Variant report

Variant	rs11924013
Chromosome Location	chr3:101366698-101366699
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	chr3:101357931..101359900-chr3:101366433..101368278,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1031710	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1056579	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1138818	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11706986	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11710533	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11710805	0.81[ASN][1000 genomes]
rs11711079	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11712748	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11714278	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11717046	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11720745	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11914318	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11917569	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11917682	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11919389	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11923273	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11925001	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12629658	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12629954	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12635128	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12636557	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12639028	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13059470	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13060963	0.83[ASN][1000 genomes]
rs13061565	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13065944	0.83[ASN][1000 genomes]
rs13066768	0.88[ASN][1000 genomes]
rs13069443	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13077703	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13077925	0.88[ASN][1000 genomes]
rs13081846	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13082236	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13099674	0.88[ASN][1000 genomes]
rs13100262	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17411983	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1963961	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1963962	0.88[ASN][1000 genomes]
rs2288272	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2303474	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2318090	0.88[ASN][1000 genomes]
rs3094295	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3094296	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3094297	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3109756	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34181125	0.88[ASN][1000 genomes]
rs34301719	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34376498	0.88[ASN][1000 genomes]
rs34624546	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34883763	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35117343	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35850993	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36002990	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36060163	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3806653	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3806654	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3864012	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55654108	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55821257	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55859364	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56291106	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59596156	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62282218	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62284162	0.81[EUR][1000 genomes]
rs62284198	0.88[ASN][1000 genomes]
rs62284199	0.88[ASN][1000 genomes]
rs71625262	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7629753	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7645391	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7651406	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7651721	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9830943	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497784	chr3:101315009-102092989	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv511216	chr3:101349644-101366921	Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11924013	RP11-49I4.3	cis	Esophagus Muscularis	GTEx
rs11924013	NXPE3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101350600-101366800	Weak transcription	Fetal Brain Female	brain
2	chr3:101354800-101366800	Weak transcription	Fetal Muscle Leg	muscle
3	chr3:101355000-101366800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:101355200-101367400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:101355200-101367600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr3:101355600-101367000	Weak transcription	A549	lung
7	chr3:101355600-101367000	Weak transcription	Dnd41	blood
8	chr3:101355600-101367400	Weak transcription	Right Ventricle	heart
9	chr3:101355600-101368600	Weak transcription	GM12878-XiMat	blood
10	chr3:101356000-101367400	Weak transcription	Aorta	Aorta
11	chr3:101357400-101367400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:101357800-101369400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:101361000-101367000	Weak transcription	Placenta	Placenta
14	chr3:101361400-101366800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:101362800-101369800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr3:101362800-101391600	Weak transcription	Stomach Mucosa	stomach
17	chr3:101363000-101367600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:101363000-101369800	Weak transcription	Brain Angular Gyrus	brain
19	chr3:101363000-101381800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr3:101363000-101394400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr3:101363200-101366800	Weak transcription	Fetal Lung	lung
22	chr3:101363200-101367000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr3:101363200-101367200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr3:101363200-101367400	Weak transcription	Esophagus	oesophagus
25	chr3:101363200-101369800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr3:101363200-101369800	Weak transcription	Small Intestine	intestine
27	chr3:101363200-101370000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr3:101363200-101394400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr3:101363400-101366800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:101363400-101367200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr3:101363400-101367200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:101363400-101367400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:101363400-101367400	Weak transcription	NH-A	brain
34	chr3:101363400-101367400	Weak transcription	NHLF	lung
35	chr3:101363400-101368000	Weak transcription	K562	blood
36	chr3:101363400-101368600	Weak transcription	NHDF-Ad	bronchial
37	chr3:101363400-101368800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr3:101363400-101382800	Weak transcription	Fetal Heart	heart
39	chr3:101363400-101391400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr3:101363600-101366800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr3:101363600-101367000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr3:101363600-101367000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr3:101363600-101367000	Weak transcription	HSMM	muscle
44	chr3:101363600-101367200	Weak transcription	Brain Hippocampus Middle	brain
45	chr3:101363800-101366800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr3:101363800-101367000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr3:101363800-101367200	Weak transcription	Thymus	Thymus
48	chr3:101364000-101367000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr3:101364000-101369200	Weak transcription	HUVEC	blood vessel
50	chr3:101364000-101369800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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