Variant report

Variant	rs10911644
Chromosome Location	chr1:184695996-184695997
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184692034..184695028-chr1:184695067..184697135,2	K562	blood:
2	chr1:184694488..184696027-chr1:184706651..184709157,2	K562	blood:
3	chr1:184694527..184697597-chr1:184706651..184709728,3	K562	blood:
4	chr1:184688642..184690448-chr1:184695282..184698252,2	K562	blood:
5	chr1:184673163..184675215-chr1:184695509..184697119,2	K562	blood:

Variant related genes	Relation type
ENSG00000116406	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1061508	0.91[CHB][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap]
rs1062994	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10911631	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10911633	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10911634	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10911636	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10911645	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11808675	0.84[EUR][1000 genomes]
rs12031028	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12032144	0.81[AMR][1000 genomes]
rs12071631	0.85[GIH][hapmap]
rs12124929	0.82[ASW][hapmap];0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];0.92[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12126231	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131285	0.82[ASW][hapmap];0.95[CEU][hapmap];0.81[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];0.90[MKK][hapmap];0.84[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12133128	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12137438	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12184284	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12567225	0.82[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12567226	0.82[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2024767	0.83[GIH][hapmap]
rs2064605	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2333715	0.82[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2333716	0.87[GIH][hapmap]
rs2877994	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3736757	0.83[GIH][hapmap]
rs4233120	0.82[EUR][1000 genomes]
rs4651230	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs543912	0.82[ASW][hapmap]
rs641337	0.82[ASW][hapmap]
rs6663178	0.81[GIH][hapmap]
rs67359172	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs726427	0.87[JPT][hapmap]
rs861574	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs861575	0.87[CEU][hapmap];0.81[GIH][hapmap];0.83[EUR][1000 genomes]
rs861576	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs861577	0.83[EUR][1000 genomes]
rs861578	0.86[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap]
rs861581	0.86[CHB][hapmap];0.84[CHD][hapmap];0.81[GIH][hapmap];0.91[JPT][hapmap]
rs861583	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9425338	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9425340	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9425343	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9425632	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9425634	0.91[ASN][1000 genomes]
rs971081	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv832037	chr1:184568194-184756597	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv832048	chr1:184660146-184858802	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv1010371	chr1:184663898-184709570	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1009529	chr1:184663898-184731215	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1001244	chr1:184667198-184715195	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv1849889	chr1:184667371-184718601	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv872584	chr1:184678290-184716457	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10911644	EDEM3	cis	Esophagus Muscularis	GTEx
rs10911644	EDEM3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184653200-184705000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:184654000-184710800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:184654200-184701200	Weak transcription	Stomach Mucosa	stomach
4	chr1:184654200-184710000	Weak transcription	Esophagus	oesophagus
5	chr1:184658400-184706800	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:184659200-184707000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:184660000-184704200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr1:184661000-184705600	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr1:184661200-184707800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:184662000-184698000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:184662200-184706600	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr1:184662600-184699400	Weak transcription	Psoas Muscle	Psoas
13	chr1:184665200-184706800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr1:184665600-184700400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:184666200-184704600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:184668400-184707000	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr1:184669200-184707000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:184669400-184707000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:184671200-184707400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr1:184673200-184699400	Weak transcription	Gastric	stomach
21	chr1:184673200-184702800	Weak transcription	Spleen	Spleen
22	chr1:184674600-184723000	Weak transcription	Aorta	Aorta
23	chr1:184674800-184702200	Strong transcription	Primary B cells from peripheral blood	blood
24	chr1:184677400-184702800	Weak transcription	Pancreas	Pancrea
25	chr1:184677600-184723200	Weak transcription	Lung	lung
26	chr1:184678800-184710800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:184681400-184704800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr1:184685000-184701400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:184685000-184701800	Weak transcription	A549	lung
30	chr1:184685000-184721800	Weak transcription	Fetal Heart	heart
31	chr1:184685400-184696000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:184685400-184722800	Weak transcription	Ovary	ovary
33	chr1:184685600-184700600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:184685600-184701600	Weak transcription	Brain Angular Gyrus	brain
35	chr1:184685600-184703600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:184685600-184706000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr1:184685600-184711200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr1:184685600-184714400	Weak transcription	Brain Substantia Nigra	brain
39	chr1:184685600-184721000	Weak transcription	Right Ventricle	heart
40	chr1:184685600-184722600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr1:184685800-184698000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr1:184685800-184707000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:184685800-184715000	Weak transcription	Small Intestine	intestine
44	chr1:184686000-184703000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:184686200-184696000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:184686200-184701800	Weak transcription	Fetal Kidney	kidney
47	chr1:184686200-184703000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr1:184686200-184722600	Weak transcription	Brain Germinal Matrix	brain
49	chr1:184686400-184715600	Weak transcription	Colonic Mucosa	Colon
50	chr1:184688800-184698800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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