Variant report

Variant	rs2143114
Chromosome Location	chr1:174161430-174161431
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:174158960..174161694-chr1:174164662..174167169,2	K562	blood:
2	chr1:174134604..174137057-chr1:174160693..174163339,2	K562	blood:
3	chr1:174161180..174162878-chr1:174165954..174168802,3	K562	blood:
4	chr1:174159869..174162419-chr1:174173364..174176167,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10158115	0.83[EUR][1000 genomes]
rs10158289	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10912734	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10912761	0.83[EUR][1000 genomes]
rs10912773	0.88[CEU][hapmap];0.87[MEX][hapmap]
rs12079062	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs12079063	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12079820	0.88[CEU][hapmap];0.81[GIH][hapmap];0.88[MEX][hapmap]
rs12084119	0.84[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap]
rs12085290	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12087441	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12094341	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12563301	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12691474	0.88[CEU][hapmap]
rs17301013	0.84[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap]
rs2049991	0.88[CEU][hapmap]
rs2049992	0.84[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs2064149	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2294492	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2860847	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2901785	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4442420	0.88[CEU][hapmap];0.81[GIH][hapmap];0.92[MEX][hapmap]
rs4650945	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4650989	0.84[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs4650990	0.84[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs4652169	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs4652234	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4652237	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4652274	0.88[CEU][hapmap];0.81[GIH][hapmap];0.88[MEX][hapmap]
rs4652294	0.95[CHB][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57366619	0.81[EUR][1000 genomes]
rs57919173	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60354115	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6425274	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6656188	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6658543	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6666767	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs6667267	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6670617	0.84[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs6672986	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6681390	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6681618	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6681780	0.84[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs6682607	0.82[ASW][hapmap]
rs6690570	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6695327	0.82[CHD][hapmap]
rs6695636	0.84[EUR][1000 genomes]
rs6696076	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6699146	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs7512930	0.84[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs7523460	0.84[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs7523938	0.82[EUR][1000 genomes]
rs7526024	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7533430	0.95[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7537517	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7552830	0.84[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs7553788	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7555067	0.84[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs972361	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9787001	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872552	chr1:174061844-174469748	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1008314	chr1:174080192-174311023	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv535207	chr1:174080192-174311023	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	esv1799250	chr1:174119038-174484277	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv1800060	chr1:174132703-174501836	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv465672	chr1:174133251-174469905	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv548194	chr1:174133251-174469905	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv470746	chr1:174150850-174469905	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv825442	chr1:174160121-174162508	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2143114	MRPS14	cis	parietal	SCAN
rs2143114	PRDX6	cis	parietal	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174129600-174164800	Weak transcription	Gastric	stomach
2	chr1:174129600-174173200	Weak transcription	Pancreas	Pancrea
3	chr1:174144000-174178200	Weak transcription	Left Ventricle	heart
4	chr1:174154200-174173600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:174159000-174163600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:174159800-174170200	Weak transcription	Fetal Intestine Small	intestine
7	chr1:174160000-174163200	Weak transcription	K562	blood
8	chr1:174160000-174163400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:174160000-174163600	Weak transcription	Dnd41	blood
10	chr1:174160000-174173600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr1:174160200-174161600	Enhancers	NHDF-Ad	bronchial
12	chr1:174160200-174163000	Weak transcription	Placenta	Placenta
13	chr1:174160200-174163200	Weak transcription	Right Atrium	heart
14	chr1:174160200-174163600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr1:174160600-174161600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:174160600-174173800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr1:174160800-174169600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr1:174160800-174169800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:174160800-174186600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:174161000-174161800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:174161000-174162000	Enhancers	Hela-S3	cervix
22	chr1:174161000-174162400	Enhancers	GM12878-XiMat	blood
23	chr1:174161000-174163600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr1:174161000-174166400	Weak transcription	Fetal Heart	heart
25	chr1:174161000-174169000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:174161000-174169400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr1:174161000-174172200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:174161000-174172400	Weak transcription	Fetal Intestine Large	intestine
29	chr1:174161000-174173600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:174161000-174176200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:174161200-174176600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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