Variant report

Variant	rs4072222
Chromosome Location	chr16:74706736-74706737
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:74705804..74707592-chr16:74710539..74712137,2	K562	blood:
2	chr16:74705992..74708516-chr16:74714300..74716773,2	K562	blood:
3	chr16:74703915..74707492-chr16:74713213..74716773,3	K562	blood:
4	chr16:74706156..74708120-chr16:74711349..74714114,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168404	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10400930	0.83[ASN][1000 genomes]
rs11644298	0.92[JPT][hapmap]
rs11648868	0.92[JPT][hapmap]
rs12445991	1.00[JPT][hapmap]
rs12448026	0.83[CHB][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap]
rs12598701	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs12921903	0.84[ASN][1000 genomes]
rs12935075	0.87[ASN][1000 genomes]
rs13339156	0.84[ASN][1000 genomes]
rs13339161	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs1469140	0.83[CHB][hapmap];0.92[JPT][hapmap]
rs2098754	0.92[JPT][hapmap];0.83[MKK][hapmap]
rs2303281	0.83[CHB][hapmap];0.92[JPT][hapmap]
rs28377859	0.84[ASN][1000 genomes]
rs28502731	0.83[ASN][1000 genomes]
rs28681530	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4072450	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs4243108	0.92[CHB][hapmap];0.86[CHD][hapmap];0.92[JPT][hapmap];0.90[MKK][hapmap];0.93[ASN][1000 genomes]
rs4271617	0.89[ASN][1000 genomes]
rs4286131	0.89[ASN][1000 genomes]
rs4287593	0.89[ASN][1000 genomes]
rs4302071	0.83[ASN][1000 genomes]
rs4438331	1.00[JPT][hapmap]
rs4462623	0.93[ASN][1000 genomes]
rs4476202	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4548905	0.83[ASN][1000 genomes]
rs4564599	0.88[ASN][1000 genomes]
rs4588013	0.88[ASN][1000 genomes]
rs4600490	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs4887772	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs4887776	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4887777	0.83[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4887779	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4888253	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs4888256	0.83[CHB][hapmap];0.92[JPT][hapmap];0.85[MKK][hapmap]
rs4888258	0.83[ASN][1000 genomes]
rs4888259	0.82[ASN][1000 genomes]
rs4888262	0.81[ASW][hapmap];0.85[CEU][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.83[MEX][hapmap];0.97[MKK][hapmap];0.89[TSI][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4888264	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4888265	0.81[ASW][hapmap];0.89[CEU][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];0.95[MKK][hapmap];0.84[TSI][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4888266	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4888267	0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4888270	0.96[ASN][1000 genomes]
rs4888271	0.83[AMR][1000 genomes]
rs4888274	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56099065	0.82[AMR][1000 genomes]
rs57488599	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58136167	0.99[ASN][1000 genomes]
rs6564146	0.81[ASN][1000 genomes]
rs6564147	0.82[ASN][1000 genomes]
rs6564148	0.82[ASN][1000 genomes]
rs6564149	0.83[ASN][1000 genomes]
rs6564152	0.85[ASN][1000 genomes]
rs6564153	0.85[ASN][1000 genomes]
rs6564154	0.83[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.89[ASN][1000 genomes]
rs6564155	0.90[ASN][1000 genomes]
rs6564157	0.92[CHB][hapmap];0.81[JPT][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6564159	0.85[JPT][hapmap]
rs7184754	0.88[ASN][1000 genomes]
rs7185026	0.83[CHB][hapmap];0.92[JPT][hapmap];0.85[MKK][hapmap]
rs7185722	0.85[ASN][1000 genomes]
rs7188880	0.81[EUR][1000 genomes]
rs7189123	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs7190631	0.84[ASN][1000 genomes]
rs7191665	0.81[ASW][hapmap];0.89[CEU][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.92[MEX][hapmap];0.95[MKK][hapmap];0.86[TSI][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7193423	0.84[ASN][1000 genomes]
rs7193508	0.84[ASN][1000 genomes]
rs7193583	0.83[ASN][1000 genomes]
rs7193959	0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7194143	1.00[JPT][hapmap]
rs7194687	0.83[ASN][1000 genomes]
rs7195499	0.93[ASN][1000 genomes]
rs7196369	0.87[CHD][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs7201320	0.81[ASW][hapmap];0.89[CEU][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];0.95[MKK][hapmap];0.86[TSI][hapmap];0.83[YRI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7203452	0.83[CHB][hapmap];0.92[JPT][hapmap];0.85[MKK][hapmap]
rs7204382	0.82[CHB][hapmap];0.82[CHD][hapmap];0.86[MKK][hapmap];0.92[ASN][1000 genomes]
rs7204804	0.83[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.85[ASN][1000 genomes]
rs7205258	0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7342732	0.92[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.90[MKK][hapmap];0.96[ASN][1000 genomes]
rs8045848	0.92[JPT][hapmap]
rs8047243	0.80[ASN][1000 genomes]
rs8049056	0.83[ASN][1000 genomes]
rs8050615	0.80[ASN][1000 genomes]
rs8050624	0.92[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.90[MKK][hapmap];0.90[ASN][1000 genomes]
rs8052367	0.82[EUR][1000 genomes]
rs8052923	0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs8053084	0.81[ASN][1000 genomes]
rs8055784	0.83[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.87[MKK][hapmap];0.95[ASN][1000 genomes]
rs8055803	0.80[ASN][1000 genomes]
rs8056718	0.82[ASN][1000 genomes]
rs8057279	0.84[ASN][1000 genomes]
rs8058034	0.83[ASN][1000 genomes]
rs8058133	0.85[JPT][hapmap];0.83[YRI][hapmap]
rs8058437	0.80[ASN][1000 genomes]
rs8058692	0.83[CHB][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap]
rs8058922	0.83[CHB][hapmap];0.86[CHD][hapmap];0.92[JPT][hapmap];0.87[MKK][hapmap];0.89[ASN][1000 genomes]
rs8059780	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8059869	0.85[JPT][hapmap]
rs8061942	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8062404	0.82[ASN][1000 genomes]
rs8062783	0.81[ASW][hapmap];0.89[CEU][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];0.95[MKK][hapmap];0.84[TSI][hapmap];0.83[YRI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8062959	0.84[ASN][1000 genomes]
rs918782	0.83[CHB][hapmap];0.92[JPT][hapmap];0.85[MKK][hapmap]
rs9888976	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs9921672	0.81[ASN][1000 genomes]
rs9923145	0.81[ASW][hapmap];0.89[CEU][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.92[MEX][hapmap];0.96[MKK][hapmap];0.84[TSI][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9923616	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs9925807	0.83[ASN][1000 genomes]
rs9927073	0.83[CHB][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];0.80[ASN][1000 genomes]
rs9928181	0.83[ASN][1000 genomes]
rs9929483	0.83[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9929496	0.81[EUR][1000 genomes]
rs9931225	0.81[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9932831	1.00[JPT][hapmap]
rs9938833	0.83[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
4	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
5	esv275138	chr16:74647795-74722907	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	esv2760414	chr16:74647795-74741615	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv1061948	chr16:74660609-74882915	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers 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	67 gene(s)	inside rSNPs	diseases
8	nsv542957	chr16:74660609-74882915	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
9	nsv906906	chr16:74664743-74805668	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
10	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
11	nsv906907	chr16:74702254-74785902	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs4072222	MLKL	cis	multi-tissue	Pritchard
rs4072222	RFWD3	cis	Whole Blood	GTEx
rs4072222	RFWD3	cis	Esophagus Mucosa	GTEx
rs4072222	CYB5B	cis	parietal	SCAN
rs4072222	DHODH	cis	parietal	SCAN
rs4072222	RFWD3	cis	multi-tissue	Pritchard
rs4072222	RFWD3	cis	parietal	SCAN

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74701600-74712000	Weak transcription	Pancreas	Pancrea
2	chr16:74701600-74730000	Weak transcription	Stomach Mucosa	stomach
3	chr16:74701800-74707200	Weak transcription	Fetal Intestine Small	intestine
4	chr16:74701800-74708800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr16:74701800-74709000	Weak transcription	Fetal Stomach	stomach
6	chr16:74701800-74709400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr16:74701800-74710000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr16:74701800-74711400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr16:74701800-74712800	Weak transcription	Placenta	Placenta
10	chr16:74701800-74715400	Weak transcription	Brain Angular Gyrus	brain
11	chr16:74701800-74724600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr16:74701800-74725400	Weak transcription	Ovary	ovary
13	chr16:74701800-74725400	Weak transcription	NHLF	lung
14	chr16:74701800-74729600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr16:74701800-74729800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr16:74701800-74730000	Weak transcription	Brain Substantia Nigra	brain
17	chr16:74701800-74734000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:74702000-74706800	Weak transcription	Primary B cells from cord blood	blood
19	chr16:74702000-74706800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr16:74702000-74707600	Weak transcription	Osteobl	bone
21	chr16:74702000-74708600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr16:74702000-74708600	Weak transcription	Brain Hippocampus Middle	brain
23	chr16:74702000-74708600	Weak transcription	NHEK	skin
24	chr16:74702000-74708800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr16:74702000-74711200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr16:74702000-74711800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr16:74702000-74712000	Weak transcription	Right Ventricle	heart
28	chr16:74702000-74712600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr16:74702000-74713400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr16:74702000-74713600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr16:74702000-74725000	Weak transcription	Fetal Intestine Large	intestine
32	chr16:74702000-74725200	Weak transcription	Fetal Muscle Leg	muscle
33	chr16:74702000-74725200	Weak transcription	NHDF-Ad	bronchial
34	chr16:74702000-74725400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr16:74702000-74729600	Weak transcription	Brain Anterior Caudate	brain
36	chr16:74702000-74730000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr16:74702200-74708600	Weak transcription	GM12878-XiMat	blood
38	chr16:74702400-74708600	Weak transcription	HepG2	liver
39	chr16:74705000-74725000	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr16:74705200-74710800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr16:74705200-74713600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr16:74705200-74717200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr16:74705200-74718000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr16:74705400-74707000	Strong transcription	A549	lung
45	chr16:74705400-74709400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr16:74705400-74710800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr16:74705400-74713400	Strong transcription	Hela-S3	cervix
48	chr16:74705400-74714400	Strong transcription	Primary hematopoietic stem cells	blood
49	chr16:74705400-74714800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr16:74705400-74717000	Strong transcription	Primary T cells from cord blood	blood

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