Variant report

Variant	rs41216
Chromosome Location	chr14:71851912-71851913
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:71839504..71842114-chr14:71850336..71853311,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2041331	0.86[ASN][1000 genomes]
rs36531	0.91[ASN][1000 genomes]
rs36533	0.90[ASN][1000 genomes]
rs36534	0.90[ASN][1000 genomes]
rs40621	0.91[ASN][1000 genomes]
rs41220	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs41228	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs718854	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.81[MEX][hapmap];0.90[MKK][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs8015579	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8019634	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs41216	ACOT2	cis	parietal	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71837400-71855800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr14:71844800-71852600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr14:71844800-71858600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr14:71845000-71865200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:71845200-71852200	Enhancers	Fetal Heart	heart
6	chr14:71845200-71854400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr14:71845800-71865200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:71846000-71855600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr14:71846200-71857400	Weak transcription	Primary B cells from cord blood	blood
10	chr14:71847200-71852800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:71847400-71854000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr14:71847400-71855800	Weak transcription	NH-A	brain
13	chr14:71847600-71854600	Weak transcription	Hela-S3	cervix
14	chr14:71847600-71867600	Weak transcription	Fetal Lung	lung
15	chr14:71847600-71869000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:71848600-71867000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:71849800-71855800	Enhancers	Stomach Mucosa	stomach
18	chr14:71849800-71872200	Weak transcription	Fetal Intestine Small	intestine
19	chr14:71850200-71852200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:71850600-71861000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr14:71850800-71852200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr14:71850800-71855200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr14:71850800-71855200	Weak transcription	Placenta	Placenta
24	chr14:71850800-71862000	Weak transcription	Aorta	Aorta
25	chr14:71851000-71852200	Strong transcription	Osteobl	bone
26	chr14:71851200-71854600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:71851200-71855200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:71851200-71860200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr14:71851200-71874200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr14:71851400-71854800	Weak transcription	NHEK	skin
31	chr14:71851400-71878200	Weak transcription	Pancreas	Pancrea
32	chr14:71851600-71860800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:71851800-71852000	Enhancers	Spleen	Spleen
34	chr14:71851800-71852200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr14:71851800-71855400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr14:71851800-71858400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr14:71851800-71860000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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