Variant report

Variant	rs6889018
Chromosome Location	chr5:167903139-167903140
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13359192	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2085449	0.87[ASN][1000 genomes]
rs2337211	0.89[ASN][1000 genomes]
rs6886345	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs888773	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6889018	FBLL1	cis	Artery Tibial	GTEx
rs6889018	FBLL1	cis	Thyroid	GTEx

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167885800-167912800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr5:167892200-167913400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:167892400-167912800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr5:167893000-167904200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:167893000-167907600	Weak transcription	Esophagus	oesophagus
6	chr5:167893200-167913000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr5:167893600-167904200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr5:167894000-167912800	Weak transcription	Hela-S3	cervix
9	chr5:167895400-167912800	Weak transcription	Brain Anterior Caudate	brain
10	chr5:167896000-167913000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:167897200-167904400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:167897200-167908200	Weak transcription	Fetal Intestine Large	intestine
13	chr5:167898400-167904200	Weak transcription	Lung	lung
14	chr5:167899200-167904000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:167899200-167908400	Weak transcription	HepG2	liver
16	chr5:167900000-167903800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:167900000-167904200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:167900000-167904400	Weak transcription	Pancreas	Pancrea
19	chr5:167900000-167908400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr5:167900000-167913000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:167900200-167903800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:167900400-167903800	Weak transcription	NH-A	brain
23	chr5:167900400-167903800	Weak transcription	Osteobl	bone
24	chr5:167900400-167904000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:167900400-167904000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:167900400-167904200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:167900400-167904200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:167900400-167904200	Weak transcription	NHDF-Ad	bronchial
29	chr5:167900400-167904600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:167900400-167906200	Weak transcription	HMEC	breast
31	chr5:167900400-167906800	Weak transcription	Liver	Liver
32	chr5:167900400-167908400	Weak transcription	Fetal Intestine Small	intestine
33	chr5:167900400-167913200	Weak transcription	Gastric	stomach
34	chr5:167900600-167904000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:167900600-167904000	Weak transcription	HSMM	muscle
36	chr5:167900800-167903800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr5:167900800-167904000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:167901000-167913000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:167901000-167913000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:167901400-167912800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:167901600-167906600	Weak transcription	Fetal Brain Female	brain
42	chr5:167901600-167907800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:167901600-167908200	Weak transcription	NHEK	skin
44	chr5:167901800-167908800	Weak transcription	Placenta	Placenta
45	chr5:167902200-167913000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr5:167903000-167906200	Weak transcription	A549	lung

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