Variant report

Variant	rs6708095
Chromosome Location	chr2:53937502-53937503
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	chr2:53931144..53933214-chr2:53937294..53940246,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10171954	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10178643	0.85[ASN][1000 genomes]
rs10188142	0.91[CHB][hapmap];0.85[JPT][hapmap];0.82[YRI][hapmap];0.87[ASN][1000 genomes]
rs10192626	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10201938	0.86[ASN][1000 genomes]
rs10203095	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10490471	0.95[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs11684084	0.85[CHB][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12621225	0.95[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13414216	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13432632	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2111622	0.91[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs2111623	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2160929	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs2160931	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2193682	0.86[CHB][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2193683	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2357693	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2542574	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2542576	0.86[EUR][1000 genomes]
rs2542579	0.82[EUR][1000 genomes]
rs2542584	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2542585	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2542588	0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs2542593	0.84[ASN][1000 genomes]
rs2692515	0.82[ASN][1000 genomes]
rs2692518	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2692531	0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs2692532	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2692536	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2909263	0.84[ASN][1000 genomes]
rs2949811	0.84[ASN][1000 genomes]
rs2949812	0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs3770403	0.86[EUR][1000 genomes]
rs3770405	0.86[EUR][1000 genomes]
rs3821081	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4413193	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4671529	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4671583	0.91[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs56173218	0.81[ASN][1000 genomes]
rs62139835	0.82[EUR][1000 genomes]
rs6705712	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs6738369	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6743627	0.81[CEU][hapmap];0.80[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs698854	0.81[EUR][1000 genomes]
rs7557799	0.81[CEU][hapmap];0.80[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs7557898	0.81[CEU][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs7572776	0.87[ASN][1000 genomes]
rs7573991	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7584474	0.81[EUR][1000 genomes]
rs7596349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7601692	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs805374	0.92[CEU][hapmap]
rs805375	0.92[CEU][hapmap]
rs805410	0.92[CEU][hapmap]
rs805423	0.96[CEU][hapmap]
rs805433	0.83[EUR][1000 genomes]
rs805436	0.82[EUR][1000 genomes]
rs805438	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes]
rs805439	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes]
rs918207	0.90[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916267	chr2:53747525-53955999	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv984439	chr2:53861720-53955437	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1003263	chr2:53863287-54055359	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv535720	chr2:53863287-54055359	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1011449	chr2:53894529-53947781	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1009107	chr2:53896767-53946913	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1014949	chr2:53896767-53947781	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1011400	chr2:53899956-53947781	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv834058	chr2:53900674-54072011	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	esv1844655	chr2:53929855-53972693	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6708095	ACYP2	cis	Esophagus Muscularis	GTEx
rs6708095	ACYP2	cis	Muscle Skeletal	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53898000-53957400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:53908600-53982200	Weak transcription	Small Intestine	intestine
3	chr2:53910000-53941600	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:53910000-53994000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:53910200-53990600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:53918400-53994000	Weak transcription	Fetal Heart	heart
7	chr2:53925400-53979400	Weak transcription	Psoas Muscle	Psoas
8	chr2:53927600-53960200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:53933800-53938000	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:53933800-53944000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:53934000-53937800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:53934200-53938200	Strong transcription	Adipose Nuclei	Adipose
13	chr2:53934200-53938400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
14	chr2:53934200-53942200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:53934800-53938200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:53934800-53939200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:53935200-53937600	ZNF genes & repeats	Fetal Brain Male	brain
18	chr2:53935200-53937800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:53935200-53938000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
20	chr2:53935200-53938000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:53935200-53938000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr2:53935200-53938200	ZNF genes & repeats	Fetal Intestine Small	intestine
23	chr2:53935200-53938400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:53935200-53938600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
25	chr2:53935200-53938600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
26	chr2:53935200-53939000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr2:53935400-53937600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
28	chr2:53935400-53937800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
29	chr2:53935400-53938200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
30	chr2:53935400-53938200	ZNF genes & repeats	Primary B cells from cord blood	blood
31	chr2:53935400-53938400	Strong transcription	Rectal Smooth Muscle	rectum
32	chr2:53935400-53938400	ZNF genes & repeats	Dnd41	blood
33	chr2:53935400-53938800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:53935400-53939200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:53935600-53938000	ZNF genes & repeats	GM12878-XiMat	blood
36	chr2:53935600-53938000	ZNF genes & repeats	NHEK	skin
37	chr2:53935600-53938400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
38	chr2:53935800-53937600	ZNF genes & repeats	A549	lung
39	chr2:53935800-53938200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
40	chr2:53936000-53937600	Strong transcription	Stomach Mucosa	stomach
41	chr2:53936200-53938000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
42	chr2:53936600-53937600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:53936600-53938000	Strong transcription	Placenta	Placenta
44	chr2:53936600-53938200	Strong transcription	Left Ventricle	heart
45	chr2:53936600-53938400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:53936600-53938400	Strong transcription	K562	blood
47	chr2:53936600-53938600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:53936600-53938600	Strong transcription	Liver	Liver
49	chr2:53936600-53938600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:53936600-53938600	Strong transcription	Rectal Mucosa Donor 29	rectum

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