Variant report

Variant	rs2877438
Chromosome Location	chr1:180624835-180624836
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180613241..180615930-chr1:180622558..180625291,2	K562	blood:
2	chr1:180616735..180618817-chr1:180623698..180626085,2	MCF-7	breast:
3	chr1:180554937..180556534-chr1:180622491..180625409,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10494532	0.84[ASW][hapmap];0.96[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.88[TSI][hapmap];0.82[YRI][hapmap]
rs10737351	0.96[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap]
rs10798788	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs10914057	0.88[AMR][1000 genomes]
rs10914074	0.84[ASW][hapmap];0.96[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.90[TSI][hapmap];0.94[YRI][hapmap];0.81[ASN][1000 genomes]
rs10914076	0.92[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.81[ASN][1000 genomes]
rs10914077	0.88[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs10914080	0.84[ASW][hapmap];0.96[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.88[TSI][hapmap];0.82[YRI][hapmap]
rs10914083	0.92[CHB][hapmap];0.80[JPT][hapmap]
rs10914084	0.90[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap]
rs10914095	0.96[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap]
rs10914107	0.92[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap]
rs10914111	0.96[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.82[YRI][hapmap]
rs10914112	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs11585146	0.96[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.82[YRI][hapmap]
rs11585424	0.81[ASN][1000 genomes]
rs12064913	0.88[CEU][hapmap];0.84[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.87[JPT][hapmap];0.85[TSI][hapmap]
rs12120511	0.96[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];0.82[YRI][hapmap]
rs12121436	0.82[ASW][hapmap];0.92[CEU][hapmap];0.92[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.88[TSI][hapmap]
rs12142163	0.96[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap]
rs12143915	0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap]
rs12725006	1.00[ASW][hapmap];0.96[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.88[TSI][hapmap];0.82[YRI][hapmap]
rs12734308	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1533422	0.96[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap]
rs1554183	0.96[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap]
rs1554185	0.96[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap]
rs17373584	1.00[ASW][hapmap];0.96[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.86[TSI][hapmap];0.82[YRI][hapmap]
rs1980157	0.92[CEU][hapmap];0.84[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap]
rs2271669	0.92[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs2944261	0.92[CHB][hapmap]
rs3002118	0.92[CHB][hapmap];0.86[JPT][hapmap]
rs3002119	0.92[CHB][hapmap];0.87[JPT][hapmap]
rs3761904	0.84[ASW][hapmap];0.96[CEU][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.88[TSI][hapmap];0.82[YRI][hapmap]
rs3789373	0.92[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs3842895	0.84[CHB][hapmap]
rs3845407	0.81[ASN][1000 genomes]
rs3856059	0.96[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap]
rs3903979	0.81[ASN][1000 genomes]
rs4652523	0.82[AMR][1000 genomes]
rs4652525	0.92[CHB][hapmap];0.86[JPT][hapmap]
rs4652526	0.96[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.82[YRI][hapmap];0.80[ASN][1000 genomes]
rs4652527	0.92[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap]
rs4652528	0.90[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap]
rs4652529	0.92[CHB][hapmap];0.80[JPT][hapmap]
rs61809343	0.81[ASN][1000 genomes]
rs6425655	0.96[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap]
rs6661325	0.81[MEX][hapmap]
rs6661417	0.92[CEU][hapmap];0.84[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap]
rs6676219	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.90[TSI][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6677506	0.96[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap]
rs6677570	0.81[ASN][1000 genomes]
rs6677681	0.92[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs6688486	0.81[ASN][1000 genomes]
rs6703189	0.96[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap]
rs7349119	0.92[CHB][hapmap];0.80[JPT][hapmap]
rs7536258	0.92[CHB][hapmap];0.91[CHD][hapmap];0.93[JPT][hapmap]
rs7544774	0.96[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap]
rs7546227	0.92[CHB][hapmap];0.84[JPT][hapmap]
rs7546516	0.92[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.94[YRI][hapmap]
rs7548261	0.96[CEU][hapmap];0.92[CHB][hapmap]
rs7548671	0.88[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap]
rs7555356	0.96[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap]
rs7556592	0.92[CHB][hapmap];0.80[JPT][hapmap]
rs9919167	0.92[CHB][hapmap];0.91[CHD][hapmap];0.93[JPT][hapmap];0.81[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	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv3343230	chr1:180624779-180626827	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2877438	ACBD6	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180602000-180645200	Weak transcription	Gastric	stomach
2	chr1:180603600-180626400	Weak transcription	Fetal Lung	lung
3	chr1:180605600-180625800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:180605800-180625000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr1:180609800-180625800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:180612800-180626400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:180613200-180632600	Weak transcription	Aorta	Aorta
8	chr1:180613400-180626400	Weak transcription	Adipose Nuclei	Adipose
9	chr1:180613400-180626600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:180616400-180627200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:180616600-180626000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:180619600-180632600	Weak transcription	Pancreas	Pancrea
13	chr1:180619600-180634600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:180622400-180626400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:180624600-180625000	Weak transcription	Brain Anterior Caudate	brain

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