Variant report

Variant	rs8066234
Chromosome Location	chr17:17099717-17099718
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17097117..17100112-chr17:17107418..17111095,3	K562	blood:
2	chr17:17099063..17102775-chr17:17103264..17109484,6	K562	blood:
3	chr17:17089073..17091555-chr17:17099626..17102216,2	K562	blood:
4	chr17:17098202..17101244-chr17:17105252..17107774,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133030	Chromatin interaction
ENSG00000179598	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1047799	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1047805	0.94[ASN][1000 genomes]
rs10852844	0.80[ASN][1000 genomes]
rs10852846	0.91[ASN][1000 genomes]
rs11078371	0.94[CHB][hapmap];1.00[CHD][hapmap]
rs11078372	0.80[ASN][1000 genomes]
rs11078373	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1110505	0.94[ASN][1000 genomes]
rs11551189	0.94[ASN][1000 genomes]
rs11651938	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11652678	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11654887	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11657189	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11870035	0.92[ASN][1000 genomes]
rs11870483	0.83[ASN][1000 genomes]
rs12601422	0.88[CHB][hapmap];0.83[CHD][hapmap]
rs12602583	0.94[ASN][1000 genomes]
rs12602592	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1567815	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17794784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2292526	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2292530	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2349645	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2349648	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28452405	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34001712	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34976658	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3744125	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3744127	0.94[ASN][1000 genomes]
rs3744131	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3744132	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3744134	0.85[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3744136	0.94[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs3744137	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3744138	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3744139	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3826305	0.94[ASN][1000 genomes]
rs4073688	0.83[CHB][hapmap];0.97[CHD][hapmap]
rs4074612	0.94[CHB][hapmap]
rs4074819	0.90[ASN][1000 genomes]
rs4283273	0.94[ASN][1000 genomes]
rs4321246	0.90[ASN][1000 genomes]
rs4629023	0.94[CHB][hapmap];1.00[CHD][hapmap]
rs4985703	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4985704	0.84[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4985721	0.81[ASN][1000 genomes]
rs4985730	0.83[ASN][1000 genomes]
rs4985737	0.94[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs4985741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4985742	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4985743	0.94[ASN][1000 genomes]
rs4985745	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56133536	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58326998	0.91[ASN][1000 genomes]
rs59394251	0.91[ASN][1000 genomes]
rs7211576	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7214429	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7216677	0.90[ASN][1000 genomes]
rs7218781	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs8066111	0.86[ASN][1000 genomes]
rs8069259	0.89[ASN][1000 genomes]
rs8077360	0.90[ASN][1000 genomes]
rs9893676	0.94[ASN][1000 genomes]
rs9895060	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9897510	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9910857	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs8066234	M-RIP	Cis_1M	lymphoblastoid	RTeQTL
rs8066234	FLCN	cis	cerebellum	SCAN
rs8066234	TOM1L2	cis	cerebellum	SCAN
rs8066234	FLCN	cis	parietal	SCAN
rs8066234	ZNF624	cis	parietal	SCAN

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17076600-17104600	Weak transcription	K562	blood
2	chr17:17086400-17104800	Weak transcription	Brain Substantia Nigra	brain
3	chr17:17086400-17106600	Weak transcription	Colonic Mucosa	Colon
4	chr17:17090200-17107000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr17:17090200-17107400	Weak transcription	Small Intestine	intestine
6	chr17:17090800-17106600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr17:17090800-17106600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr17:17090800-17107200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr17:17091200-17104400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr17:17091400-17104000	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr17:17091800-17107600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr17:17092200-17105400	Weak transcription	Gastric	stomach
13	chr17:17092400-17104200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr17:17092400-17105600	Weak transcription	Brain Germinal Matrix	brain
15	chr17:17093000-17104800	Weak transcription	Hela-S3	cervix
16	chr17:17093600-17102400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr17:17093600-17103400	Weak transcription	Fetal Thymus	thymus
18	chr17:17093600-17104400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr17:17093600-17107400	Weak transcription	Dnd41	blood
20	chr17:17093600-17108400	Weak transcription	Thymus	Thymus
21	chr17:17093800-17103400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr17:17093800-17104000	Weak transcription	Fetal Intestine Small	intestine
23	chr17:17093800-17104200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr17:17093800-17105400	Weak transcription	Pancreas	Pancrea
25	chr17:17093800-17105600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr17:17093800-17105600	Weak transcription	Esophagus	oesophagus
27	chr17:17093800-17107400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr17:17093800-17107600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr17:17094000-17103400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr17:17094000-17104600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr17:17094000-17107200	Weak transcription	Aorta	Aorta
32	chr17:17094200-17100600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr17:17094200-17100600	Weak transcription	Fetal Lung	lung
34	chr17:17094200-17104800	Weak transcription	HepG2	liver
35	chr17:17094400-17103200	Weak transcription	Primary T cells from cord blood	blood
36	chr17:17094800-17100200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr17:17095000-17100400	Weak transcription	NHEK	skin
38	chr17:17095000-17104600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr17:17095000-17104800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr17:17095000-17104800	Weak transcription	Right Ventricle	heart
41	chr17:17095000-17105600	Weak transcription	Right Atrium	heart
42	chr17:17095200-17099800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr17:17095200-17104600	Weak transcription	Lung	lung
44	chr17:17095200-17104600	Weak transcription	Spleen	Spleen
45	chr17:17095200-17105800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr17:17095200-17108400	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr17:17095400-17102800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr17:17095400-17104600	Weak transcription	Fetal Brain Female	brain
49	chr17:17095400-17108200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr17:17095600-17100000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links