Variant report

Variant	rs6545384
Chromosome Location	chr2:54301064-54301065
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54299748..54301680-chr2:54304103..54306352,2	K562	blood:
2	chr2:54292163..54295767-chr2:54296379..54301634,7	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10084355	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10201364	0.81[AMR][1000 genomes]
rs10203576	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10207537	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10208233	0.89[EUR][1000 genomes]
rs1058320	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1075265	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10865277	0.81[ASN][1000 genomes]
rs10865278	0.80[ASN][1000 genomes]
rs10865279	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs11125520	0.81[ASN][1000 genomes]
rs11125524	0.83[ASN][1000 genomes]
rs1118618	0.90[EUR][1000 genomes]
rs11687324	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11695734	0.99[ASN][1000 genomes]
rs11887549	0.82[ASN][1000 genomes]
rs11888384	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11896781	0.87[ASN][1000 genomes]
rs1215150	0.89[CHB][hapmap]
rs12616638	0.86[ASN][1000 genomes]
rs12713253	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1363062	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1363063	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1421617	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1421622	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17268179	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1727522	0.87[CHB][hapmap]
rs1833497	0.92[ASN][1000 genomes]
rs1833498	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1862121	0.94[ASN][1000 genomes]
rs1862122	0.92[ASN][1000 genomes]
rs1877906	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2018747	0.98[ASN][1000 genomes]
rs2042143	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2048749	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2111868	0.88[CEU][hapmap]
rs2112124	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2287642	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2357954	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2884254	0.80[AMR][1000 genomes]
rs34769118	0.84[ASN][1000 genomes]
rs41385746	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs4671178	0.94[ASN][1000 genomes]
rs4671190	0.98[ASN][1000 genomes]
rs4671860	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4671872	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56001939	0.81[ASN][1000 genomes]
rs62137965	0.88[ASN][1000 genomes]
rs6545376	0.80[AMR][1000 genomes]
rs6545378	0.80[AMR][1000 genomes]
rs6545388	0.89[CEU][hapmap];0.94[CHB][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6545389	0.81[CEU][hapmap]
rs6724389	0.89[CEU][hapmap]
rs6741891	0.98[ASN][1000 genomes]
rs6749817	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs718872	0.89[CEU][hapmap]
rs7558126	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7560947	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7562055	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7566894	0.89[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7569214	0.96[CEU][hapmap];0.80[AMR][1000 genomes]
rs7569370	0.96[CEU][hapmap];0.83[AMR][1000 genomes]
rs7569743	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7573491	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7574477	0.87[CHB][hapmap];0.84[YRI][hapmap]
rs7591194	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7604357	0.99[ASN][1000 genomes]
rs7607066	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs805308	0.93[CEU][hapmap]
rs805309	0.96[CEU][hapmap]
rs805322	0.85[CEU][hapmap]
rs805341	0.92[CEU][hapmap]
rs805367	0.86[CEU][hapmap]
rs805423	0.82[CEU][hapmap]
rs805450	0.89[CEU][hapmap]
rs843675	0.81[CHB][hapmap]
rs843677	0.87[CHB][hapmap]
rs888635	0.97[ASN][1000 genomes]
rs918357	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs929734	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs959286	0.89[CHB][hapmap]
rs9808326	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[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	nsv1001246	chr2:54195654-54434832	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv431069	chr2:54260132-54434049	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS 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	19 gene(s)	inside rSNPs	diseases
9	nsv1010175	chr2:54292951-54343466	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6545384	ACYP2	cis	Muscle Skeletal	GTEx

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54278800-54302400	Weak transcription	Left Ventricle	heart
2	chr2:54280800-54310000	Weak transcription	Ovary	ovary
3	chr2:54280800-54315000	Weak transcription	Adipose Nuclei	Adipose
4	chr2:54280800-54315200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:54280800-54331000	Weak transcription	Aorta	Aorta
6	chr2:54281600-54308800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:54287000-54310000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr2:54287200-54307000	Weak transcription	Primary T cells from cord blood	blood
9	chr2:54289800-54317600	Weak transcription	Primary B cells from cord blood	blood
10	chr2:54291200-54342000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:54291800-54304800	Weak transcription	Fetal Kidney	kidney
12	chr2:54292000-54308400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:54293000-54306000	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:54293200-54306200	Weak transcription	Brain Anterior Caudate	brain
15	chr2:54293200-54306200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:54293400-54308400	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:54293600-54310600	Weak transcription	HSMM	muscle
18	chr2:54294800-54315000	Weak transcription	Fetal Intestine Small	intestine
19	chr2:54295200-54312200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:54295400-54309800	Weak transcription	Fetal Brain Male	brain
21	chr2:54295800-54301400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:54300400-54301400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:54300400-54302200	Enhancers	Hela-S3	cervix
24	chr2:54300600-54302200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:54300600-54302200	Enhancers	NHEK	skin
26	chr2:54300800-54302200	Enhancers	HUVEC	blood vessel
27	chr2:54301000-54301400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:54301000-54301400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr2:54301000-54301400	Enhancers	GM12878-XiMat	blood
30	chr2:54301000-54301600	Enhancers	A549	lung
31	chr2:54301000-54302200	Enhancers	HMEC	breast
32	chr2:54301000-54303400	Enhancers	K562	blood

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