Variant report

Variant	rs8080386
Chromosome Location	chr17:17121624-17121625
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17121039..17123215-chr17:17134749..17137620,2	K562	blood:
2	chr17:17121039..17123712-chr17:17133304..17136249,2	K562	blood:

Variant related genes	Relation type
ENSG00000154803	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs12453455	1.00[CHB][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs12600589	0.84[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12949822	0.80[ASN][1000 genomes]
rs1613416	1.00[MEX][hapmap]
rs1630656	0.92[CHB][hapmap];0.96[CHD][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs1708617	0.99[ASN][1000 genomes]
rs1708618	0.91[MEX][hapmap]
rs1708621	0.99[ASN][1000 genomes]
rs1708624	0.93[ASN][1000 genomes]
rs1708628	0.92[CHB][hapmap];0.96[CHD][hapmap]
rs1736202	0.95[MEX][hapmap]
rs1736204	0.92[CHB][hapmap];0.96[CHD][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs1736205	0.92[CHB][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs1736208	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1736209	0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1736211	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1736212	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1736213	0.85[AMR][1000 genomes]
rs1736216	0.92[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1736217	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1736218	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1736221	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2012954	0.92[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs2018781	0.99[ASN][1000 genomes]
rs2292527	0.84[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2472689	0.92[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs36079048	0.94[ASN][1000 genomes]
rs3866959	0.92[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs4985705	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4985752	0.87[MEX][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs4985760	0.92[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs62066066	0.80[ASN][1000 genomes]
rs6502564	0.92[CHB][hapmap];0.82[CHD][hapmap];0.86[ASN][1000 genomes]
rs6502568	0.93[ASN][1000 genomes]
rs6502569	0.93[ASN][1000 genomes]
rs6502570	0.90[ASN][1000 genomes]
rs7208065	1.00[MEX][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7220577	0.92[CHB][hapmap];0.96[CHD][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs7221553	0.90[ASN][1000 genomes]
rs7224598	0.92[ASN][1000 genomes]
rs7225876	0.93[ASN][1000 genomes]
rs8066090	0.93[ASN][1000 genomes]
rs9892352	0.93[ASN][1000 genomes]
rs9894565	0.92[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][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	nsv833380	chr17:17088416-17241206	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1065811	chr17:17104760-17225204	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs8080386	FLCN	cis	Esophagus Mucosa	GTEx
rs8080386	FLCN	cis	Heart Left Ventricle	GTEx
rs8080386	FLCN	cis	parietal	SCAN
rs8080386	RASD1	cis	parietal	SCAN
rs8080386	COPS3	cis	Whole Blood	GTEx
rs8080386	FLCN	cis	Artery Aorta	GTEx
rs8080386	FLCN	cis	Esophagus Muscularis	GTEx
rs8080386	FLCN	cis	Artery Tibial	GTEx
rs8080386	B9D1	cis	cerebellum	SCAN
rs8080386	RAI1	cis	cerebellum	SCAN
rs8080386	FLCN	cis	multi-tissue	Pritchard
rs8080386	FLCN	cis	lung	GTEx
rs8080386	FLCN	cis	Thyroid	GTEx
rs8080386	SMCR8	cis	cerebellum	SCAN
rs8080386	COPS3	cis	multi-tissue	Pritchard
rs8080386	FLCN	cis	cerebellum	SCAN
rs8080386	TOM1L2	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17109400-17131600	Weak transcription	Fetal Heart	heart
2	chr17:17109600-17124200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:17109800-17123200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr17:17113200-17135200	Strong transcription	Fetal Intestine Small	intestine
5	chr17:17113200-17136600	Strong transcription	Fetal Stomach	stomach
6	chr17:17113400-17131400	Strong transcription	Brain Anterior Caudate	brain
7	chr17:17113400-17131400	Strong transcription	Brain Substantia Nigra	brain
8	chr17:17113400-17134600	Strong transcription	Fetal Muscle Trunk	muscle
9	chr17:17113400-17136200	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr17:17113800-17134600	Strong transcription	Fetal Muscle Leg	muscle
11	chr17:17113800-17137600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr17:17114000-17122600	Strong transcription	A549	lung
13	chr17:17114000-17131200	Strong transcription	Liver	Liver
14	chr17:17114000-17131200	Strong transcription	Left Ventricle	heart
15	chr17:17114000-17134800	Strong transcription	Fetal Intestine Large	intestine
16	chr17:17114000-17135200	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr17:17114000-17136200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr17:17114000-17136200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr17:17114000-17136400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr17:17114000-17136400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:17114000-17136400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr17:17114000-17136400	Strong transcription	Placenta	Placenta
23	chr17:17114000-17136600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr17:17114200-17131600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr17:17114200-17131600	Strong transcription	Spleen	Spleen
26	chr17:17114200-17136600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr17:17114400-17131400	Strong transcription	Lung	lung
28	chr17:17114400-17136200	Strong transcription	Primary T cells from cord blood	blood
29	chr17:17114400-17136200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr17:17114400-17136400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr17:17114400-17136600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr17:17114600-17134800	Strong transcription	Duodenum Mucosa	Duodenum
33	chr17:17114600-17136000	Strong transcription	Fetal Brain Female	brain
34	chr17:17114600-17136200	Strong transcription	NHLF	lung
35	chr17:17114600-17136400	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr17:17114600-17136400	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr17:17114600-17136400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr17:17114600-17136400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr17:17114600-17136400	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr17:17114600-17136400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr17:17114600-17136600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr17:17114800-17131800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr17:17114800-17136400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr17:17114800-17136400	Strong transcription	Osteobl	bone
45	chr17:17115000-17136200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr17:17115000-17136200	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr17:17115200-17139600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr17:17115400-17136200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr17:17115600-17130600	Strong transcription	NH-A	brain
50	chr17:17115600-17136400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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