Variant report

Variant	rs73901826
Chromosome Location	chr20:23374604-23374605
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23370019..23371821-chr20:23372908..23375438,2	MCF-7	breast:
2	chr20:23369812..23371828-chr20:23372663..23375107,2	K562	blood:
3	chr20:23368241..23370501-chr20:23374374..23376749,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10485644	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1076777	0.91[EUR][1000 genomes]
rs1122407	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12624341	0.93[EUR][1000 genomes]
rs12625187	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12625257	0.96[EUR][1000 genomes]
rs12625297	0.96[EUR][1000 genomes]
rs12625468	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12625489	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12625948	0.82[AMR][1000 genomes]
rs12625959	0.91[EUR][1000 genomes]
rs12625994	0.96[EUR][1000 genomes]
rs16985303	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16985337	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2273237	0.91[EUR][1000 genomes]
rs34036626	0.96[EUR][1000 genomes]
rs3736756	0.96[EUR][1000 genomes]
rs3761276	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3761278	0.82[AMR][1000 genomes]
rs56393556	0.96[EUR][1000 genomes]
rs56693860	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56725318	0.96[EUR][1000 genomes]
rs57322153	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57535381	0.82[AMR][1000 genomes]
rs57896475	0.93[EUR][1000 genomes]
rs58338739	0.84[AFR][1000 genomes]
rs59852988	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60799291	0.96[EUR][1000 genomes]
rs61024391	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61297472	0.96[EUR][1000 genomes]
rs61344818	0.96[EUR][1000 genomes]
rs73901859	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73901870	0.96[EUR][1000 genomes]
rs8115832	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8117246	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8123389	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8125332	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs73901826	CSTL1	cis	Esophagus Mucosa	GTEx
rs73901826	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	chr20:23344000-23392600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr20:23348200-23384800	Weak transcription	Stomach Mucosa	stomach
3	chr20:23352800-23376400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr20:23353000-23378200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr20:23354400-23389000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr20:23354400-23399800	Weak transcription	Hela-S3	cervix
7	chr20:23354600-23375200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr20:23358200-23377800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr20:23361200-23399600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr20:23363000-23375000	Weak transcription	Fetal Heart	heart
11	chr20:23364800-23378000	Strong transcription	Primary T cells from cord blood	blood
12	chr20:23365400-23376200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr20:23365800-23376000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr20:23366400-23377600	Weak transcription	Right Atrium	heart
15	chr20:23366800-23376200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr20:23366800-23382400	Strong transcription	Dnd41	blood
17	chr20:23367000-23377000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr20:23367000-23378200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr20:23367200-23376000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr20:23367200-23376000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr20:23367200-23377600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr20:23367600-23376400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr20:23367800-23376000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr20:23367800-23380400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr20:23368000-23376200	Strong transcription	Fetal Intestine Large	intestine
26	chr20:23368000-23376400	Strong transcription	Liver	Liver
27	chr20:23368200-23375400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr20:23368200-23376200	Strong transcription	HepG2	liver
29	chr20:23368400-23375800	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr20:23368400-23376200	Strong transcription	Brain Anterior Caudate	brain
31	chr20:23368400-23376200	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr20:23368400-23376600	Strong transcription	Fetal Muscle Trunk	muscle
33	chr20:23368400-23376800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr20:23368400-23376800	Strong transcription	Adipose Nuclei	Adipose
35	chr20:23368600-23375600	Strong transcription	Fetal Thymus	thymus
36	chr20:23368800-23376000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr20:23368800-23377000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr20:23369200-23376200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr20:23369400-23375800	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr20:23369800-23375800	Strong transcription	Brain Cingulate Gyrus	brain
41	chr20:23370000-23376200	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr20:23370000-23377000	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr20:23370200-23375800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr20:23370200-23376000	Strong transcription	Stomach Smooth Muscle	stomach
45	chr20:23370200-23376000	Strong transcription	HSMMtube	muscle
46	chr20:23370200-23376200	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr20:23370600-23375600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr20:23370600-23375600	Strong transcription	Fetal Stomach	stomach
49	chr20:23370800-23377800	Weak transcription	NH-A	brain
50	chr20:23371000-23376000	Strong transcription	Aorta	Aorta

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