Variant report

Variant	rs1985611
Chromosome Location	chr16:74511765-74511766
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1019572	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10500587	0.93[ASN][1000 genomes]
rs1132843	0.80[ASN][1000 genomes]
rs11639812	0.96[ASN][1000 genomes]
rs11640021	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11640632	0.91[ASN][1000 genomes]
rs11641958	0.84[ASN][1000 genomes]
rs11643293	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11644298	0.80[ASN][1000 genomes]
rs11647149	0.80[ASN][1000 genomes]
rs12325017	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12446054	0.85[ASN][1000 genomes]
rs12446095	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12447531	0.99[ASN][1000 genomes]
rs12449071	0.88[ASN][1000 genomes]
rs12449125	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12598701	0.86[ASN][1000 genomes]
rs12716768	0.80[ASN][1000 genomes]
rs12927939	0.80[ASN][1000 genomes]
rs12930645	0.80[ASN][1000 genomes]
rs13339161	0.86[ASN][1000 genomes]
rs13339456	0.81[ASN][1000 genomes]
rs13380609	0.82[ASN][1000 genomes]
rs1469140	0.88[ASN][1000 genomes]
rs17672539	0.89[ASN][1000 genomes]
rs2098754	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2288053	0.85[ASN][1000 genomes]
rs2303275	0.86[ASN][1000 genomes]
rs2303277	0.87[ASN][1000 genomes]
rs2303278	0.96[ASN][1000 genomes]
rs2303281	0.91[ASN][1000 genomes]
rs28762730	0.83[ASN][1000 genomes]
rs35209570	0.90[ASN][1000 genomes]
rs3785312	0.94[ASN][1000 genomes]
rs3826239	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3851730	0.80[ASN][1000 genomes]
rs4887772	0.86[ASN][1000 genomes]
rs4888240	0.83[ASN][1000 genomes]
rs4888242	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6564117	0.95[ASN][1000 genomes]
rs7189123	0.81[ASN][1000 genomes]
rs7190577	0.86[ASN][1000 genomes]
rs7195196	0.87[ASN][1000 genomes]
rs7195198	0.87[ASN][1000 genomes]
rs8053599	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs918782	0.92[ASN][1000 genomes]
rs9923616	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv1066212	chr16:74068470-74527133	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv542954	chr16:74068470-74527133	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1065964	chr16:74088091-74575604	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	34 gene(s)	inside rSNPs	diseases
5	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
6	esv2758431	chr16:74334780-74587185	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	esv2758656	chr16:74334780-74587185	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv428806	chr16:74394226-74580125	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv833278	chr16:74415944-74584123	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	nsv978169	chr16:74507776-74560104	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1985611	RFWD3	Cis_1M	lymphoblastoid	RTeQTL
rs1985611	MLKL	Cis_1M	lymphoblastoid	RTeQTL
rs1985611	RFWD3	cis	Esophagus Mucosa	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74480400-74530800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr16:74480400-74530800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr16:74480400-74531800	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr16:74480600-74530600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr16:74480800-74530600	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr16:74480800-74530800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:74481200-74520000	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr16:74481200-74520200	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr16:74481800-74519800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr16:74482000-74514600	Strong transcription	Fetal Thymus	thymus
11	chr16:74483000-74530600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr16:74483000-74530800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr16:74483200-74520000	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr16:74483200-74520400	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr16:74483800-74514400	Strong transcription	Fetal Muscle Trunk	muscle
16	chr16:74483800-74530600	Strong transcription	Liver	Liver
17	chr16:74484000-74513600	Strong transcription	Fetal Muscle Leg	muscle
18	chr16:74484200-74512200	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr16:74484200-74516800	Strong transcription	Fetal Stomach	stomach
20	chr16:74484400-74512400	Strong transcription	Placenta	Placenta
21	chr16:74484400-74532200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr16:74485000-74530800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr16:74485200-74514800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr16:74485400-74512600	Strong transcription	Adipose Nuclei	Adipose
25	chr16:74485600-74542600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr16:74488600-74512600	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr16:74488600-74519800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr16:74488600-74520200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr16:74488800-74512200	Strong transcription	Brain Anterior Caudate	brain
30	chr16:74488800-74512400	Strong transcription	Stomach Smooth Muscle	stomach
31	chr16:74488800-74530600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr16:74489000-74520200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr16:74489200-74531000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr16:74490800-74513800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr16:74494800-74513800	Strong transcription	Fetal Lung	lung
36	chr16:74495600-74511800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr16:74495600-74512400	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr16:74495600-74514600	Strong transcription	Dnd41	blood
39	chr16:74495800-74512600	Strong transcription	Primary B cells from cord blood	blood
40	chr16:74496400-74512400	Strong transcription	Brain Hippocampus Middle	brain
41	chr16:74496600-74512600	Strong transcription	Brain Angular Gyrus	brain
42	chr16:74497000-74519400	Weak transcription	Fetal Brain Male	brain
43	chr16:74498800-74544400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr16:74499200-74539200	Strong transcription	Primary B cells from peripheral blood	blood
45	chr16:74500000-74512400	Strong transcription	NHDF-Ad	bronchial
46	chr16:74500200-74512400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr16:74500200-74513400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr16:74500400-74512400	Strong transcription	Osteobl	bone
49	chr16:74500600-74512400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr16:74501400-74520000	Strong transcription	Primary T cells from cord blood	blood

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