Variant report

Variant	rs11714282
Chromosome Location	chr3:47184437-47184438
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11130114	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11130115	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11708451	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11712716	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11714373	0.81[EUR][1000 genomes]
rs11716539	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11718795	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11719306	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11719738	0.82[EUR][1000 genomes]
rs12488225	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12489211	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12493425	0.82[EUR][1000 genomes]
rs12629262	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12635619	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13061071	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13062022	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13078131	0.83[ASN][1000 genomes]
rs13084117	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13091054	0.80[ASN][1000 genomes]
rs13094672	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13098228	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1811652	0.82[EUR][1000 genomes]
rs2132173	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4078466	0.80[ASN][1000 genomes]
rs4082155	0.80[ASN][1000 genomes]
rs4682852	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4683320	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4683324	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58956475	0.81[EUR][1000 genomes]
rs62246451	0.82[EUR][1000 genomes]
rs6442059	0.82[EUR][1000 genomes]
rs6763236	0.80[ASN][1000 genomes]
rs6766230	0.82[EUR][1000 genomes]
rs6767907	0.81[EUR][1000 genomes]
rs6772670	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6785790	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6791062	0.80[EUR][1000 genomes]
rs6794193	0.80[ASN][1000 genomes]
rs7615323	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7621911	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7625067	0.80[ASN][1000 genomes]
rs7625070	0.80[ASN][1000 genomes]
rs9818382	0.82[EUR][1000 genomes]
rs9821119	0.82[EUR][1000 genomes]
rs9837343	0.82[EUR][1000 genomes]
rs9843075	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1007714	chr3:47084387-47331570	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv590210	chr3:47126543-47214122	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11714282	KLHL18	Cis_1M	lymphoblastoid	RTeQTL
rs11714282	SETD2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47165800-47187000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr3:47165800-47191000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:47165800-47197000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:47166000-47200800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:47166000-47201200	Weak transcription	Fetal Muscle Leg	muscle
6	chr3:47166000-47204600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:47166200-47197200	Weak transcription	Aorta	Aorta
8	chr3:47166200-47200600	Weak transcription	Hela-S3	cervix
9	chr3:47166400-47194200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:47166600-47204200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr3:47167400-47202400	Weak transcription	HSMM	muscle
12	chr3:47167800-47187600	Weak transcription	Fetal Stomach	stomach
13	chr3:47167800-47195400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:47173600-47191000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr3:47175800-47200400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr3:47176400-47190800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr3:47176600-47184600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr3:47177800-47194200	Weak transcription	Brain Hippocampus Middle	brain
19	chr3:47178000-47190800	Weak transcription	Right Ventricle	heart
20	chr3:47178000-47194200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr3:47178600-47187000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:47178600-47188200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:47178600-47190600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr3:47180000-47188400	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr3:47180400-47185000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr3:47180400-47185000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr3:47180400-47186200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr3:47180600-47185800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr3:47181000-47193600	Weak transcription	Fetal Heart	heart
30	chr3:47181200-47188200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr3:47181600-47184600	Enhancers	Fetal Intestine Large	intestine
32	chr3:47181600-47184800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr3:47181800-47184800	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr3:47181800-47185000	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr3:47182000-47184800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr3:47182000-47186400	Weak transcription	Fetal Brain Female	brain
37	chr3:47182000-47190600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr3:47182000-47192600	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr3:47182000-47195400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:47182600-47190800	Weak transcription	Small Intestine	intestine
41	chr3:47182600-47200800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr3:47182800-47187000	Weak transcription	Right Atrium	heart
43	chr3:47182800-47191000	Weak transcription	Pancreas	Pancrea
44	chr3:47182800-47192000	Weak transcription	Stomach Mucosa	stomach
45	chr3:47182800-47198200	Weak transcription	Primary B cells from cord blood	blood
46	chr3:47183000-47185600	Enhancers	HepG2	liver
47	chr3:47183000-47186200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr3:47183400-47184600	Enhancers	Psoas Muscle	Psoas
49	chr3:47183400-47184800	Enhancers	Duodenum Mucosa	Duodenum
50	chr3:47183400-47189000	Enhancers	Primary T cells fromperipheralblood	blood

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