Variant report

Variant	rs7218992
Chromosome Location	chr17:17115633-17115634
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17107906..17111698-chr17:17113566..17117634,4	K562	blood:
2	chr17:17115314..17118289-chr17:17131903..17134654,2	K562	blood:
3	chr17:17110096..17111994-chr17:17113370..17116331,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000179598	Chromatin interaction
ENSG00000154803	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4985750	0.94[EUR][1000 genomes]
rs7223831	0.82[AFR][1000 genomes]
rs8067893	0.95[EUR][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7218992	FLCN	cis	Artery Tibial	GTEx

Chromatin state (count:125 , 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	chr17:17109400-17120400	Weak transcription	Fetal Kidney	kidney
3	chr17:17109400-17131600	Weak transcription	Fetal Heart	heart
4	chr17:17109600-17116000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr17:17109600-17116200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr17:17109600-17116200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr17:17109600-17116200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr17:17109600-17116400	Weak transcription	Small Intestine	intestine
9	chr17:17109600-17118200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr17:17109600-17124200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr17:17109800-17116000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr17:17109800-17116200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr17:17109800-17116200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr17:17109800-17116600	Weak transcription	HUVEC	blood vessel
15	chr17:17109800-17117200	Weak transcription	Psoas Muscle	Psoas
16	chr17:17109800-17123200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr17:17110000-17116600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr17:17110000-17121000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr17:17110200-17116000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr17:17110200-17116200	Weak transcription	Brain Germinal Matrix	brain
21	chr17:17110200-17117000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr17:17110400-17116000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr17:17110400-17116200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr17:17110400-17116200	Weak transcription	Colonic Mucosa	Colon
25	chr17:17110400-17116200	Weak transcription	Fetal Thymus	thymus
26	chr17:17110400-17116200	Weak transcription	Ovary	ovary
27	chr17:17110400-17116200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr17:17110400-17116400	Weak transcription	Fetal Brain Male	brain
29	chr17:17110400-17116400	Weak transcription	Stomach Mucosa	stomach
30	chr17:17110400-17116800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr17:17110400-17120400	Weak transcription	Hela-S3	cervix
32	chr17:17110600-17116000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr17:17110600-17116200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr17:17110600-17116200	Weak transcription	Pancreas	Pancrea
35	chr17:17110600-17116200	Weak transcription	HepG2	liver
36	chr17:17110600-17116200	Weak transcription	HMEC	breast
37	chr17:17110600-17116200	Weak transcription	NHEK	skin
38	chr17:17110800-17116200	Weak transcription	NHDF-Ad	bronchial
39	chr17:17110800-17120000	Weak transcription	K562	blood
40	chr17:17111200-17116200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr17:17111600-17116200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr17:17111800-17120600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr17:17113200-17116200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr17:17113200-17116400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr17:17113200-17135200	Strong transcription	Fetal Intestine Small	intestine
46	chr17:17113200-17136600	Strong transcription	Fetal Stomach	stomach
47	chr17:17113400-17116000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr17:17113400-17131400	Strong transcription	Brain Anterior Caudate	brain
49	chr17:17113400-17131400	Strong transcription	Brain Substantia Nigra	brain
50	chr17:17113400-17134600	Strong transcription	Fetal Muscle Trunk	muscle

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