Variant report

Variant	rs1363062
Chromosome Location	chr2:54281762-54281763
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54196632..54198799-chr2:54280134..54282598,3	MCF-7	breast:
2	chr2:54196526..54198487-chr2:54280269..54283258,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170634	Chromatin interaction
ENSG00000068878	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10084355	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10201364	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10203576	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10207537	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10208233	0.87[EUR][1000 genomes]
rs1058320	0.92[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1075265	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10865279	0.94[CHB][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs11125519	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11687324	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11695734	0.94[ASN][1000 genomes]
rs11888384	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11896781	0.81[ASN][1000 genomes]
rs1215150	0.81[CHB][hapmap]
rs12616212	0.91[EUR][1000 genomes]
rs12616638	0.88[ASN][1000 genomes]
rs12713253	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13414393	0.93[GIH][hapmap];0.88[MEX][hapmap]
rs1363063	0.92[CEU][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1421617	1.00[CEU][hapmap];0.95[GIH][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1421622	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17268179	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1727522	0.82[ASW][hapmap];0.81[CHB][hapmap]
rs1833497	0.98[ASN][1000 genomes]
rs1833498	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1862121	0.99[ASN][1000 genomes]
rs1862122	0.98[ASN][1000 genomes]
rs1877906	0.83[ASN][1000 genomes]
rs2018747	0.92[ASN][1000 genomes]
rs2042143	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2048749	0.86[ASN][1000 genomes]
rs2111868	0.91[CEU][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2112124	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2287642	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2357954	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2884254	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2909460	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs41385746	0.88[CHB][hapmap];0.92[CHD][hapmap]
rs4671178	0.99[ASN][1000 genomes]
rs4671190	0.93[ASN][1000 genomes]
rs4671872	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs62137965	0.83[ASN][1000 genomes]
rs6545376	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6545378	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6545384	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6545388	0.88[ASW][hapmap];0.85[CEU][hapmap];0.87[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap]
rs6724389	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs6741891	0.93[ASN][1000 genomes]
rs6749817	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs698858	0.84[AMR][1000 genomes]
rs718872	0.92[CEU][hapmap];0.80[CHB][hapmap];0.82[AMR][1000 genomes]
rs7558126	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7560947	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7562055	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7566894	0.85[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap]
rs7569214	1.00[CEU][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7569370	1.00[CEU][hapmap];0.93[GIH][hapmap];0.83[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7569743	0.83[ASN][1000 genomes]
rs7571086	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7573491	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7574477	0.82[ASW][hapmap];0.80[CHB][hapmap]
rs7591194	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7604357	0.94[ASN][1000 genomes]
rs7607066	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7609017	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs805308	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs805309	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs805322	0.89[CEU][hapmap];0.80[CHB][hapmap];0.90[GIH][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes]
rs805341	0.96[CEU][hapmap];0.81[GIH][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap]
rs805345	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs805359	0.82[AMR][1000 genomes]
rs805360	0.86[GIH][hapmap]
rs805366	0.81[AMR][1000 genomes]
rs805367	0.89[CEU][hapmap];0.80[CHB][hapmap];0.82[AMR][1000 genomes]
rs805373	0.81[CHB][hapmap];0.82[GIH][hapmap];0.87[MEX][hapmap]
rs805374	0.81[CEU][hapmap];0.80[CHB][hapmap];0.85[GIH][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap]
rs805375	0.81[CEU][hapmap];0.87[CHB][hapmap];0.88[GIH][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap]
rs805410	0.82[CEU][hapmap];0.80[CHB][hapmap];0.81[GIH][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap]
rs805412	0.80[CHB][hapmap]
rs805423	0.85[CEU][hapmap];0.80[CHB][hapmap];0.83[GIH][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap]
rs805424	0.81[AMR][1000 genomes]
rs805450	0.92[CEU][hapmap];0.95[GIH][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes]
rs805453	0.86[AMR][1000 genomes]
rs843675	0.87[CHB][hapmap]
rs843677	0.82[ASW][hapmap];0.81[CHB][hapmap]
rs888635	0.91[ASN][1000 genomes]
rs918357	0.88[ASW][hapmap];0.92[CEU][hapmap];0.88[CHB][hapmap];0.92[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.80[TSI][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs929734	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs959286	0.82[CHB][hapmap]
rs9808326	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1363062	ACYP2	cis	Esophagus Muscularis	GTEx
rs1363062	ACYP2	cis	Muscle Skeletal	GTEx
rs1363062	C2orf73	cis	cerebellum	SCAN
rs1363062	PSME4	cis	lymphoblastoid	seeQTL
rs1363062	ACYP2	cis	multi-tissue	Pritchard

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54248600-54289800	Weak transcription	Fetal Lung	lung
2	chr2:54266200-54281800	Weak transcription	Fetal Intestine Large	intestine
3	chr2:54268200-54282400	Weak transcription	Right Ventricle	heart
4	chr2:54268400-54286800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:54268400-54290800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:54271400-54286800	Weak transcription	HSMMtube	muscle
7	chr2:54272000-54286600	Weak transcription	HSMM	muscle
8	chr2:54272200-54282800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:54272600-54286600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:54272600-54286800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:54273000-54292400	Weak transcription	Fetal Brain Female	brain
12	chr2:54276800-54286800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:54277200-54281800	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:54277200-54290800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:54278800-54282000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:54278800-54302400	Weak transcription	Left Ventricle	heart
17	chr2:54279800-54281800	Enhancers	Osteobl	bone
18	chr2:54279800-54282000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
19	chr2:54279800-54282000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:54279800-54282000	Enhancers	Brain Anterior Caudate	brain
21	chr2:54280000-54282000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:54280000-54282000	Enhancers	Brain Hippocampus Middle	brain
23	chr2:54280000-54292400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:54280200-54281800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:54280200-54282000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:54280200-54282000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr2:54280200-54282000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr2:54280200-54282000	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr2:54280200-54286600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:54280400-54281800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:54280400-54281800	Flanking Active TSS	GM12878-XiMat	blood
32	chr2:54280400-54281800	Enhancers	K562	blood
33	chr2:54280400-54283400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:54280600-54281800	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr2:54280600-54284400	Weak transcription	Liver	Liver
36	chr2:54280800-54282000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:54280800-54282800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr2:54280800-54283000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr2:54280800-54283200	Weak transcription	Pancreas	Pancrea
40	chr2:54280800-54285000	Weak transcription	Fetal Intestine Small	intestine
41	chr2:54280800-54286400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:54280800-54286800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr2:54280800-54291400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:54280800-54310000	Weak transcription	Ovary	ovary
45	chr2:54280800-54315000	Weak transcription	Adipose Nuclei	Adipose
46	chr2:54280800-54315200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr2:54280800-54331000	Weak transcription	Aorta	Aorta
48	chr2:54281000-54282200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:54281000-54291200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr2:54281200-54281800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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