Variant report

Variant	rs7215582
Chromosome Location	chr17:46168535-46168536
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46166805..46169680-chr17:46175249..46176872,2	K562	blood:
2	chr17:46168437..46170885-chr17:46173334..46176896,3	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11079811	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11079812	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11868509	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs12449324	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12449529	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12601412	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12602010	1.00[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs12947056	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12948653	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.86[ASN][1000 genomes]
rs12953085	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1316643	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs17619103	0.89[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs2107308	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2525103	0.84[CEU][hapmap]
rs34130316	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34449497	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35371915	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35999311	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62064917	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62064918	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7209484	0.83[ASN][1000 genomes]
rs7224648	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8065464	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8081209	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	esv1804681	chr17:46144628-46168544	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv908576	chr17:46147807-46260366	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7215582	KRT13	cis	parietal	SCAN
rs7215582	ASB16	cis	parietal	SCAN
rs7215582	PNPO	cis	cerebellum	SCAN
rs7215582	PNPO	cis	parietal	SCAN
rs7215582	RPRML	cis	parietal	SCAN
rs7215582	NAGLU	cis	parietal	SCAN

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46144800-46177800	Weak transcription	Right Ventricle	heart
2	chr17:46147800-46177600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr17:46149000-46178000	Weak transcription	Lung	lung
4	chr17:46152400-46177200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr17:46152600-46176800	Weak transcription	K562	blood
6	chr17:46152600-46177000	Weak transcription	HSMMtube	muscle
7	chr17:46153400-46170800	Weak transcription	HSMM	muscle
8	chr17:46153800-46176800	Weak transcription	NHLF	lung
9	chr17:46154200-46176800	Weak transcription	HMEC	breast
10	chr17:46154200-46177600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr17:46154400-46170600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr17:46154400-46170800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr17:46154400-46170800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr17:46154400-46170800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr17:46154400-46171000	Weak transcription	HepG2	liver
16	chr17:46154400-46171200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr17:46154400-46171200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr17:46154400-46171200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr17:46154400-46171200	Weak transcription	Spleen	Spleen
20	chr17:46154400-46173000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr17:46154400-46176800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr17:46154400-46177000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr17:46154400-46177200	Weak transcription	Placenta	Placenta
24	chr17:46154400-46177600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr17:46154400-46177600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr17:46154400-46177600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr17:46154400-46177600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr17:46154400-46177600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr17:46154400-46177600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr17:46154400-46177800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr17:46154600-46169600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr17:46154600-46170800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr17:46154600-46170800	Weak transcription	Fetal Brain Female	brain
34	chr17:46154600-46170800	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr17:46154600-46171000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr17:46154600-46171000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr17:46154600-46171000	Weak transcription	Thymus	Thymus
38	chr17:46154600-46171200	Weak transcription	Fetal Intestine Large	intestine
39	chr17:46154600-46175400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr17:46154600-46176800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr17:46154600-46177000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr17:46154600-46177000	Weak transcription	Osteobl	bone
43	chr17:46154600-46177600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr17:46155200-46169200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr17:46155200-46169800	Weak transcription	Fetal Thymus	thymus
46	chr17:46155200-46171600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr17:46155400-46171200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr17:46157600-46170600	Weak transcription	NHEK	skin
49	chr17:46163400-46175400	Weak transcription	Gastric	stomach
50	chr17:46163400-46175600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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