Variant report

Variant	rs8023058
Chromosome Location	chr14:71861703-71861704
allele	A/G
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	MYC	chr14:71861683-71862038	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr14:71861686-71862226	MCF10A-Er-Src	breast:	n/a	chr14:71862086-71862094 chr14:71862086-71862093

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:71860736..71862817-chr14:71864223..71866088,2	K562	blood:
2	chr14:71786858..71788370-chr14:71860780..71862665,2	K562	blood:

Variant related genes	Relation type
SNORD56B	TF binding region
ENSG00000207444	Chromatin interaction
ENSG00000197555	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10130652	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11628525	0.85[CHB][hapmap];0.80[MEX][hapmap];0.85[TSI][hapmap]
rs12878009	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12897119	0.96[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs193440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs193441	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs193442	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs193443	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2041330	0.92[CEU][hapmap];0.81[CHB][hapmap];0.86[EUR][1000 genomes]
rs2108048	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3088206	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36528	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36532	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36535	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41217	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41218	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41219	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs41224	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs41225	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs41227	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41229	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4464023	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];0.90[LWK][hapmap];0.96[MEX][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7141155	0.97[CHD][hapmap];0.83[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.86[YRI][hapmap]
rs7153726	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7154208	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8007271	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8007521	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8016217	0.96[CEU][hapmap];0.90[CHB][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs917391	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8023058	SLC8A3	cis	cerebellum	SCAN
rs8023058	VSX2	cis	parietal	SCAN

Chromatin state (count:39 , 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	chr14:71850800-71862000	Weak transcription	Aorta	Aorta
8	chr14:71851200-71874200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:71851400-71878200	Weak transcription	Pancreas	Pancrea
10	chr14:71853800-71866800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:71855600-71864400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr14:71856000-71866000	Weak transcription	NH-A	brain
13	chr14:71856200-71865000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr14:71856600-71865200	Weak transcription	Colon Smooth Muscle	Colon
15	chr14:71859000-71862000	Weak transcription	Spleen	Spleen
16	chr14:71859000-71864800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr14:71859000-71878200	Weak transcription	Lung	lung
18	chr14:71859200-71867600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr14:71859400-71864600	Weak transcription	Primary B cells from cord blood	blood
20	chr14:71860200-71863000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr14:71860600-71862800	Enhancers	NHDF-Ad	bronchial
22	chr14:71860600-71865200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr14:71860600-71867600	Weak transcription	Small Intestine	intestine
24	chr14:71860800-71861800	Enhancers	Osteobl	bone
25	chr14:71860800-71862000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:71861000-71861800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:71861000-71862000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr14:71861000-71862200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:71861000-71862400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:71861000-71885200	Weak transcription	K562	blood
31	chr14:71861200-71862400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr14:71861400-71862000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:71861400-71863000	Weak transcription	Fetal Heart	heart
34	chr14:71861400-71864200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr14:71861400-71864400	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr14:71861400-71864600	Enhancers	Liver	Liver
37	chr14:71861400-71875200	Weak transcription	Brain Anterior Caudate	brain
38	chr14:71861600-71862000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr14:71861600-71867400	Weak transcription	NHEK	skin

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