Variant report

Variant	rs10911636
Chromosome Location	chr1:184669803-184669804
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	chr1:184669558..184672098-chr1:184694218..184695882,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1061508	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes]
rs1062994	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10911631	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10911633	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911634	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911644	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10911645	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11808675	0.85[EUR][1000 genomes]
rs12031028	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12124929	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12126231	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12131285	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12133128	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12137438	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12184284	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12567225	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12567226	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2064605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2333715	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2877994	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4233120	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4651230	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6662416	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs67359172	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs726427	0.87[JPT][hapmap]
rs861574	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs861575	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs861576	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs861577	0.82[EUR][1000 genomes]
rs861578	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs861581	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs861583	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9425338	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9425340	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9425343	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9425632	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9425634	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9425635	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs971081	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[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	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription 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	10 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10911636	EDEM3	Cis_1M	lymphoblastoid	RTeQTL
rs10911636	EDEM3	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184641400-184672800	Weak transcription	Gastric	stomach
2	chr1:184653200-184705000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:184654000-184710800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:184654200-184672000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:184654200-184701200	Weak transcription	Stomach Mucosa	stomach
6	chr1:184654200-184710000	Weak transcription	Esophagus	oesophagus
7	chr1:184654400-184675400	Weak transcription	Pancreas	Pancrea
8	chr1:184654600-184672400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:184656000-184672000	Weak transcription	HepG2	liver
10	chr1:184656400-184672800	Weak transcription	Spleen	Spleen
11	chr1:184656600-184670200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:184656600-184684000	Weak transcription	Fetal Heart	heart
13	chr1:184657000-184672600	Weak transcription	Lung	lung
14	chr1:184657200-184672800	Weak transcription	Fetal Intestine Small	intestine
15	chr1:184657400-184672800	Weak transcription	Fetal Stomach	stomach
16	chr1:184657800-184670200	Weak transcription	HMEC	breast
17	chr1:184658400-184706800	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr1:184659000-184672600	Weak transcription	Aorta	Aorta
19	chr1:184659200-184707000	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr1:184659400-184676800	Weak transcription	Fetal Brain Male	brain
21	chr1:184660000-184704200	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr1:184660800-184680400	Weak transcription	Right Ventricle	heart
23	chr1:184661000-184678600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr1:184661000-184705600	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr1:184661200-184690400	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr1:184661200-184707800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:184661400-184671200	Weak transcription	Fetal Kidney	kidney
28	chr1:184661400-184678600	Strong transcription	Liver	Liver
29	chr1:184661400-184690400	Strong transcription	Duodenum Mucosa	Duodenum
30	chr1:184661600-184670800	Weak transcription	A549	lung
31	chr1:184661600-184672800	Weak transcription	Small Intestine	intestine
32	chr1:184661600-184693200	Strong transcription	Dnd41	blood
33	chr1:184662000-184698000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:184662200-184671600	Weak transcription	Hela-S3	cervix
35	chr1:184662200-184706600	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr1:184662600-184699400	Weak transcription	Psoas Muscle	Psoas
37	chr1:184663200-184670800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr1:184663200-184671000	Weak transcription	Colon Smooth Muscle	Colon
39	chr1:184663200-184671000	Weak transcription	Thymus	Thymus
40	chr1:184663200-184671000	Weak transcription	NH-A	brain
41	chr1:184663200-184671200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr1:184663200-184672800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:184663200-184672800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:184663200-184676600	Weak transcription	NHEK	skin
45	chr1:184663400-184671000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:184663400-184671000	Weak transcription	Brain Angular Gyrus	brain
47	chr1:184663400-184671000	Weak transcription	Brain Anterior Caudate	brain
48	chr1:184663400-184672000	Weak transcription	Colonic Mucosa	Colon
49	chr1:184663400-184672600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr1:184663400-184672800	Weak transcription	Ovary	ovary

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