Variant report

Variant	rs7546152
Chromosome Location	chr1:185930774-185930775
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:185930758-185930800	HepG2	liver:	n/a	chr1:185930764-185930775 chr1:185930766-185930775 chr1:185930765-185930776

Variant related genes	Relation type
HMCN1	TF binding region

Extended variants
information (count: 167 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:165)

rs_ID	r²[population]
rs10047250	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10157843	1.00[CEU][hapmap]
rs10449224	1.00[ASN][1000 genomes]
rs10465497	1.00[ASN][1000 genomes]
rs10465500	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10489714	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10489715	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10489716	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10489717	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10489718	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10911781	1.00[JPT][hapmap]
rs10911783	1.00[EUR][1000 genomes]
rs10911784	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs10911785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911787	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10911788	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10911789	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911790	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1124756	1.00[CHB][hapmap]
rs11586768	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs11587002	1.00[EUR][1000 genomes]
rs11589455	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs11800990	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11804668	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11807146	1.00[JPT][hapmap]
rs12057384	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12062879	1.00[CEU][hapmap]
rs12067376	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs12068599	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12068829	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs12078444	1.00[JPT][hapmap]
rs12088571	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12095309	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12239929	1.00[JPT][hapmap]
rs1321670	1.00[JPT][hapmap]
rs1321671	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1321672	1.00[CHB][hapmap]
rs1321673	1.00[CHB][hapmap]
rs1322361	1.00[CEU][hapmap]
rs13374445	1.00[JPT][hapmap]
rs1407426	1.00[JPT][hapmap]
rs1407427	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs1407428	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1407429	1.00[JPT][hapmap]
rs1555494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16824428	1.00[CHB][hapmap]
rs16824451	1.00[CHB][hapmap]
rs16824455	1.00[CHB][hapmap]
rs16824458	1.00[CHB][hapmap]
rs16824465	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16824488	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16824497	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16824524	1.00[CHB][hapmap]
rs16824576	1.00[JPT][hapmap]
rs16824945	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17505819	1.00[JPT][hapmap]
rs1830622	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1830623	1.00[ASN][1000 genomes]
rs1853247	1.00[ASN][1000 genomes]
rs2129125	1.00[JPT][hapmap]
rs2170858	1.00[ASN][1000 genomes]
rs28696376	1.00[EUR][1000 genomes]
rs41397650	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs4288554	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs55887884	1.00[ASN][1000 genomes]
rs56331179	1.00[ASN][1000 genomes]
rs57107751	1.00[ASN][1000 genomes]
rs57162167	1.00[ASN][1000 genomes]
rs57215320	1.00[ASN][1000 genomes]
rs57246058	1.00[ASN][1000 genomes]
rs57257586	1.00[ASN][1000 genomes]
rs57646829	1.00[ASN][1000 genomes]
rs57782754	1.00[ASN][1000 genomes]
rs58131117	1.00[ASN][1000 genomes]
rs58159343	1.00[ASN][1000 genomes]
rs58291464	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58433773	1.00[ASN][1000 genomes]
rs58437418	1.00[ASN][1000 genomes]
rs58610258	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59175860	1.00[ASN][1000 genomes]
rs59312002	1.00[ASN][1000 genomes]
rs59967839	1.00[ASN][1000 genomes]
rs60308365	1.00[ASN][1000 genomes]
rs60458315	1.00[ASN][1000 genomes]
rs60735946	1.00[ASN][1000 genomes]
rs61261990	1.00[ASN][1000 genomes]
rs61679640	1.00[ASN][1000 genomes]
rs61689983	1.00[ASN][1000 genomes]
rs6425001	1.00[ASN][1000 genomes]
rs6425004	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6425005	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6425011	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs6657554	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6657683	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6660510	1.00[JPT][hapmap]
rs6662653	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs6667316	1.00[JPT][hapmap]
rs6671094	1.00[ASN][1000 genomes]
rs6675465	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6675691	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6676522	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6676629	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6676765	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6677183	1.00[ASN][1000 genomes]
rs6679816	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6683809	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6686816	1.00[ASN][1000 genomes]
rs6688298	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6688369	1.00[ASN][1000 genomes]
rs6689359	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6690475	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6690559	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6690714	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6695626	1.00[CEU][hapmap]
rs6696804	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6698721	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6700856	1.00[ASN][1000 genomes]
rs726777	1.00[JPT][hapmap]
rs72703022	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72703023	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72718866	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718868	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72718870	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73054403	1.00[ASN][1000 genomes]
rs73054407	1.00[ASN][1000 genomes]
rs73058401	1.00[ASN][1000 genomes]
rs73060467	1.00[ASN][1000 genomes]
rs73060474	1.00[ASN][1000 genomes]
rs73062155	1.00[ASN][1000 genomes]
rs73062157	1.00[ASN][1000 genomes]
rs73062161	1.00[ASN][1000 genomes]
rs73062164	1.00[ASN][1000 genomes]
rs73062166	1.00[ASN][1000 genomes]
rs73062512	1.00[ASN][1000 genomes]
rs73062516	1.00[ASN][1000 genomes]
rs73070519	1.00[ASN][1000 genomes]
rs73070522	1.00[ASN][1000 genomes]
rs73070547	1.00[ASN][1000 genomes]
rs73070548	1.00[ASN][1000 genomes]
rs73070567	1.00[ASN][1000 genomes]
rs73070598	1.00[ASN][1000 genomes]
rs73072056	1.00[ASN][1000 genomes]
rs73072077	1.00[ASN][1000 genomes]
rs74135350	1.00[ASN][1000 genomes]
rs74135351	1.00[ASN][1000 genomes]
rs7517811	1.00[ASN][1000 genomes]
rs7519398	1.00[ASN][1000 genomes]
rs7521401	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7527214	1.00[CEU][hapmap]
rs7532062	1.00[ASN][1000 genomes]
rs7532431	1.00[ASN][1000 genomes]
rs7539719	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs7540698	1.00[CHB][hapmap]
rs7540727	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7540773	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7541361	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7544162	1.00[ASN][1000 genomes]
rs7544533	1.00[JPT][hapmap]
rs7544808	1.00[ASN][1000 genomes]
rs7547368	1.00[ASN][1000 genomes]
rs7547380	1.00[CHB][hapmap]
rs7552194	1.00[CEU][hapmap]
rs7555536	1.00[ASN][1000 genomes]
rs9628626	1.00[ASN][1000 genomes]
rs9628634	1.00[ASN][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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185895200-185932200	Weak transcription	Aorta	Aorta
2	chr1:185922800-185931200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:185924200-185940800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:185925200-185931800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:185925800-185931800	Enhancers	NHDF-Ad	bronchial
6	chr1:185926800-185933600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:185926800-185939000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:185927600-185938400	Weak transcription	Adipose Nuclei	Adipose
9	chr1:185928000-185933600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:185928000-185933600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:185929400-185931200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:185929400-185933600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:185929600-185930800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:185929600-185931400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:185929600-185931400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:185929600-185931400	Enhancers	Fetal Kidney	kidney
17	chr1:185929600-185931400	Enhancers	Fetal Muscle Leg	muscle
18	chr1:185929600-185931600	Enhancers	NHLF	lung
19	chr1:185929600-185931800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr1:185929600-185931800	Enhancers	Fetal Lung	lung
21	chr1:185929800-185931200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:185930000-185931400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:185930000-185935000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:185930200-185931200	Enhancers	Fetal Brain Female	brain
25	chr1:185930200-185931200	Weak transcription	Fetal Stomach	stomach
26	chr1:185930200-185931200	Enhancers	NHEK	skin
27	chr1:185930200-185931200	Enhancers	Osteobl	bone
28	chr1:185930200-185931600	Enhancers	HMEC	breast
29	chr1:185930400-185933600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:185930600-185938400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:185930600-185938400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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