Variant report

Variant	rs1692182
Chromosome Location	chr1:213090297-213090298
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:213081058..213082812-chr1:213090244..213092808,2	K562	blood:
2	chr1:213088698..213090352-chr1:213094141..213096256,2	K562	blood:
3	chr1:213088750..213091393-chr1:213108145..213110146,2	K562	blood:

Extended variants
information (count: 2 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6666277	0.89[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	nsv1008383	chr1:213025546-213114894	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs1692182	FLVCR1-AS1	cis	Esophagus Mucosa	GTEx
rs1692182	FLVCR1	Cis_1M	lymphoblastoid	RTeQTL
rs1692182	FLVCR1-AS1	cis	lung	GTEx
rs1692182	FLVCR1-AS1	cis	Artery Aorta	GTEx
rs1692182	FLVCR1-AS1	cis	Adipose Subcutaneous	GTEx
rs1692182	FLVCR1-AS1	cis	Thyroid	GTEx
rs1692182	FLVCR1-AS1	cis	Heart Left Ventricle	GTEx
rs1692182	FLVCR1	cis	multi-tissue	Pritchard
rs1692182	FLVCR1-AS1	cis	Artery Tibial	GTEx
rs1692182	LQK1	Cis_1M	lymphoblastoid	RTeQTL
rs1692182	FLVCR1-AS1	cis	Esophagus Muscularis	GTEx
rs1692182	FLVCR1-AS1	cis	Whole Blood	GTEx
rs1692182	FLVCR1-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs1692182	FLVCR1-AS1	cis	Nerve Tibial	GTEx

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213086800-213094400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:213088000-213090400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:213088000-213090400	Enhancers	Fetal Brain Male	brain
4	chr1:213088000-213090600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:213088000-213090600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:213088000-213090800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr1:213088200-213090600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:213088200-213090600	Enhancers	Fetal Muscle Trunk	muscle
9	chr1:213088400-213090400	Enhancers	Fetal Lung	lung
10	chr1:213088400-213090600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:213088400-213090600	Enhancers	K562	blood
12	chr1:213088400-213090800	Enhancers	GM12878-XiMat	blood
13	chr1:213088600-213090400	Enhancers	Brain Angular Gyrus	brain
14	chr1:213088600-213090400	Enhancers	Placenta	Placenta
15	chr1:213088800-213090800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr1:213089000-213090400	Enhancers	Right Ventricle	heart
17	chr1:213089000-213090600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:213089000-213090600	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr1:213089000-213090600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:213089200-213090400	Enhancers	Spleen	Spleen
21	chr1:213089400-213090600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr1:213089400-213091600	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr1:213089600-213090400	Enhancers	Primary hematopoietic stem cells	blood
24	chr1:213089600-213090400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:213089600-213090400	Bivalent Enhancer	Fetal Stomach	stomach
26	chr1:213089600-213090400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
27	chr1:213089600-213090600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:213089600-213090600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:213089600-213090600	Enhancers	Ovary	ovary
30	chr1:213089600-213090600	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr1:213089600-213090800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr1:213089800-213090400	Active TSS	Stomach Smooth Muscle	stomach
33	chr1:213089800-213090600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr1:213089800-213090600	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr1:213089800-213090600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
36	chr1:213089800-213090600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr1:213089800-213090600	Enhancers	Fetal Thymus	thymus
38	chr1:213089800-213090600	Enhancers	HMEC	breast
39	chr1:213090000-213090400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
40	chr1:213090000-213090400	Enhancers	Primary B cells from peripheral blood	blood
41	chr1:213090000-213090400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
42	chr1:213090000-213090400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr1:213090000-213090400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:213090000-213090400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:213090000-213090400	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr1:213090000-213090400	Active TSS	Fetal Kidney	kidney
47	chr1:213090000-213090400	Flanking Active TSS	Fetal Muscle Leg	muscle
48	chr1:213090000-213090600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
49	chr1:213090000-213090600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:213090000-213090600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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