Variant report

Variant	rs7533303
Chromosome Location	chr1:95462971-95462972
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95462439..95464042-chr1:95466232..95467812,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10493880	0.88[MEX][hapmap]
rs10735790	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs10782996	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10874902	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs11585462	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs1246349	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1265169	0.82[CHB][hapmap]
rs12741128	0.84[CHB][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap]
rs2391388	0.82[CEU][hapmap];0.92[CHB][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];0.92[MEX][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2391389	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2766010	1.00[CHB][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.92[MEX][hapmap]
rs2797623	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2893274	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4259714	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4339907	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs4630159	0.84[CHB][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap]
rs4847220	1.00[CHB][hapmap];0.91[JPT][hapmap];0.98[ASN][1000 genomes]
rs4949965	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs4950058	0.84[CHB][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap]
rs6675668	1.00[ASW][hapmap];0.96[CEU][hapmap];0.84[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.96[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6687388	0.81[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap]
rs6687450	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs6694535	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6698046	1.00[CHB][hapmap];0.91[GIH][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap]
rs7537374	0.96[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7539139	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7547662	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9437672	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9437689	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs9437810	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7533303	PTBP2	cis	parietal	SCAN
rs7533303	FNBP1L	cis	parietal	SCAN
rs7533303	TMED5	cis	parietal	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95429000-95467600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr1:95447000-95490800	Weak transcription	Fetal Intestine Large	intestine
3	chr1:95448200-95491000	Weak transcription	Primary B cells from cord blood	blood
4	chr1:95452600-95467000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:95452800-95468400	Weak transcription	Fetal Intestine Small	intestine
6	chr1:95453200-95463200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:95453600-95468400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:95454000-95467600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:95455200-95473600	Weak transcription	Gastric	stomach
10	chr1:95455400-95467800	Weak transcription	Brain Substantia Nigra	brain
11	chr1:95455600-95465000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:95455600-95467600	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:95455800-95463400	Weak transcription	HSMMtube	muscle
14	chr1:95455800-95463600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:95455800-95467800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:95456200-95465000	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:95457000-95468600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr1:95459400-95465800	Weak transcription	Esophagus	oesophagus
19	chr1:95459400-95467600	Weak transcription	Ovary	ovary
20	chr1:95459600-95473000	Weak transcription	Aorta	Aorta
21	chr1:95459600-95473000	Weak transcription	Pancreas	Pancrea
22	chr1:95459800-95465000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:95460200-95467600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:95460400-95467600	Weak transcription	Right Atrium	heart
25	chr1:95460400-95467600	Weak transcription	Right Ventricle	heart
26	chr1:95460400-95467600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr1:95460400-95467800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:95460400-95478400	Weak transcription	Left Ventricle	heart
29	chr1:95460600-95465400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:95460600-95468000	Weak transcription	Adipose Nuclei	Adipose
31	chr1:95461200-95469600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr1:95461400-95468000	Weak transcription	NH-A	brain
33	chr1:95461600-95466000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr1:95461600-95467400	Weak transcription	Fetal Kidney	kidney
35	chr1:95461600-95467600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:95462000-95463800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:95462000-95464200	Weak transcription	NHLF	lung
38	chr1:95462400-95463200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:95462800-95465600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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