Variant report

Variant	rs8049138
Chromosome Location	chr16:74593137-74593138
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10400930	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10468356	0.90[ASN][1000 genomes]
rs12445991	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12448026	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2550824	0.83[ASN][1000 genomes]
rs28377859	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28683674	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3923201	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4302071	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4344772	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4600490	0.91[ASN][1000 genomes]
rs4888253	0.92[ASN][1000 genomes]
rs4888256	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4888257	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4888259	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs55960814	0.89[ASN][1000 genomes]
rs62054177	0.87[ASN][1000 genomes]
rs6564141	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6564142	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6564145	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs6564146	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6564147	0.83[AFR][1000 genomes]
rs6564148	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6564152	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6564153	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6564154	0.81[EUR][1000 genomes]
rs67414268	0.87[ASN][1000 genomes]
rs71392603	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7185026	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7185722	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7195135	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7201105	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7203452	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7204804	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7205813	0.93[ASN][1000 genomes]
rs7359390	0.92[ASN][1000 genomes]
rs8046158	0.87[ASN][1000 genomes]
rs8047243	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8048133	0.80[EUR][1000 genomes]
rs8048239	0.94[ASN][1000 genomes]
rs8048596	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8050668	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8050850	0.95[ASN][1000 genomes]
rs8051990	0.93[ASN][1000 genomes]
rs8052389	0.89[ASN][1000 genomes]
rs8053084	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8053369	0.93[ASN][1000 genomes]
rs8055380	0.93[ASN][1000 genomes]
rs8055803	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8056718	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8056788	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8058034	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8058256	0.83[ASN][1000 genomes]
rs8058437	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8058692	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8062404	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9888950	0.92[ASN][1000 genomes]
rs9888968	0.87[ASN][1000 genomes]
rs9888976	0.86[ASN][1000 genomes]
rs9923644	0.94[ASN][1000 genomes]
rs9927073	0.84[EUR][1000 genomes]
rs9929933	0.91[ASN][1000 genomes]
rs9930003	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9932735	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9938859	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948443	chr16:73994997-74627711	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv916687	chr16:74241238-74896721	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
3	nsv949374	chr16:74466960-75172358	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	nsv1060629	chr16:74483574-74660669	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv1062517	chr16:74483574-74710623	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv833279	chr16:74490746-74663073	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
8	nsv906905	chr16:74527618-74679244	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	esv32537	chr16:74585738-74593139	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8049138	RFWD3	Cis_1M	lymphoblastoid	RTeQTL
rs8049138	MLKL	Cis_1M	lymphoblastoid	RTeQTL
rs8049138	RFWD3	cis	Esophagus Mucosa	GTEx

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74537600-74604800	Weak transcription	Thymus	Thymus
2	chr16:74556400-74595600	Weak transcription	NH-A	brain
3	chr16:74559200-74594000	Weak transcription	Ovary	ovary
4	chr16:74563200-74598000	Weak transcription	Fetal Intestine Small	intestine
5	chr16:74563200-74622400	Weak transcription	Fetal Stomach	stomach
6	chr16:74565000-74597000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:74565600-74597000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr16:74578600-74597400	Weak transcription	Pancreas	Pancrea
9	chr16:74579200-74597200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr16:74580200-74593400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr16:74582600-74595000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr16:74582800-74594800	Weak transcription	Left Ventricle	heart
13	chr16:74582800-74595000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr16:74583000-74595600	Weak transcription	Hela-S3	cervix
15	chr16:74583000-74617200	Weak transcription	Fetal Muscle Leg	muscle
16	chr16:74585000-74597400	Weak transcription	Esophagus	oesophagus
17	chr16:74585400-74601000	Weak transcription	Fetal Thymus	thymus
18	chr16:74586400-74594800	Weak transcription	Liver	Liver
19	chr16:74587600-74612200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr16:74587800-74593800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr16:74588200-74596800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr16:74588200-74623200	Weak transcription	Primary B cells from cord blood	blood
23	chr16:74588400-74595600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr16:74588400-74597200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr16:74589000-74594800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr16:74589000-74595000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr16:74589000-74595600	Weak transcription	HUVEC	blood vessel
28	chr16:74589600-74594800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr16:74589800-74595600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr16:74589800-74626800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr16:74590000-74596800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr16:74590000-74607000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr16:74590200-74595000	Weak transcription	Brain Anterior Caudate	brain
34	chr16:74590200-74597000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr16:74590200-74597800	Weak transcription	NHLF	lung
36	chr16:74590200-74614600	Weak transcription	Adipose Nuclei	Adipose
37	chr16:74590400-74595200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr16:74590400-74607600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr16:74590600-74594800	Weak transcription	Lung	lung
40	chr16:74590600-74597400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr16:74590600-74601200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr16:74591000-74593400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr16:74591000-74593400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr16:74591000-74594800	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr16:74591000-74594800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr16:74591000-74597000	Weak transcription	Fetal Kidney	kidney
47	chr16:74591000-74597400	Weak transcription	HSMM	muscle
48	chr16:74591000-74602600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr16:74591000-74602600	Weak transcription	NHEK	skin
50	chr16:74591000-74624000	Weak transcription	Aorta	Aorta

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