Variant report

Variant	rs62052135
Chromosome Location	chr16:74534034-74534035
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs3815826	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62052138	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62054167	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9788852	0.94[AMR][1000 genomes];0.91[EUR][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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62052135	RFWD3	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74485600-74542600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:74498800-74544400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:74499200-74539200	Strong transcription	Primary B cells from peripheral blood	blood
4	chr16:74503800-74537200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:74507000-74535400	Weak transcription	Psoas Muscle	Psoas
6	chr16:74508600-74544000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr16:74515200-74535400	Weak transcription	Stomach Mucosa	stomach
8	chr16:74518600-74535400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:74522000-74542400	Weak transcription	NHDF-Ad	bronchial
10	chr16:74522000-74544600	Weak transcription	Right Ventricle	heart
11	chr16:74525200-74535000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr16:74525200-74535200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr16:74525200-74535200	Weak transcription	Fetal Kidney	kidney
14	chr16:74525200-74535400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr16:74525200-74535800	Weak transcription	Aorta	Aorta
16	chr16:74525200-74539600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr16:74525200-74542000	Weak transcription	K562	blood
18	chr16:74525200-74565200	Weak transcription	Fetal Brain Male	brain
19	chr16:74525400-74535400	Weak transcription	HMEC	breast
20	chr16:74525400-74537200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr16:74525400-74543000	Weak transcription	NHLF	lung
22	chr16:74525400-74561000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr16:74525400-74572200	Weak transcription	HUVEC	blood vessel
24	chr16:74526400-74544000	Weak transcription	Fetal Brain Female	brain
25	chr16:74526600-74536800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr16:74527200-74535400	Weak transcription	Pancreas	Pancrea
27	chr16:74527200-74535800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr16:74527200-74537400	Weak transcription	NHEK	skin
29	chr16:74527200-74541400	Weak transcription	Esophagus	oesophagus
30	chr16:74527200-74544600	Weak transcription	Gastric	stomach
31	chr16:74527200-74544800	Weak transcription	Ovary	ovary
32	chr16:74527200-74545800	Weak transcription	Spleen	Spleen
33	chr16:74527200-74555600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr16:74527400-74534800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr16:74527400-74535000	Weak transcription	Fetal Heart	heart
36	chr16:74527400-74539200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr16:74527400-74554600	Weak transcription	HSMMtube	muscle
38	chr16:74527600-74535400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr16:74527600-74537200	Weak transcription	Hela-S3	cervix
40	chr16:74527600-74537600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr16:74527800-74534200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr16:74527800-74535000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr16:74527800-74535400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr16:74528000-74547600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr16:74528200-74535600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr16:74528200-74539400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr16:74528200-74541800	Weak transcription	Left Ventricle	heart
48	chr16:74528400-74555800	Weak transcription	Small Intestine	intestine
49	chr16:74529000-74537200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr16:74529200-74535800	Weak transcription	Muscle Satellite Cultured Cells	--

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