Variant report

Variant	rs7217091
Chromosome Location	chr17:17060805-17060806
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 8 )

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

rs_ID	r²[population]
rs10852847	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11078374	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11867932	1.00[CHB][hapmap]
rs11867934	0.89[AMR][1000 genomes]
rs11871902	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs171394	1.00[CHB][hapmap]
rs1974721	0.82[AMR][1000 genomes]
rs2090018	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271520	1.00[ASW][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];0.91[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2349646	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28461224	1.00[ASN][1000 genomes]
rs4247118	1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4247120	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4275914	1.00[ASN][1000 genomes]
rs4514740	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4985696	1.00[ASN][1000 genomes]
rs4985701	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985702	1.00[ASW][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];0.91[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985717	1.00[ASN][1000 genomes]
rs4985740	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985746	1.00[ASN][1000 genomes]
rs4985778	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6502563	1.00[CHB][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7206981	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7207485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7208929	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7208973	1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7210879	0.80[EUR][1000 genomes]
rs7220827	1.00[CHB][hapmap]
rs7221842	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7222311	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8064550	1.00[ASW][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8072184	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs8073842	1.00[CHB][hapmap];0.85[MEX][hapmap];0.82[TSI][hapmap];1.00[ASN][1000 genomes]
rs8079563	1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9893911	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9898995	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9908767	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9914671	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907728	chr17:17013189-17095487	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv524958	chr17:17029718-17060805	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv962453	chr17:17060402-17074198	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs7217091	ULK2	cis	cerebellum	SCAN
rs7217091	TRPV2	cis	cerebellum	SCAN
rs7217091	UBB	cis	cerebellum	SCAN
rs7217091	FBXO48	trans	cerebellum	SCAN
rs7217091	TOM1L2	cis	cerebellum	SCAN
rs7217091	M-RIP	cis	multi-tissue	Pritchard
rs7217091	FLCN	cis	cerebellum	SCAN
rs7217091	LOC162632	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17029800-17088400	Strong transcription	Dnd41	blood
2	chr17:17030000-17088000	Strong transcription	Duodenum Mucosa	Duodenum
3	chr17:17030400-17079200	Strong transcription	Sigmoid Colon	Sigmoid Colon
4	chr17:17030400-17089200	Strong transcription	Fetal Intestine Large	intestine
5	chr17:17031000-17078800	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr17:17031200-17067800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr17:17032000-17073800	Strong transcription	Fetal Lung	lung
8	chr17:17032200-17073600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr17:17034800-17072800	Strong transcription	Placenta Amnion	Placenta Amnion
10	chr17:17037200-17074200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:17038400-17093800	Strong transcription	Fetal Brain Female	brain
12	chr17:17044200-17083600	Strong transcription	Thymus	Thymus
13	chr17:17045000-17088400	Strong transcription	Brain Germinal Matrix	brain
14	chr17:17045200-17071600	Strong transcription	Primary B cells from cord blood	blood
15	chr17:17045200-17075600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr17:17045200-17093800	Strong transcription	Fetal Stomach	stomach
17	chr17:17045600-17071000	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr17:17045600-17072800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr17:17045800-17065600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr17:17047600-17066200	Weak transcription	K562	blood
21	chr17:17050400-17073800	Strong transcription	Fetal Muscle Leg	muscle
22	chr17:17051000-17093200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr17:17053000-17078000	Strong transcription	Primary B cells from peripheral blood	blood
24	chr17:17053200-17061000	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr17:17053200-17067200	Strong transcription	HepG2	liver
26	chr17:17053200-17072600	Strong transcription	Pancreas	Pancrea
27	chr17:17053200-17074600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr17:17053200-17088200	Strong transcription	Gastric	stomach
29	chr17:17053400-17062800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr17:17054000-17062200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr17:17054200-17061800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr17:17054600-17064000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
33	chr17:17054600-17067000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr17:17054800-17087000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr17:17055200-17065600	Strong transcription	GM12878-XiMat	blood
36	chr17:17055200-17073000	Strong transcription	Placenta	Placenta
37	chr17:17055200-17089400	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr17:17055400-17071400	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr17:17055400-17072400	Strong transcription	Ovary	ovary
40	chr17:17055600-17064000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr17:17055600-17092600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr17:17055800-17061800	Strong transcription	Hela-S3	cervix
43	chr17:17055800-17064200	Genic enhancers	Fetal Thymus	thymus
44	chr17:17055800-17092600	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr17:17056000-17093600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr17:17056200-17061000	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr17:17056200-17066600	Strong transcription	Colon Smooth Muscle	Colon
48	chr17:17056200-17073200	Strong transcription	Brain Anterior Caudate	brain
49	chr17:17056200-17073400	Strong transcription	Brain Hippocampus Middle	brain
50	chr17:17056200-17073400	Strong transcription	Colonic Mucosa	Colon

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