Variant report

Variant	rs7188050
Chromosome Location	chr16:74531165-74531166
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11640021	0.84[ASN][1000 genomes]
rs11641958	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11644298	0.84[ASN][1000 genomes]
rs12446095	0.90[ASN][1000 genomes]
rs12449071	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12598701	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12716768	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12927939	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12930645	0.84[ASN][1000 genomes]
rs13339161	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13339456	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13380609	0.85[ASN][1000 genomes]
rs1469140	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17672539	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1971071	0.87[AMR][1000 genomes]
rs2098754	0.86[ASN][1000 genomes]
rs2303281	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2549063	0.88[AMR][1000 genomes]
rs2549559	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2550816	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2868035	0.83[AMR][1000 genomes]
rs28762730	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3096409	0.85[AMR][1000 genomes]
rs3865164	0.82[AMR][1000 genomes]
rs3960602	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3973385	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4404098	0.84[AMR][1000 genomes]
rs4887772	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7188197	0.81[ASN][1000 genomes]
rs7189123	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7190577	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7195020	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7195196	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7195198	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8045653	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8053599	0.87[ASN][1000 genomes]
rs918782	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9923616	0.89[AMR][1000 genomes];0.92[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	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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7188050	RFWD3	cis	Skin Sun Exposed Lower leg	GTEx
rs7188050	RFWD3	Cis_1M	lymphoblastoid	RTeQTL
rs7188050	RFWD3	cis	Thyroid	GTEx
rs7188050	MLKL	Cis_1M	lymphoblastoid	RTeQTL
rs7188050	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	chr16:74480400-74531800	Strong transcription	Primary T helper cells fromperipheralblood	blood
2	chr16:74484400-74532200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr16:74485600-74542600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr16:74498800-74544400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr16:74499200-74539200	Strong transcription	Primary B cells from peripheral blood	blood
6	chr16:74503800-74537200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr16:74507000-74535400	Weak transcription	Psoas Muscle	Psoas
8	chr16:74508600-74544000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr16:74513400-74533800	Strong transcription	HepG2	liver
10	chr16:74515200-74535400	Weak transcription	Stomach Mucosa	stomach
11	chr16:74518600-74535400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:74519000-74533800	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr16:74521400-74533800	Strong transcription	Primary T cells from cord blood	blood
14	chr16:74521800-74534000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr16:74522000-74542400	Weak transcription	NHDF-Ad	bronchial
16	chr16:74522000-74544600	Weak transcription	Right Ventricle	heart
17	chr16:74525200-74533400	Weak transcription	Brain Angular Gyrus	brain
18	chr16:74525200-74535000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr16:74525200-74535200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr16:74525200-74535200	Weak transcription	Fetal Kidney	kidney
21	chr16:74525200-74535400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr16:74525200-74535800	Weak transcription	Aorta	Aorta
23	chr16:74525200-74539600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr16:74525200-74542000	Weak transcription	K562	blood
25	chr16:74525200-74565200	Weak transcription	Fetal Brain Male	brain
26	chr16:74525400-74535400	Weak transcription	HMEC	breast
27	chr16:74525400-74537200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr16:74525400-74543000	Weak transcription	NHLF	lung
29	chr16:74525400-74561000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr16:74525400-74572200	Weak transcription	HUVEC	blood vessel
31	chr16:74526400-74544000	Weak transcription	Fetal Brain Female	brain
32	chr16:74526600-74536800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr16:74527200-74535400	Weak transcription	Pancreas	Pancrea
34	chr16:74527200-74535800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr16:74527200-74537400	Weak transcription	NHEK	skin
36	chr16:74527200-74541400	Weak transcription	Esophagus	oesophagus
37	chr16:74527200-74544600	Weak transcription	Gastric	stomach
38	chr16:74527200-74544800	Weak transcription	Ovary	ovary
39	chr16:74527200-74545800	Weak transcription	Spleen	Spleen
40	chr16:74527200-74555600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr16:74527400-74533400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr16:74527400-74534800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr16:74527400-74535000	Weak transcription	Fetal Heart	heart
44	chr16:74527400-74539200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr16:74527400-74554600	Weak transcription	HSMMtube	muscle
46	chr16:74527600-74535400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr16:74527600-74537200	Weak transcription	Hela-S3	cervix
48	chr16:74527600-74537600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr16:74527800-74534200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr16:74527800-74535000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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