Variant report

Variant	rs34235236
Chromosome Location	chr17:17118442-17118443
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17116103..17119512-chr17:17125606..17128978,3	K562	blood:
2	chr17:17107906..17110805-chr17:17116134..17118817,2	K562	blood:
3	chr17:17110808..17112526-chr17:17116774..17118716,2	MCF-7	breast:
4	chr17:17115727..17117859-chr17:17118196..17119730,2	K562	blood:
5	chr17:17112077..17114171-chr17:17117658..17119224,2	K562	blood:
6	chr17:17118077..17119749-chr17:17137334..17140108,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000179598	Chromatin interaction
ENSG00000266498	Chromatin interaction
ENSG00000154803	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11654778	1.00[ASN][1000 genomes]
rs11869409	1.00[ASN][1000 genomes]
rs12951281	1.00[ASN][1000 genomes]
rs34121330	1.00[ASN][1000 genomes]
rs34668117	1.00[ASN][1000 genomes]
rs35039203	1.00[ASN][1000 genomes]
rs35554631	1.00[ASN][1000 genomes]
rs41323249	1.00[ASN][1000 genomes]
rs41340844	1.00[ASN][1000 genomes]
rs41400246	1.00[ASN][1000 genomes]
rs41424546	1.00[ASN][1000 genomes]
rs41525346	1.00[ASN][1000 genomes]
rs55836267	1.00[ASN][1000 genomes]
rs67632718	1.00[ASN][1000 genomes]
rs7224172	1.00[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34235236	FLCN	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17109400-17120400	Weak transcription	Fetal Kidney	kidney
2	chr17:17109400-17131600	Weak transcription	Fetal Heart	heart
3	chr17:17109600-17124200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr17:17109800-17123200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr17:17110000-17121000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr17:17110400-17120400	Weak transcription	Hela-S3	cervix
7	chr17:17110800-17120000	Weak transcription	K562	blood
8	chr17:17111800-17120600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr17:17113200-17135200	Strong transcription	Fetal Intestine Small	intestine
10	chr17:17113200-17136600	Strong transcription	Fetal Stomach	stomach
11	chr17:17113400-17131400	Strong transcription	Brain Anterior Caudate	brain
12	chr17:17113400-17131400	Strong transcription	Brain Substantia Nigra	brain
13	chr17:17113400-17134600	Strong transcription	Fetal Muscle Trunk	muscle
14	chr17:17113400-17136200	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr17:17113800-17134600	Strong transcription	Fetal Muscle Leg	muscle
16	chr17:17113800-17137600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr17:17114000-17122600	Strong transcription	A549	lung
18	chr17:17114000-17131200	Strong transcription	Liver	Liver
19	chr17:17114000-17131200	Strong transcription	Left Ventricle	heart
20	chr17:17114000-17134800	Strong transcription	Fetal Intestine Large	intestine
21	chr17:17114000-17135200	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr17:17114000-17136200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr17:17114000-17136200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr17:17114000-17136400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr17:17114000-17136400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr17:17114000-17136400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr17:17114000-17136400	Strong transcription	Placenta	Placenta
28	chr17:17114000-17136600	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr17:17114200-17131600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr17:17114200-17131600	Strong transcription	Spleen	Spleen
31	chr17:17114200-17136600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr17:17114400-17131400	Strong transcription	Lung	lung
33	chr17:17114400-17136200	Strong transcription	Primary T cells from cord blood	blood
34	chr17:17114400-17136200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr17:17114400-17136400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr17:17114400-17136600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr17:17114600-17121000	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr17:17114600-17121600	Strong transcription	Primary B cells from cord blood	blood
39	chr17:17114600-17134800	Strong transcription	Duodenum Mucosa	Duodenum
40	chr17:17114600-17136000	Strong transcription	Fetal Brain Female	brain
41	chr17:17114600-17136200	Strong transcription	NHLF	lung
42	chr17:17114600-17136400	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr17:17114600-17136400	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr17:17114600-17136400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr17:17114600-17136400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr17:17114600-17136400	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr17:17114600-17136400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr17:17114600-17136600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr17:17114800-17118600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr17:17114800-17131800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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