Variant report

Variant	rs8019634
Chromosome Location	chr14:71864449-71864450
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr14:71864385-71864695	T-47D	breast:	n/a	n/a

Variant related genes	Relation type
SNORD56B	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11620849	0.91[EUR][1000 genomes]
rs2041331	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs36531	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36533	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36534	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs40621	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41216	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41220	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41228	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs718854	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8015579	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8019634	RP11-718G2.3	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71845000-71865200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:71845800-71865200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr14:71847600-71867600	Weak transcription	Fetal Lung	lung
4	chr14:71847600-71869000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:71848600-71867000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:71849800-71872200	Weak transcription	Fetal Intestine Small	intestine
7	chr14:71851200-71874200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:71851400-71878200	Weak transcription	Pancreas	Pancrea
9	chr14:71853800-71866800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr14:71856000-71866000	Weak transcription	NH-A	brain
11	chr14:71856200-71865000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr14:71856600-71865200	Weak transcription	Colon Smooth Muscle	Colon
13	chr14:71859000-71864800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr14:71859000-71878200	Weak transcription	Lung	lung
15	chr14:71859200-71867600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr14:71859400-71864600	Weak transcription	Primary B cells from cord blood	blood
17	chr14:71860600-71865200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr14:71860600-71867600	Weak transcription	Small Intestine	intestine
19	chr14:71861000-71885200	Weak transcription	K562	blood
20	chr14:71861400-71864600	Enhancers	Liver	Liver
21	chr14:71861400-71875200	Weak transcription	Brain Anterior Caudate	brain
22	chr14:71861600-71867400	Weak transcription	NHEK	skin
23	chr14:71861800-71865200	Weak transcription	Osteobl	bone
24	chr14:71862000-71865400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:71862000-71866000	Enhancers	HepG2	liver
26	chr14:71862000-71867000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:71862000-71871400	Enhancers	Primary B cells from peripheral blood	blood
28	chr14:71862200-71869000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:71862400-71865400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:71862400-71867000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:71862400-71867400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr14:71862600-71867600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:71862600-71878200	Weak transcription	Spleen	Spleen
34	chr14:71862800-71867600	Weak transcription	NHDF-Ad	bronchial
35	chr14:71863000-71865400	Enhancers	Fetal Heart	heart
36	chr14:71863200-71865200	Weak transcription	Stomach Mucosa	stomach
37	chr14:71863200-71866800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr14:71863200-71874200	Weak transcription	Aorta	Aorta
39	chr14:71863800-71865200	Enhancers	GM12878-XiMat	blood
40	chr14:71864000-71865400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr14:71864200-71864600	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr14:71864200-71864600	Enhancers	Brain Hippocampus Middle	brain
43	chr14:71864200-71864800	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr14:71864400-71865200	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr14:71864400-71867000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr14:71864400-71867800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr14:71864400-71868000	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr14:71864400-71868000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr14:71864400-71868400	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr14:71864400-71869400	Enhancers	Primary T helper cells PMA-I stimulated	--

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