Variant report

Variant	rs1003480
Chromosome Location	chr22:31346752-31346753
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31346728..31348525-chr22:31359939..31362603,2	MCF-7	breast:
2	chr22:31344261..31347323-chr22:31363987..31366940,5	MCF-7	breast:
3	chr22:31344983..31347156-chr22:31357746..31359920,2	K562	blood:
4	chr22:31346122..31346934-chr22:31478355..31479305,2	MCF-7	breast:
5	chr22:31346340..31348040-chr22:31355865..31358593,2	MCF-7	breast:
6	chr22:31341646..31347156-chr22:31356738..31361617,7	K562	blood:
7	chr22:31345220..31348145-chr22:31348354..31350638,2	K562	blood:
8	chr22:31343088..31345348-chr22:31346142..31349284,4	K562	blood:
9	chr22:31339986..31349104-chr22:31474916..31484317,23	MCF-7	breast:
10	chr22:31345436..31347401-chr22:31349614..31351339,2	MCF-7	breast:
11	chr22:31345882..31348190-chr22:31477203..31479085,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253352	Chromatin interaction
ENSG00000273387	Chromatin interaction
ENSG00000133422	Chromatin interaction
ENSG00000183963	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1005252	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10854601	0.80[YRI][hapmap]
rs2074578	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.91[TSI][hapmap];0.80[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2240175	0.80[YRI][hapmap]
rs2240177	0.86[YRI][hapmap]
rs2240179	0.86[YRI][hapmap]
rs2240182	0.94[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2240183	0.86[YRI][hapmap]
rs2285918	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3747151	0.86[YRI][hapmap]
rs3788426	0.86[YRI][hapmap]
rs3804085	0.82[YRI][hapmap]
rs4820916	0.86[YRI][hapmap]
rs5749186	0.92[CEU][hapmap];0.94[CHB][hapmap];0.83[YRI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5749194	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5749195	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5753369	0.94[CHB][hapmap];0.84[JPT][hapmap];0.80[YRI][hapmap]
rs5753388	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753392	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753394	0.80[YRI][hapmap]
rs5753398	0.92[CEU][hapmap];0.88[CHB][hapmap];0.82[CHD][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753407	0.86[YRI][hapmap]
rs5753408	0.86[YRI][hapmap]
rs5753410	0.86[YRI][hapmap]
rs5997830	0.86[YRI][hapmap]
rs5997838	0.86[YRI][hapmap]
rs5997846	0.89[CEU][hapmap];0.82[GIH][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.83[YRI][hapmap]
rs7284767	0.86[YRI][hapmap]
rs7291077	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7291361	0.86[YRI][hapmap]
rs737924	0.86[YRI][hapmap]
rs8135974	0.86[YRI][hapmap]
rs9609183	0.83[YRI][hapmap]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1003480	FLJ35801	cis	multi-tissue	Pritchard
rs1003480	FBXO7	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31317600-31364000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:31319200-31347400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr22:31319200-31350800	Strong transcription	Brain Germinal Matrix	brain
4	chr22:31319200-31351800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr22:31319800-31353200	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr22:31319800-31355800	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr22:31320000-31354600	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr22:31320000-31355600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr22:31320200-31353400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr22:31320200-31354800	Strong transcription	H9 Cell Line	embryonic stem cell
11	chr22:31320200-31355600	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr22:31320200-31355800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr22:31320600-31347400	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr22:31320600-31347800	Strong transcription	Liver	Liver
15	chr22:31320600-31354400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr22:31320600-31354400	Strong transcription	HepG2	liver
17	chr22:31320800-31347000	Strong transcription	NH-A	brain
18	chr22:31320800-31352600	Strong transcription	Fetal Thymus	thymus
19	chr22:31321000-31352800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr22:31321000-31353400	Strong transcription	Fetal Intestine Large	intestine
21	chr22:31321200-31350000	Strong transcription	Fetal Lung	lung
22	chr22:31324800-31360400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr22:31325600-31351600	Strong transcription	Fetal Brain Female	brain
24	chr22:31326200-31347400	Strong transcription	NHLF	lung
25	chr22:31326200-31349600	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr22:31326200-31351800	Strong transcription	Primary B cells from peripheral blood	blood
27	chr22:31326800-31347600	Strong transcription	Fetal Kidney	kidney
28	chr22:31328200-31351000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
29	chr22:31332000-31347600	Strong transcription	Fetal Brain Male	brain
30	chr22:31337200-31352800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr22:31337400-31347400	Strong transcription	Lung	lung
32	chr22:31337800-31347600	Strong transcription	Spleen	Spleen
33	chr22:31338400-31351600	Weak transcription	Stomach Mucosa	stomach
34	chr22:31339200-31349200	Strong transcription	K562	blood
35	chr22:31339400-31347400	Strong transcription	Thymus	Thymus
36	chr22:31339800-31347800	Strong transcription	GM12878-XiMat	blood
37	chr22:31339800-31349400	Strong transcription	Dnd41	blood
38	chr22:31340000-31351000	Strong transcription	Primary B cells from cord blood	blood
39	chr22:31340200-31347200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr22:31340200-31347600	Strong transcription	Pancreas	Pancrea
41	chr22:31340200-31352800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr22:31340400-31347000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr22:31340400-31353400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr22:31340600-31346800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr22:31340600-31347400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr22:31340800-31347400	Strong transcription	HUVEC	blood vessel
47	chr22:31342400-31361000	Weak transcription	Small Intestine	intestine
48	chr22:31342600-31351600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr22:31343800-31353400	Strong transcription	Fetal Muscle Leg	muscle
50	chr22:31343800-31356400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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