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr20:23344200-23345000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr20:23344200-23345000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr20:23344200-23345000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr20:23344200-23345000	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr20:23344200-23345000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr20:23344200-23345000	Weak transcription	Liver	Liver
49	chr20:23344200-23345000	Enhancers	Brain Cingulate Gyrus	brain
50	chr20:23344200-23345000	Weak transcription	Fetal Thymus	thymus

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