Variant report

Variant	rs56168499
Chromosome Location	chr5:167879121-167879122
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10038727	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10040267	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10040284	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11743260	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13158266	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13158279	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13173439	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13185713	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13189009	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2337212	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2337219	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2878915	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs29001621	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3203960	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34197361	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34468271	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34565033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34966676	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35030651	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36015366	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4576167	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4976556	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4976557	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4976611	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4976612	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62384143	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71603863	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7720379	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7737861	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534607	chr5:167661667-168454396	Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv949154	chr5:167691208-168323234	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1023985	chr5:167756193-168285807	Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv537941	chr5:167756193-168285807	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv3444818	chr5:167770667-167902204	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv970006	chr5:167870237-167924444	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56168499	FBLL1	cis	Artery Tibial	GTEx

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167812600-167896400	Weak transcription	Colonic Mucosa	Colon
2	chr5:167829000-167896800	Weak transcription	Stomach Mucosa	stomach
3	chr5:167837000-167896800	Weak transcription	Brain Hippocampus Middle	brain
4	chr5:167842000-167879200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:167850800-167895600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:167852200-167900400	Strong transcription	Liver	Liver
7	chr5:167857600-167882400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr5:167858400-167883800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr5:167860400-167882200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:167861800-167880800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:167861800-167884400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr5:167862000-167881200	Weak transcription	Lung	lung
13	chr5:167862000-167884800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr5:167862000-167897000	Weak transcription	Brain Substantia Nigra	brain
15	chr5:167862200-167891000	Weak transcription	NHDF-Ad	bronchial
16	chr5:167862800-167883600	Strong transcription	A549	lung
17	chr5:167863800-167882000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:167863800-167899600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:167864200-167879200	Weak transcription	Fetal Stomach	stomach
20	chr5:167864400-167897600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr5:167869000-167882400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr5:167869000-167884400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:167869200-167884800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:167869400-167884400	Weak transcription	Esophagus	oesophagus
25	chr5:167869800-167895600	Weak transcription	NH-A	brain
26	chr5:167871200-167881800	Weak transcription	Hela-S3	cervix
27	chr5:167871400-167881600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr5:167871800-167880000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr5:167871800-167881000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr5:167872600-167881000	Weak transcription	Pancreas	Pancrea
31	chr5:167873000-167881000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:167873600-167882200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr5:167874000-167879400	Weak transcription	Fetal Kidney	kidney
34	chr5:167874000-167879600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr5:167874000-167880200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr5:167874200-167879400	Weak transcription	Brain Anterior Caudate	brain
37	chr5:167874400-167880800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr5:167874600-167884000	Strong transcription	Fetal Intestine Small	intestine
39	chr5:167874600-167885000	Weak transcription	HMEC	breast
40	chr5:167874600-167899600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:167874800-167884200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:167875000-167896800	Weak transcription	Fetal Lung	lung
43	chr5:167875200-167880200	Weak transcription	Duodenum Mucosa	Duodenum
44	chr5:167875200-167880800	Weak transcription	Gastric	stomach
45	chr5:167875200-167889200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr5:167875400-167880400	Weak transcription	Brain Germinal Matrix	brain
47	chr5:167875400-167881600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr5:167875400-167884600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:167875400-167891400	Weak transcription	Brain Angular Gyrus	brain
50	chr5:167875600-167879200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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