Variant report

Variant	rs12188414
Chromosome Location	chr5:107196959-107196960
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12189428	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12515389	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12519254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12519388	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12522548	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12522552	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1368441	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17160630	0.83[EUR][1000 genomes]
rs17160662	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17160676	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17160677	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17160706	0.85[CEU][hapmap];0.83[CHB][hapmap]
rs17369104	0.85[CEU][hapmap]
rs34990078	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35343876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57060622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61749621	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7716800	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7718258	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12188414	FBXL17	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107189000-107204000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:107189000-107212200	Weak transcription	Fetal Brain Male	brain
3	chr5:107192800-107197200	Weak transcription	Primary T cells from cord blood	blood
4	chr5:107194000-107219000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:107195200-107197400	Weak transcription	Right Ventricle	heart
6	chr5:107195200-107214800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr5:107195400-107197400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:107195400-107197400	Weak transcription	Gastric	stomach
9	chr5:107195400-107204800	Weak transcription	Brain Anterior Caudate	brain
10	chr5:107195400-107205000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:107195400-107207600	Weak transcription	Spleen	Spleen
12	chr5:107195400-107208600	Weak transcription	Brain Hippocampus Middle	brain
13	chr5:107195400-107211600	Weak transcription	Aorta	Aorta
14	chr5:107195400-107214200	Weak transcription	Primary B cells from cord blood	blood
15	chr5:107195400-107215000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr5:107195400-107215000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr5:107195400-107217800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:107195400-107220000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr5:107195400-107223200	Weak transcription	Left Ventricle	heart
20	chr5:107195600-107197400	Weak transcription	Pancreas	Pancrea
21	chr5:107195600-107204600	Weak transcription	Fetal Stomach	stomach
22	chr5:107195800-107214400	Weak transcription	Fetal Intestine Small	intestine
23	chr5:107195800-107218200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr5:107196000-107199200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr5:107196000-107204200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr5:107196000-107210800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:107196200-107199000	Weak transcription	Dnd41	blood
28	chr5:107196200-107200200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:107196400-107200800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr5:107196400-107202600	Weak transcription	Placenta	Placenta
31	chr5:107196800-107197400	Strong transcription	Esophagus	oesophagus
32	chr5:107196800-107197600	Strong transcription	Ovary	ovary
33	chr5:107196800-107197800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:107196800-107197800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr5:107196800-107198000	Strong transcription	Adipose Nuclei	Adipose
36	chr5:107196800-107198000	Strong transcription	Duodenum Mucosa	Duodenum
37	chr5:107196800-107198200	Strong transcription	Liver	Liver
38	chr5:107196800-107203400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr5:107196800-107205000	Weak transcription	HSMM	muscle
40	chr5:107196800-107223200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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