Variant report

Variant	rs17448230
Chromosome Location	chr1:185827128-185827129
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	chr1:185819007..185822364-chr1:185824027..185827507,3	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10911781	1.00[CHD][hapmap];0.83[GIH][hapmap]
rs1124757	0.89[EUR][1000 genomes]
rs11581777	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11583867	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11807146	1.00[CEU][hapmap];0.85[CHD][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12057982	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12063964	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12078015	0.89[EUR][1000 genomes]
rs12078444	1.00[CHD][hapmap];0.83[GIH][hapmap]
rs12079064	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs12087032	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.94[MEX][hapmap];0.80[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12098116	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1321668	0.81[EUR][1000 genomes]
rs1321669	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs1321670	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs1322359	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];0.94[MEX][hapmap];0.80[TSI][hapmap];0.81[EUR][1000 genomes]
rs1322362	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1322364	0.81[EUR][1000 genomes]
rs13374445	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs13376668	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1407429	0.95[CEU][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1407430	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.94[MEX][hapmap];0.80[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1407431	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.80[TSI][hapmap];0.80[YRI][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16824516	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16824564	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16824576	1.00[CEU][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.98[EUR][1000 genomes]
rs17445778	1.00[CHB][hapmap]
rs17446906	0.95[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17447869	0.95[CEU][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17448202	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17448216	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17461534	0.83[CHD][hapmap]
rs17505819	0.95[CEU][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes]
rs17507044	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17507170	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1951517	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2057381	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2057382	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];0.98[MKK][hapmap];0.80[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2057383	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2057384	0.97[EUR][1000 genomes]
rs2057385	1.00[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2129125	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2170859	0.90[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs2220128	0.95[CEU][hapmap];1.00[CHD][hapmap];0.88[MEX][hapmap];0.81[EUR][1000 genomes]
rs35314812	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35425624	0.82[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.94[MEX][hapmap]
rs41357745	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[TSI][hapmap]
rs41458549	1.00[CHD][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4515745	0.81[EUR][1000 genomes]
rs4593772	0.80[EUR][1000 genomes]
rs4651287	0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap]
rs4651288	0.95[CEU][hapmap];0.97[GIH][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57686227	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61829860	0.89[EUR][1000 genomes]
rs6656530	1.00[CHB][hapmap]
rs6660510	0.95[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6692479	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7414598	0.81[EUR][1000 genomes]
rs7544533	0.95[CEU][hapmap];0.82[MEX][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs900775	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs9628625	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs994970	1.00[CHB][hapmap]

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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17448230	NMNAT2	cis	parietal	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185803200-185850000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:185813400-185839000	Weak transcription	Fetal Lung	lung
3	chr1:185819800-185829600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:185820400-185830200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:185820400-185830200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:185820600-185831000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:185823200-185831600	Weak transcription	NHLF	lung
8	chr1:185823400-185834200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:185823600-185833600	Weak transcription	HMEC	breast
10	chr1:185823800-185829000	Weak transcription	NH-A	brain
11	chr1:185824400-185829000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:185824400-185830200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:185825000-185831000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:185826000-185827400	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr1:185826400-185827400	Enhancers	NHDF-Ad	bronchial
16	chr1:185826400-185828200	Enhancers	NHEK	skin
17	chr1:185826600-185827200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr1:185826600-185828000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:185826600-185828200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:185826600-185829200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:185826800-185829600	Weak transcription	Osteobl	bone
22	chr1:185826800-185831000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr1:185827000-185827800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:185827000-185829600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:185827000-185829800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:185827000-185830000	Weak transcription	A549	lung
27	chr1:185827000-185833000	Weak transcription	Aorta	Aorta

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