Variant report

Variant	rs9908150
Chromosome Location	chr17:17114061-17114062
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:17114004-17114241	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:17112077..17114171-chr17:17117658..17119224,2	K562	blood:
2	chr17:17107906..17111698-chr17:17113566..17117634,4	K562	blood:
3	chr17:17110096..17111994-chr17:17113370..17116331,3	MCF-7	breast:
4	chr17:17106584..17108304-chr17:17112310..17114870,2	K562	blood:

Variant related genes	Relation type
PLD6	TF binding region
ENSG00000179598	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12453929	0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs14003	1.00[CHB][hapmap];0.85[CHD][hapmap];0.80[JPT][hapmap];0.90[ASN][1000 genomes]
rs1613416	0.85[CEU][hapmap]
rs1708627	0.81[CEU][hapmap]
rs1736202	0.81[CEU][hapmap]
rs1736214	0.83[CEU][hapmap]
rs1736219	0.88[CHD][hapmap]
rs2009478	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs2292530	0.86[ASW][hapmap]
rs3803761	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4399589	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4985705	0.85[CEU][hapmap]
rs4985749	0.94[CHB][hapmap];0.85[CHD][hapmap];0.80[JPT][hapmap];0.90[ASN][1000 genomes]
rs4985752	0.89[CEU][hapmap];0.88[CHD][hapmap];0.91[TSI][hapmap]
rs4985761	0.87[ASW][hapmap]
rs7208065	0.85[CEU][hapmap];0.88[CHD][hapmap];0.91[TSI][hapmap]
rs7218795	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8065832	0.88[CHD][hapmap]
rs8077299	0.81[ASN][1000 genomes]
rs8077796	0.99[ASN][1000 genomes]
rs9908205	0.88[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[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:13)

SNP	Gene	Cis/trans	Tissue	Source
rs9908150	FLCN	cis	cerebellum	SCAN
rs9908150	FLCN	cis	Heart Left Ventricle	GTEx
rs9908150	FLCN	cis	Esophagus Mucosa	GTEx
rs9908150	FLCN	cis	lung	GTEx
rs9908150	RASD1	cis	parietal	SCAN
rs9908150	FLCN	cis	Thyroid	GTEx
rs9908150	FLCN	cis	Esophagus Muscularis	GTEx
rs9908150	TOM1L2	cis	cerebellum	SCAN
rs9908150	FLCN	cis	lymphoblastoid	seeQTL
rs9908150	FLCN	cis	Artery Tibial	GTEx
rs9908150	RAI1	cis	cerebellum	SCAN
rs9908150	FLCN	cis	parietal	SCAN
rs9908150	FLCN	cis	Nerve Tibial	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17105000-17116200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:17109400-17114600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr17:17109400-17120400	Weak transcription	Fetal Kidney	kidney
4	chr17:17109400-17131600	Weak transcription	Fetal Heart	heart
5	chr17:17109600-17114200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr17:17109600-17114400	Weak transcription	Primary T cells from cord blood	blood
7	chr17:17109600-17114600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr17:17109600-17114800	Weak transcription	Aorta	Aorta
9	chr17:17109600-17115400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr17:17109600-17115400	Weak transcription	GM12878-XiMat	blood
11	chr17:17109600-17116000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr17:17109600-17116200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr17:17109600-17116200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr17:17109600-17116200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr17:17109600-17116400	Weak transcription	Small Intestine	intestine
16	chr17:17109600-17118200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr17:17109600-17124200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr17:17109800-17114600	Weak transcription	Primary B cells from cord blood	blood
19	chr17:17109800-17114600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr17:17109800-17114600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr17:17109800-17115600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr17:17109800-17116000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr17:17109800-17116200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr17:17109800-17116200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr17:17109800-17116600	Weak transcription	HUVEC	blood vessel
26	chr17:17109800-17117200	Weak transcription	Psoas Muscle	Psoas
27	chr17:17109800-17123200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr17:17110000-17114400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr17:17110000-17114400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr17:17110000-17114400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr17:17110000-17114600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr17:17110000-17114600	Weak transcription	Fetal Brain Female	brain
33	chr17:17110000-17114800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr17:17110000-17114800	Weak transcription	Thymus	Thymus
35	chr17:17110000-17116600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr17:17110000-17121000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr17:17110200-17114600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr17:17110200-17114800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr17:17110200-17115000	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr17:17110200-17116000	Weak transcription	Primary B cells from peripheral blood	blood
41	chr17:17110200-17116200	Weak transcription	Brain Germinal Matrix	brain
42	chr17:17110200-17117000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr17:17110400-17114200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr17:17110400-17114200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr17:17110400-17114200	Weak transcription	Right Ventricle	heart
46	chr17:17110400-17114200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr17:17110400-17114200	Weak transcription	Spleen	Spleen
48	chr17:17110400-17114200	Weak transcription	Dnd41	blood
49	chr17:17110400-17114400	Weak transcription	Gastric	stomach
50	chr17:17110400-17114400	Weak transcription	Lung	lung

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