Variant report

Variant	rs2689705
Chromosome Location	chr10:95934764-95934765
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1223635	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs1343094	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs17417407	0.84[EUR][1000 genomes]
rs17515035	0.84[EUR][1000 genomes]
rs1776942	0.82[EUR][1000 genomes]
rs1776946	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2689700	0.95[GIH][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs2764339	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2764345	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2797982	0.84[EUR][1000 genomes]
rs2797985	0.81[EUR][1000 genomes]
rs4277037	0.83[EUR][1000 genomes]
rs58730112	0.82[EUR][1000 genomes]
rs60208943	0.84[EUR][1000 genomes]
rs7082818	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036676	chr10:95851376-96103876	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2689705	AVPI1	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:95924800-95947200	Weak transcription	Aorta	Aorta
2	chr10:95925800-95938000	Weak transcription	A549	lung
3	chr10:95929000-95954200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr10:95929200-95966800	Weak transcription	Pancreas	Pancrea
5	chr10:95929800-95936800	Weak transcription	Fetal Lung	lung
6	chr10:95931600-95938200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr10:95931600-95953000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr10:95931800-95952600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr10:95932000-95940600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr10:95932000-95944200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr10:95932000-95948800	Weak transcription	Gastric	stomach
12	chr10:95932000-95953000	Weak transcription	Colonic Mucosa	Colon
13	chr10:95932400-95938000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr10:95932400-95939000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr10:95932600-95935800	Weak transcription	Fetal Intestine Small	intestine
16	chr10:95932600-95936600	Weak transcription	Fetal Stomach	stomach
17	chr10:95932600-95968000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr10:95932800-95940600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr10:95932800-95954200	Weak transcription	Fetal Brain Female	brain
20	chr10:95933000-95953000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr10:95933000-95954200	Weak transcription	Right Atrium	heart
22	chr10:95933000-95972600	Weak transcription	Fetal Intestine Large	intestine
23	chr10:95933200-95936000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr10:95933200-95937800	Weak transcription	Fetal Muscle Leg	muscle
25	chr10:95934200-95935000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr10:95934200-95935200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr10:95934400-95934800	Enhancers	Ovary	ovary
28	chr10:95934600-95936400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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