Variant report

Variant	rs10493880
Chromosome Location	chr1:95426247-95426248
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10735790	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10874902	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11165299	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1146461	0.87[EUR][1000 genomes]
rs11585462	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12569207	0.80[AMR][1000 genomes]
rs1265169	0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs12741128	0.91[ASW][hapmap];0.96[CEU][hapmap];0.87[GIH][hapmap];0.95[TSI][hapmap]
rs2766003	0.89[JPT][hapmap]
rs2766010	1.00[ASW][hapmap];0.92[CEU][hapmap];0.89[GIH][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2766011	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2797616	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2797622	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34280926	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35678413	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4309032	0.80[AMR][1000 genomes]
rs4339907	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4390223	0.80[AMR][1000 genomes]
rs4630159	0.91[ASW][hapmap];0.96[CEU][hapmap];0.87[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4847220	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4949965	0.96[CEU][hapmap];0.80[AMR][1000 genomes]
rs4950058	0.91[ASW][hapmap];0.96[CEU][hapmap];0.87[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes]
rs61774262	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6675668	0.83[MEX][hapmap]
rs6683112	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6687388	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6687450	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6698046	0.92[CEU][hapmap];0.87[GIH][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7533303	0.88[MEX][hapmap]
rs9437665	0.85[EUR][1000 genomes]
rs9437689	0.85[CEU][hapmap];0.80[AMR][1000 genomes]
rs9437812	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9437813	0.80[AMR][1000 genomes]
rs9661031	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10493880	FNBP1L	cis	parietal	SCAN
rs10493880	ABCD3	cis	cerebellum	SCAN
rs10493880	PTBP2	cis	parietal	SCAN
rs10493880	TMED5	cis	parietal	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95413200-95427600	Weak transcription	Colonic Mucosa	Colon
2	chr1:95415800-95428400	Weak transcription	Lung	lung
3	chr1:95416000-95427400	Weak transcription	A549	lung
4	chr1:95421600-95428200	Weak transcription	Aorta	Aorta
5	chr1:95421600-95428200	Weak transcription	Fetal Kidney	kidney
6	chr1:95421600-95429200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:95421600-95429600	Weak transcription	Spleen	Spleen
8	chr1:95421800-95426800	Weak transcription	Adipose Nuclei	Adipose
9	chr1:95421800-95427200	Weak transcription	Stomach Mucosa	stomach
10	chr1:95421800-95427400	Weak transcription	HSMMtube	muscle
11	chr1:95421800-95427600	Weak transcription	Brain Hippocampus Middle	brain
12	chr1:95421800-95427600	Weak transcription	Fetal Lung	lung
13	chr1:95421800-95428200	Weak transcription	Right Ventricle	heart
14	chr1:95421800-95428200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr1:95421800-95428400	Weak transcription	Left Ventricle	heart
16	chr1:95422000-95426600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr1:95422000-95426800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:95422000-95426800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:95422000-95427000	Weak transcription	Fetal Intestine Small	intestine
20	chr1:95422000-95427600	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:95422000-95428200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:95422000-95428600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:95422000-95450800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:95422400-95426800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:95422400-95426800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:95422800-95428600	Weak transcription	Esophagus	oesophagus
27	chr1:95423600-95428200	Weak transcription	Fetal Heart	heart
28	chr1:95424200-95426800	Weak transcription	Liver	Liver
29	chr1:95424400-95427000	Weak transcription	Dnd41	blood
30	chr1:95424400-95427400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:95425800-95426400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:95425800-95427600	Enhancers	HepG2	liver
33	chr1:95426000-95426400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:95426000-95426400	Enhancers	Small Intestine	intestine
35	chr1:95426000-95427000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr1:95426000-95428000	Enhancers	Primary B cells from peripheral blood	blood
37	chr1:95426000-95428200	Enhancers	Placenta	Placenta
38	chr1:95426200-95426400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:95426200-95427800	Enhancers	Primary B cells from cord blood	blood
40	chr1:95426200-95428200	Enhancers	Fetal Muscle Leg	muscle
41	chr1:95426200-95428200	Enhancers	Fetal Thymus	thymus

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