Variant report

Variant	rs4344772
Chromosome Location	chr16:74643514-74643515
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF274	chr16:74643189-74643621	GM08714	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:74641807..74643534-chr16:74646200..74648998,2	MCF-7	breast:

Variant related genes	Relation type
GLG1	TF binding region
ENSG00000270945	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10400930	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1138860	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12921903	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12935075	0.85[ASN][1000 genomes]
rs13339156	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28377859	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28502731	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28683674	0.86[EUR][1000 genomes]
rs3923201	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4072450	0.81[ASN][1000 genomes]
rs4243108	0.83[ASN][1000 genomes]
rs4271617	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4286131	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4287593	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4302071	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4316784	0.88[ASN][1000 genomes]
rs4438331	0.85[ASN][1000 genomes]
rs4462623	0.83[ASN][1000 genomes]
rs4548905	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4564599	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4887776	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4887777	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4887779	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4888256	0.82[EUR][1000 genomes]
rs4888257	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4888258	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4888259	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4888260	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4888266	0.85[ASN][1000 genomes]
rs4888270	0.82[ASN][1000 genomes]
rs62053563	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6564141	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6564145	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6564146	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6564147	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6564148	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6564149	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6564152	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6564153	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6564154	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6564155	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71392603	0.81[EUR][1000 genomes]
rs7184754	0.90[ASN][1000 genomes]
rs7185026	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7185722	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7190631	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7191754	0.81[ASN][1000 genomes]
rs7193423	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7193508	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7193583	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7193959	0.90[ASN][1000 genomes]
rs7194143	0.88[ASN][1000 genomes]
rs7194687	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7195135	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7195499	0.83[ASN][1000 genomes]
rs7196627	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7203452	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7204382	0.82[EUR][1000 genomes]
rs7204804	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7205258	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7342732	0.82[ASN][1000 genomes]
rs8045848	0.81[ASN][1000 genomes]
rs8047243	0.89[ASN][1000 genomes]
rs8048133	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8048596	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8049056	0.81[ASN][1000 genomes]
rs8049138	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs8050615	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8050624	0.88[ASN][1000 genomes]
rs8050668	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs8052923	0.86[ASN][1000 genomes]
rs8053084	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8054836	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8055784	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8055803	0.91[ASN][1000 genomes]
rs8056718	0.89[ASN][1000 genomes]
rs8056788	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8057279	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8058034	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8058437	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8058692	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs8058922	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8062404	0.89[ASN][1000 genomes]
rs8062959	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9921672	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9924716	0.84[ASN][1000 genomes]
rs9925807	0.81[ASN][1000 genomes]
rs9927073	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9928181	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9929483	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9930003	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs9932831	0.85[ASN][1000 genomes]
rs9938833	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	nsv974837	chr16:74642496-74646718	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4344772	RFWD3	cis	Esophagus Mucosa	GTEx
rs4344772	MLKL	Cis_1M	lymphoblastoid	RTeQTL
rs4344772	RFWD3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74641200-74653800	Weak transcription	Spleen	Spleen
2	chr16:74641400-74655800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr16:74641400-74656000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:74641600-74643800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr16:74641600-74644200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr16:74641600-74644200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr16:74641600-74644600	Enhancers	Primary T cells fromperipheralblood	blood
8	chr16:74641600-74644600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr16:74641600-74644800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr16:74641600-74651000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr16:74641600-74656000	Weak transcription	Aorta	Aorta
12	chr16:74641600-74657000	Weak transcription	Gastric	stomach
13	chr16:74641600-74657800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr16:74641800-74643600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr16:74641800-74643800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr16:74641800-74644000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr16:74641800-74644600	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr16:74641800-74644800	Enhancers	Primary T cells from cord blood	blood
19	chr16:74641800-74653600	Weak transcription	GM12878-XiMat	blood
20	chr16:74641800-74654600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr16:74641800-74655200	Weak transcription	Primary B cells from cord blood	blood
22	chr16:74641800-74655400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr16:74641800-74655400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr16:74641800-74655800	Weak transcription	NHEK	skin
25	chr16:74641800-74656200	Weak transcription	HUVEC	blood vessel
26	chr16:74641800-74656600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr16:74642000-74643600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr16:74642000-74643800	Enhancers	Dnd41	blood
29	chr16:74642000-74645600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr16:74642000-74647800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr16:74642000-74651000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr16:74642000-74652200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr16:74642000-74653200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr16:74642000-74654400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr16:74642000-74655200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr16:74642000-74655200	Weak transcription	Fetal Brain Female	brain
37	chr16:74642000-74655800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr16:74642000-74656000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr16:74642000-74656000	Weak transcription	Left Ventricle	heart
40	chr16:74642000-74656800	Weak transcription	Liver	Liver
41	chr16:74642000-74657600	Weak transcription	Brain Hippocampus Middle	brain
42	chr16:74642000-74658200	Weak transcription	Right Ventricle	heart
43	chr16:74642200-74645400	Weak transcription	NHLF	lung
44	chr16:74642200-74645800	Weak transcription	Osteobl	bone
45	chr16:74642200-74646400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr16:74642200-74647400	Weak transcription	Psoas Muscle	Psoas
47	chr16:74642200-74647600	Weak transcription	A549	lung
48	chr16:74642200-74648600	Weak transcription	Fetal Stomach	stomach
49	chr16:74642200-74648800	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr16:74642200-74652000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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