Variant report

Variant	rs10485644
Chromosome Location	chr20:23350790-23350791
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	chr20:23349924..23351887-chr20:23357780..23360381,2	K562	blood:

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

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

rs_ID	r²[population]
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];0.84[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];0.96[YRI][hapmap];0.83[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];0.82[LWK][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.83[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];0.85[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[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];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12625948	0.94[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];0.91[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16985266	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]
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];0.93[LWK][hapmap];0.91[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[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];0.95[YRI][hapmap];0.83[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];0.91[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3761276	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3761278	0.81[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[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	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs57322153	1.00[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	0.98[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	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61024391	0.83[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	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73901870	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8115832	0.82[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	0.81[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
rs10485644	CSTL1	cis	Skin Sun Exposed Lower leg	GTEx
rs10485644	CSTL1	cis	Esophagus Mucosa	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	chr20:23344000-23392600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr20:23344600-23354200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr20:23344800-23362400	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr20:23345000-23361800	Strong transcription	Fetal Thymus	thymus
6	chr20:23345000-23362000	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr20:23345000-23362600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr20:23346600-23363200	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr20:23346800-23350800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr20:23346800-23362600	Weak transcription	Right Atrium	heart
11	chr20:23347200-23362400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr20:23347400-23362000	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr20:23347600-23355200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr20:23347600-23358600	Strong transcription	Primary T cells from cord blood	blood
15	chr20:23347800-23362000	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr20:23347800-23362200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr20:23347800-23362600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr20:23348000-23351000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr20:23348000-23353000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr20:23348000-23374200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr20:23348200-23351400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr20:23348200-23354600	Strong transcription	Primary B cells from cord blood	blood
23	chr20:23348200-23354800	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr20:23348200-23384800	Weak transcription	Stomach Mucosa	stomach
25	chr20:23348400-23358200	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr20:23348400-23362000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr20:23348600-23351400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr20:23348600-23358800	Strong transcription	Primary B cells from peripheral blood	blood
29	chr20:23348600-23362400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr20:23348600-23363000	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr20:23348800-23351200	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr20:23348800-23352200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr20:23348800-23354200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr20:23348800-23354400	Strong transcription	HUVEC	blood vessel
35	chr20:23348800-23358000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr20:23348800-23358200	Strong transcription	NH-A	brain
37	chr20:23348800-23362000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr20:23348800-23363000	Strong transcription	GM12878-XiMat	blood
39	chr20:23348800-23366400	Strong transcription	Dnd41	blood
40	chr20:23349000-23351600	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr20:23349000-23354800	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr20:23349000-23354800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr20:23349000-23358800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr20:23349200-23354000	Strong transcription	A549	lung
45	chr20:23349200-23354600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
46	chr20:23349200-23359000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr20:23349200-23359000	Strong transcription	Fetal Muscle Trunk	muscle
48	chr20:23349200-23359200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr20:23349200-23359400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr20:23349200-23360400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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