Variant report

Variant	rs8066090
Chromosome Location	chr17:17138381-17138382
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr17:17138108-17138635	A549	lung:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17131671..17134526-chr17:17137834..17141080,5	MCF-7	breast:
2	chr17:17138230..17139977-chr17:17206965..17208705,2	K562	blood:
3	chr17:17134971..17137251-chr17:17137733..17141244,3	K562	blood:
4	chr17:17107445..17110008-chr17:17138195..17140495,3	K562	blood:
5	chr17:17137888..17140600-chr17:17205281..17208205,3	MCF-7	breast:
6	chr17:17138181..17140588-chr17:17182569..17184810,2	K562	blood:
7	chr17:17138280..17141930-chr17:17183181..17187644,4	MCF-7	breast:

No data

Variant related genes	Relation type
FLCN	TF binding region
ENSG00000154803	Chromatin interaction
ENSG00000179598	Chromatin interaction
ENSG00000205309	Chromatin interaction
ENSG00000141030	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11078378	0.81[EUR][1000 genomes]
rs12453455	0.94[ASN][1000 genomes]
rs12600589	0.93[ASN][1000 genomes]
rs12949822	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1630656	0.94[ASN][1000 genomes]
rs1708617	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1708621	0.94[ASN][1000 genomes]
rs1708624	0.94[ASN][1000 genomes]
rs1736204	0.94[ASN][1000 genomes]
rs1736205	0.94[ASN][1000 genomes]
rs1736208	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1736209	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1736211	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1736212	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1736216	0.94[ASN][1000 genomes]
rs1736217	0.94[ASN][1000 genomes]
rs1736218	0.83[ASN][1000 genomes]
rs1736221	0.93[ASN][1000 genomes]
rs2012954	0.92[ASN][1000 genomes]
rs2018781	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2292527	0.90[ASN][1000 genomes]
rs2349865	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2472689	0.87[ASN][1000 genomes]
rs36079048	0.90[ASN][1000 genomes]
rs3866959	0.94[ASN][1000 genomes]
rs4985760	0.94[ASN][1000 genomes]
rs62066066	0.81[ASN][1000 genomes]
rs6502564	0.83[ASN][1000 genomes]
rs6502568	0.94[ASN][1000 genomes]
rs6502569	0.94[ASN][1000 genomes]
rs6502570	0.92[ASN][1000 genomes]
rs6502571	0.80[ASN][1000 genomes]
rs7220577	0.94[ASN][1000 genomes]
rs7221553	0.92[ASN][1000 genomes]
rs7224598	0.93[ASN][1000 genomes]
rs7225876	0.94[ASN][1000 genomes]
rs8080386	0.93[ASN][1000 genomes]
rs9892352	0.94[ASN][1000 genomes]
rs9894565	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
3	nsv833382	chr17:17124329-17305683	Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv469777	chr17:17127385-17272698	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv482546	chr17:17127385-17272698	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS 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	19 gene(s)	inside rSNPs	diseases
6	esv1004208	chr17:17136933-17147885	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17115200-17139600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:17126200-17138600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr17:17128600-17138800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr17:17129400-17138800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr17:17130000-17139000	Weak transcription	Fetal Kidney	kidney
6	chr17:17130600-17138600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr17:17132400-17138800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr17:17133400-17138600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr17:17133400-17138600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr17:17133600-17138600	Weak transcription	K562	blood
11	chr17:17133600-17138800	Weak transcription	Stomach Mucosa	stomach
12	chr17:17135000-17138800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr17:17135200-17138800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:17135400-17138600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr17:17135400-17138800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr17:17135400-17138800	Weak transcription	HUVEC	blood vessel
17	chr17:17135400-17139000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr17:17135400-17139400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr17:17135600-17138600	Weak transcription	Fetal Lung	lung
20	chr17:17135600-17138800	Weak transcription	Fetal Brain Male	brain
21	chr17:17135600-17139000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr17:17135800-17138600	Weak transcription	HSMM	muscle
23	chr17:17135800-17138800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr17:17135800-17138800	Weak transcription	Esophagus	oesophagus
25	chr17:17135800-17138800	Weak transcription	Right Ventricle	heart
26	chr17:17135800-17138800	Weak transcription	Thymus	Thymus
27	chr17:17136000-17138600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr17:17136000-17138600	Weak transcription	Fetal Brain Female	brain
29	chr17:17136000-17138800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr17:17136000-17138800	Weak transcription	Colonic Mucosa	Colon
31	chr17:17136000-17138800	Weak transcription	Psoas Muscle	Psoas
32	chr17:17136000-17138800	Weak transcription	Small Intestine	intestine
33	chr17:17136200-17138400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr17:17136200-17138400	Weak transcription	Spleen	Spleen
35	chr17:17136200-17138600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr17:17136200-17138600	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr17:17136200-17138600	Weak transcription	Primary B cells from cord blood	blood
38	chr17:17136200-17138600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr17:17136200-17138600	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr17:17136200-17138600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr17:17136200-17138600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr17:17136200-17138600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr17:17136200-17138600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr17:17136200-17138600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr17:17136200-17138600	Enhancers	HepG2	liver
46	chr17:17136200-17138600	Weak transcription	NH-A	brain
47	chr17:17136200-17138600	Weak transcription	NHLF	lung
48	chr17:17136200-17138800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr17:17136200-17138800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr17:17136200-17138800	Weak transcription	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links