Variant report

Variant	rs3118980
Chromosome Location	chr1:174762839-174762840
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	chr1:174756924..174758922-chr1:174761115..174763759,2	K562	blood:
2	chr1:174761076..174764017-chr1:174764212..174765845,2	MCF-7	breast:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1016466	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10753086	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10912813	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10912824	0.88[CEU][hapmap];0.85[GIH][hapmap]
rs11804941	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12060177	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12074753	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1653626	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1653627	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1653632	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.89[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs170768	0.88[CEU][hapmap];0.85[GIH][hapmap]
rs1754349	0.86[EUR][1000 genomes]
rs1754351	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1754355	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.97[MKK][hapmap];0.91[TSI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1793297	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1793300	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1793308	0.89[ASN][1000 genomes]
rs1793309	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1793319	0.88[CEU][hapmap];0.85[GIH][hapmap]
rs1801791	0.86[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap]
rs2187562	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.93[MKK][hapmap];0.87[TSI][hapmap];0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2285210	0.91[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap]
rs2981894	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2987869	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2987874	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3018410	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3133270	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs332765	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs332770	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs332771	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs332773	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs332783	0.87[CEU][hapmap]
rs332789	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs332791	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs332795	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs332796	0.88[CEU][hapmap];0.85[GIH][hapmap]
rs332805	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs333418	0.88[CEU][hapmap];0.85[GIH][hapmap]
rs34819375	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3753563	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs4233195	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs444678	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs461910	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4650666	0.84[CEU][hapmap]
rs4651238	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.86[TSI][hapmap]
rs55741955	0.81[EUR][1000 genomes]
rs56347239	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61828140	0.81[EUR][1000 genomes]
rs61828142	0.80[EUR][1000 genomes]
rs6425287	0.84[ASN][1000 genomes]
rs6425305	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.86[TSI][hapmap]
rs6658861	0.88[CEU][hapmap];0.85[GIH][hapmap]
rs6664864	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6665216	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.86[TSI][hapmap]
rs6671824	0.86[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6672148	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6683602	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6688577	0.84[CEU][hapmap];0.85[GIH][hapmap]
rs6689170	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6696197	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67967476	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7538588	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs7542389	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7545910	0.84[EUR][1000 genomes]
rs7555533	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9425784	0.82[ASN][1000 genomes]
rs9628627	0.83[ASN][1000 genomes]
rs9700904	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9804056	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.86[TSI][hapmap]
rs989423	1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.92[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	nsv1014637	chr1:174265631-174826765	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv535208	chr1:174265631-174826765	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv548198	chr1:174731596-174800872	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174747000-174768400	Weak transcription	Primary B cells from cord blood	blood
2	chr1:174752400-174764000	Weak transcription	Fetal Intestine Small	intestine
3	chr1:174752400-174764200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:174758200-174768400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:174758800-174768000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:174758800-174768200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr1:174759200-174764200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:174759200-174764200	Weak transcription	HMEC	breast
9	chr1:174759200-174764600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:174759400-174764000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:174759400-174764000	Weak transcription	NHEK	skin
12	chr1:174759400-174768000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:174759400-174768400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:174759400-174768400	Weak transcription	Osteobl	bone
15	chr1:174760000-174764600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:174760000-174768400	Weak transcription	HSMMtube	muscle
17	chr1:174761000-174768200	Weak transcription	GM12878-XiMat	blood
18	chr1:174761200-174764400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr1:174761200-174768000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr1:174761400-174764400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:174761400-174766600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:174761400-174768200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:174761400-174768200	Weak transcription	HSMM	muscle
24	chr1:174761400-174768400	Weak transcription	Right Atrium	heart
25	chr1:174761800-174768200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:174762000-174766400	Weak transcription	K562	blood
27	chr1:174762000-174768400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:174762800-174768400	Weak transcription	Right Ventricle	heart

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