Variant report

Variant	rs2357954
Chromosome Location	chr2:54362437-54362438
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54356754..54359012-chr2:54361196..54364127,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10203576	0.82[ASN][1000 genomes]
rs10207537	0.84[ASN][1000 genomes]
rs1058320	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1075265	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10865277	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10865278	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10865279	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11125520	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11125524	0.91[ASN][1000 genomes]
rs11695734	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11887549	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11888384	0.93[ASN][1000 genomes]
rs11896781	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1215150	0.89[CHB][hapmap]
rs1363062	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1421622	0.83[ASN][1000 genomes]
rs1559037	0.83[EUR][1000 genomes]
rs1727522	0.87[CHB][hapmap]
rs1833497	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1833498	0.88[ASN][1000 genomes]
rs1862121	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1862122	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1877906	0.98[ASN][1000 genomes]
rs2018747	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2042143	0.94[ASN][1000 genomes]
rs2048749	0.95[ASN][1000 genomes]
rs2112124	0.96[ASN][1000 genomes]
rs2287642	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs34769118	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs41385746	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4671178	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4671190	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4671860	0.89[ASN][1000 genomes]
rs4671872	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4671891	0.81[ASN][1000 genomes]
rs56001939	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62137965	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62137973	0.87[EUR][1000 genomes]
rs6545384	0.88[ASN][1000 genomes]
rs6545388	0.94[CHB][hapmap];0.89[ASN][1000 genomes]
rs6741891	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7558126	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7560947	0.89[ASN][1000 genomes]
rs7562055	0.94[ASN][1000 genomes]
rs7566894	0.94[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7569743	0.98[ASN][1000 genomes]
rs7573491	0.93[ASN][1000 genomes]
rs7574477	0.87[CHB][hapmap]
rs7590846	0.84[EUR][1000 genomes]
rs7591194	0.89[ASN][1000 genomes]
rs7600141	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7604357	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7607066	0.94[ASN][1000 genomes]
rs843675	0.81[CHB][hapmap]
rs843677	0.87[CHB][hapmap]
rs888635	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs918357	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs929734	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs959285	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs959286	0.96[CEU][hapmap];0.89[CHB][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9808326	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	esv1851003	chr2:54324701-54372931	Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
10	nsv1007731	chr2:54331179-54452329	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
11	nsv535723	chr2:54331179-54452329	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
12	nsv1006984	chr2:54343466-54384094	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	nsv874148	chr2:54344325-54432222	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
14	nsv1000652	chr2:54345892-54469703	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv1003889	chr2:54347750-54424601	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv582011	chr2:54348704-54384927	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv1011433	chr2:54351145-54424601	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv1012230	chr2:54351988-54422959	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	nsv874149	chr2:54358517-54432222	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2357954	ACYP2	cis	Muscle Skeletal	GTEx

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54343400-54388600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:54348600-54365800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:54348600-54365800	Weak transcription	Left Ventricle	heart
4	chr2:54349200-54366000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr2:54350000-54365800	Weak transcription	Psoas Muscle	Psoas
6	chr2:54350400-54365800	Weak transcription	Primary T cells from cord blood	blood
7	chr2:54350600-54382600	Weak transcription	Aorta	Aorta
8	chr2:54351200-54365800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:54351200-54365800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:54352200-54411400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:54352400-54366000	Weak transcription	HepG2	liver
12	chr2:54355400-54365800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:54359800-54370800	Weak transcription	Small Intestine	intestine
14	chr2:54360200-54367600	Strong transcription	Primary B cells from cord blood	blood
15	chr2:54360600-54382400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr2:54361200-54374200	Weak transcription	HSMMtube	muscle
17	chr2:54361400-54389800	Weak transcription	Lung	lung
18	chr2:54362000-54363600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:54362000-54365800	Weak transcription	Fetal Intestine Small	intestine
20	chr2:54362000-54386800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:54362000-54416400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr2:54362200-54362600	Strong transcription	Liver	Liver
23	chr2:54362200-54391400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:54362200-54411200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr2:54362400-54362600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:54362400-54362800	Enhancers	Brain Angular Gyrus	brain
27	chr2:54362400-54366600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr2:54362400-54379400	Weak transcription	Brain Anterior Caudate	brain
29	chr2:54362400-54379400	Weak transcription	Ovary	ovary
30	chr2:54362400-54382400	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:54362400-54382400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:54362400-54382600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr2:54362400-54386800	Weak transcription	Brain Substantia Nigra	brain

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