Variant report

Variant	rs11807146
Chromosome Location	chr1:185831593-185831594
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185831415..185833805-chr1:185840842..185844622,3	K562	blood:
2	chr1:185827279..185829973-chr1:185830358..185832032,2	MCF-7	breast:

Extended variants
information (count: 100 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10047250	1.00[JPT][hapmap]
rs10465500	1.00[JPT][hapmap]
rs10489714	1.00[JPT][hapmap]
rs10489715	1.00[JPT][hapmap]
rs10489716	1.00[JPT][hapmap]
rs10489717	1.00[JPT][hapmap]
rs10911781	0.94[ASW][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10911785	1.00[JPT][hapmap]
rs10911789	1.00[JPT][hapmap]
rs1124757	0.82[EUR][1000 genomes]
rs11581777	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11583867	0.95[CEU][hapmap];0.81[GIH][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes]
rs11800990	1.00[JPT][hapmap]
rs12057982	0.84[EUR][1000 genomes]
rs12063964	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12078444	0.94[ASW][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12079064	0.95[CEU][hapmap]
rs12083564	0.83[EUR][1000 genomes]
rs12085167	0.83[EUR][1000 genomes]
rs12087032	0.95[CEU][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12239929	1.00[JPT][hapmap]
rs1321669	0.95[CEU][hapmap]
rs1321670	0.91[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1321671	1.00[JPT][hapmap]
rs1322359	0.95[CEU][hapmap];0.85[CHD][hapmap];0.86[GIH][hapmap];0.94[TSI][hapmap];0.88[EUR][1000 genomes]
rs1322362	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs1322364	0.88[EUR][1000 genomes]
rs13374445	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13376668	0.95[EUR][1000 genomes]
rs1407426	1.00[JPT][hapmap];0.82[YRI][hapmap]
rs1407428	1.00[JPT][hapmap]
rs1407429	0.95[CEU][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1407430	0.95[CEU][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];0.94[TSI][hapmap];0.94[EUR][1000 genomes]
rs1407431	1.00[CEU][hapmap];0.86[GIH][hapmap];0.94[TSI][hapmap];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1555494	1.00[JPT][hapmap]
rs16824465	1.00[JPT][hapmap]
rs16824488	1.00[JPT][hapmap]
rs16824516	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16824564	1.00[CEU][hapmap];0.85[CHD][hapmap];0.89[EUR][1000 genomes]
rs16824576	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.83[MEX][hapmap];0.91[MKK][hapmap];0.81[TSI][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17446906	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs17447869	0.95[CEU][hapmap];0.85[CHD][hapmap];0.85[EUR][1000 genomes]
rs17448202	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17448216	1.00[CEU][hapmap];0.85[CHD][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17448230	1.00[CEU][hapmap];0.85[CHD][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17505819	0.95[CEU][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17507044	0.95[EUR][1000 genomes]
rs17507170	0.86[EUR][1000 genomes]
rs1830622	1.00[JPT][hapmap]
rs1951517	0.95[CEU][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2057381	0.87[EUR][1000 genomes]
rs2057382	1.00[CEU][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes]
rs2057383	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2057384	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2057385	1.00[CEU][hapmap];0.85[CHD][hapmap];0.87[EUR][1000 genomes]
rs2129125	0.95[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2170859	0.90[CEU][hapmap]
rs2220128	0.95[CEU][hapmap];0.85[CHD][hapmap];0.86[GIH][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35314812	0.92[EUR][1000 genomes]
rs35425624	0.82[CEU][hapmap];0.92[TSI][hapmap]
rs41357745	0.82[CEU][hapmap];0.85[CHD][hapmap]
rs41458549	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4515745	0.88[EUR][1000 genomes]
rs4593772	0.87[EUR][1000 genomes]
rs4651287	0.95[CEU][hapmap];0.85[CHD][hapmap];0.86[GIH][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs4651288	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs57398679	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57686227	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61829884	0.86[EUR][1000 genomes]
rs61831528	0.83[EUR][1000 genomes]
rs61831532	0.82[EUR][1000 genomes]
rs6425004	1.00[JPT][hapmap]
rs6425005	1.00[JPT][hapmap]
rs6657554	1.00[JPT][hapmap]
rs6657683	1.00[JPT][hapmap]
rs6660510	0.95[CEU][hapmap];0.85[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6662653	1.00[JPT][hapmap]
rs6667316	1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6675465	1.00[JPT][hapmap]
rs6676522	1.00[JPT][hapmap]
rs6676629	1.00[JPT][hapmap]
rs6683809	1.00[JPT][hapmap]
rs6688298	1.00[JPT][hapmap]
rs6690475	1.00[JPT][hapmap]
rs6690559	1.00[JPT][hapmap]
rs6690714	1.00[JPT][hapmap]
rs6692479	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6696804	1.00[JPT][hapmap]
rs6698721	1.00[JPT][hapmap]
rs726777	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7414598	0.88[EUR][1000 genomes]
rs7521401	1.00[JPT][hapmap]
rs7540773	1.00[JPT][hapmap]
rs7541361	1.00[JPT][hapmap]
rs7544533	0.95[CEU][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7546152	1.00[JPT][hapmap]
rs900775	0.84[TSI][hapmap]
rs9628625	0.95[CEU][hapmap];0.93[EUR][1000 genomes]

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
rs11807146	NMNAT2	cis	parietal	SCAN

Chromatin state (count:30 , 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	chr1:185823200-185831600	Weak transcription	NHLF	lung
4	chr1:185823400-185834200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:185823600-185833600	Weak transcription	HMEC	breast
6	chr1:185827000-185833000	Weak transcription	Aorta	Aorta
7	chr1:185827200-185841200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:185828200-185833600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:185828200-185833600	Weak transcription	NHEK	skin
10	chr1:185829000-185834800	Enhancers	NH-A	brain
11	chr1:185829200-185832000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:185829400-185832400	Enhancers	HUVEC	blood vessel
13	chr1:185829600-185833000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:185829600-185835000	Enhancers	Osteobl	bone
15	chr1:185829800-185832200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:185829800-185832400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr1:185829800-185834200	Weak transcription	Left Ventricle	heart
18	chr1:185830000-185832200	Enhancers	A549	lung
19	chr1:185830200-185832000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr1:185830200-185834000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:185830400-185831800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr1:185830400-185836400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:185830800-185831800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr1:185830800-185832600	Enhancers	Hela-S3	cervix
25	chr1:185831000-185831800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr1:185831000-185832200	Enhancers	K562	blood
27	chr1:185831000-185832800	Weak transcription	NHDF-Ad	bronchial
28	chr1:185831200-185831800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:185831200-185833000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:185831400-185832600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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