Variant report

Variant	rs4888258
Chromosome Location	chr16:74634198-74634199
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:74618151..74621167-chr16:74632523..74635578,3	K562	blood:

Extended variants
information (count: 106 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10400930	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1138860	0.85[ASN][1000 genomes]
rs12921903	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12935075	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13339156	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28377859	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28502731	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4072222	0.83[ASN][1000 genomes]
rs4072450	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4243108	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4271617	0.89[ASN][1000 genomes]
rs4286131	0.89[ASN][1000 genomes]
rs4287593	0.89[ASN][1000 genomes]
rs4302071	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4316784	0.88[ASN][1000 genomes]
rs4344772	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4438331	0.90[ASN][1000 genomes]
rs4462623	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4544266	0.81[ASN][1000 genomes]
rs4548905	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4564599	0.93[ASN][1000 genomes]
rs4588013	0.83[EUR][1000 genomes]
rs4887776	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4887777	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4887779	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4888253	0.81[EUR][1000 genomes]
rs4888257	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4888259	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4888260	0.81[AMR][1000 genomes]
rs4888266	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4888270	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57488599	0.83[ASN][1000 genomes]
rs58136167	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6564141	0.80[ASN][1000 genomes]
rs6564142	0.85[EUR][1000 genomes]
rs6564145	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6564146	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6564147	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6564148	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6564149	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6564152	0.94[ASN][1000 genomes]
rs6564153	0.94[ASN][1000 genomes]
rs6564154	0.89[ASN][1000 genomes]
rs6564155	0.86[ASN][1000 genomes]
rs7184754	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7185026	0.81[ASN][1000 genomes]
rs7185722	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7190631	0.84[ASN][1000 genomes]
rs7191754	0.81[ASN][1000 genomes]
rs7193423	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7193508	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7193583	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7193959	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7194143	0.88[ASN][1000 genomes]
rs7194687	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7195135	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7195499	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7196627	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7201105	0.85[EUR][1000 genomes]
rs7204804	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7205258	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7342732	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8045848	0.81[ASN][1000 genomes]
rs8047243	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8047523	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8048133	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8048239	0.80[ASN][1000 genomes]
rs8048596	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8049056	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8050615	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8050624	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8050850	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8052923	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8053084	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8054836	0.80[ASN][1000 genomes]
rs8055784	0.86[ASN][1000 genomes]
rs8055803	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8056718	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8056788	0.80[ASN][1000 genomes]
rs8057279	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8058034	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8058437	0.94[ASN][1000 genomes]
rs8058922	0.85[ASN][1000 genomes]
rs8061156	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8061338	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8062404	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8062959	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9921672	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9923644	0.80[ASN][1000 genomes]
rs9924716	0.84[ASN][1000 genomes]
rs9925807	0.81[ASN][1000 genomes]
rs9927073	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9928181	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9929483	0.83[ASN][1000 genomes]
rs9930003	0.81[ASN][1000 genomes]
rs9931225	0.82[ASN][1000 genomes]
rs9932831	0.90[ASN][1000 genomes]
rs9938833	0.87[ASN][1000 genomes]
rs9939178	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
rs4888258	RFWD3	cis	Esophagus Mucosa	GTEx
rs4888258	MLKL	Cis_1M	lymphoblastoid	RTeQTL
rs4888258	RFWD3	cis	Thyroid	GTEx
rs4888258	RFWD3	Cis_1M	lymphoblastoid	RTeQTL
rs4888258	RFWD3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74605200-74639800	Weak transcription	Esophagus	oesophagus
2	chr16:74606800-74636800	Weak transcription	Lung	lung
3	chr16:74608400-74638200	Weak transcription	Fetal Brain Female	brain
4	chr16:74612000-74638600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr16:74615000-74636800	Weak transcription	Psoas Muscle	Psoas
6	chr16:74615400-74635000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr16:74615400-74637800	Weak transcription	HSMM	muscle
8	chr16:74615800-74637800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr16:74617400-74634600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr16:74618000-74638400	Weak transcription	Brain Substantia Nigra	brain
11	chr16:74618600-74634200	Weak transcription	Dnd41	blood
12	chr16:74618600-74634400	Weak transcription	Small Intestine	intestine
13	chr16:74618600-74634800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr16:74621200-74635400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr16:74621200-74635600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr16:74623600-74635800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr16:74623800-74636800	Weak transcription	Adipose Nuclei	Adipose
18	chr16:74624200-74634200	Weak transcription	Spleen	Spleen
19	chr16:74624200-74634200	Weak transcription	GM12878-XiMat	blood
20	chr16:74624200-74638600	Weak transcription	Placenta	Placenta
21	chr16:74624200-74639200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr16:74624600-74634400	Weak transcription	Primary B cells from cord blood	blood
23	chr16:74626000-74637800	Weak transcription	Fetal Brain Male	brain
24	chr16:74626200-74634800	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr16:74626400-74634800	Weak transcription	Brain Anterior Caudate	brain
26	chr16:74627000-74638000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr16:74627200-74635400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr16:74628000-74638800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr16:74628600-74634200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr16:74628600-74635000	Weak transcription	Brain Angular Gyrus	brain
31	chr16:74628600-74635200	Weak transcription	Colon Smooth Muscle	Colon
32	chr16:74628600-74637400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr16:74628600-74637400	Weak transcription	Liver	Liver
34	chr16:74628600-74637600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr16:74628600-74638000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr16:74628600-74638200	Weak transcription	Colonic Mucosa	Colon
37	chr16:74628800-74634200	Weak transcription	HMEC	breast
38	chr16:74628800-74634400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr16:74628800-74634400	Weak transcription	NHEK	skin
40	chr16:74628800-74634800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr16:74628800-74634800	Weak transcription	A549	lung
42	chr16:74628800-74635000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr16:74628800-74635000	Weak transcription	Brain Hippocampus Middle	brain
44	chr16:74628800-74635400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr16:74628800-74637400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr16:74628800-74637400	Weak transcription	NHDF-Ad	bronchial
47	chr16:74628800-74637400	Weak transcription	Osteobl	bone
48	chr16:74628800-74637600	Weak transcription	NH-A	brain
49	chr16:74628800-74638000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr16:74629200-74634400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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