Variant report

Variant	rs2195941
Chromosome Location	chr5:107220780-107220781
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10076055	0.81[CHB][hapmap];0.83[JPT][hapmap];0.81[AMR][1000 genomes]
rs1036211	0.94[CHB][hapmap];0.92[JPT][hapmap];0.96[MEX][hapmap];0.89[AMR][1000 genomes]
rs11745018	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12514763	0.85[AMR][1000 genomes]
rs12514780	0.84[ASW][hapmap];0.80[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.96[MEX][hapmap];0.85[AMR][1000 genomes]
rs12522338	0.83[CHB][hapmap]
rs12656092	1.00[CHB][hapmap];0.84[JPT][hapmap];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs35372343	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62361076	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62361079	0.91[AMR][1000 genomes]
rs72795963	0.89[AMR][1000 genomes]
rs919767	0.87[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830440	chr5:107074116-107278905	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv882682	chr5:107213361-107458336	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2195941	FBXL17	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107195400-107223200	Weak transcription	Left Ventricle	heart
2	chr5:107196800-107223200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr5:107197800-107228800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:107198000-107223000	Weak transcription	Adipose Nuclei	Adipose
5	chr5:107205800-107230000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:107206200-107221800	Weak transcription	HUVEC	blood vessel
7	chr5:107209400-107226000	Weak transcription	Psoas Muscle	Psoas
8	chr5:107211600-107221400	Weak transcription	Thymus	Thymus
9	chr5:107212000-107228800	Weak transcription	Aorta	Aorta
10	chr5:107212400-107223200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:107213000-107223200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:107213200-107225000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:107213600-107223400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:107216000-107223000	Weak transcription	Ovary	ovary
15	chr5:107216200-107223000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr5:107216400-107221000	Weak transcription	Primary T cells from cord blood	blood
17	chr5:107216400-107240600	Weak transcription	Primary B cells from cord blood	blood
18	chr5:107216600-107226200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr5:107219800-107221800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:107220000-107221000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr5:107220000-107223000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr5:107220400-107223000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:107220600-107222000	Weak transcription	Fetal Intestine Small	intestine
24	chr5:107220600-107222200	Weak transcription	Fetal Intestine Large	intestine
25	chr5:107220600-107222600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr5:107220600-107223200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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