Variant report

Variant	rs8048596
Chromosome Location	chr16:74622887-74622888
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:74622797..74625662-chr16:74635267..74638190,2	K562	blood:

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

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

rs_ID	r²[population]
rs10400930	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1138860	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12921903	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12935075	0.83[ASN][1000 genomes]
rs13339156	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28377859	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28502731	0.93[ASN][1000 genomes]
rs28683674	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3923201	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4243108	0.83[ASN][1000 genomes]
rs4271617	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4286131	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4287593	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4302071	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4316784	0.85[ASN][1000 genomes]
rs4344772	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4438331	0.85[ASN][1000 genomes]
rs4462623	0.83[ASN][1000 genomes]
rs4548905	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4564599	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4887776	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4887777	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4887779	0.93[ASN][1000 genomes]
rs4888256	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4888257	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4888258	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4888259	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4888260	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4888266	0.83[ASN][1000 genomes]
rs4888270	0.82[ASN][1000 genomes]
rs62053563	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6564141	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6564145	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6564146	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6564147	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6564148	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6564149	0.93[ASN][1000 genomes]
rs6564152	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6564153	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6564154	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6564155	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71392603	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7184754	0.88[ASN][1000 genomes]
rs7185026	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7185722	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7190631	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7191754	0.83[ASN][1000 genomes]
rs7193423	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7193508	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7193583	0.93[ASN][1000 genomes]
rs7193959	0.88[ASN][1000 genomes]
rs7194143	0.85[ASN][1000 genomes]
rs7194687	0.93[ASN][1000 genomes]
rs7195135	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7195499	0.83[ASN][1000 genomes]
rs7203452	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7204804	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7205258	0.90[ASN][1000 genomes]
rs7342732	0.82[ASN][1000 genomes]
rs8045848	0.83[ASN][1000 genomes]
rs8047243	0.94[ASN][1000 genomes]
rs8048133	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8048239	0.80[ASN][1000 genomes]
rs8049138	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8050615	0.89[ASN][1000 genomes]
rs8050624	0.86[ASN][1000 genomes]
rs8050668	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8050850	0.81[ASN][1000 genomes]
rs8052923	0.84[ASN][1000 genomes]
rs8053084	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8054836	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8055784	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8055803	0.94[ASN][1000 genomes]
rs8056718	0.92[ASN][1000 genomes]
rs8056788	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8057279	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8058034	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8058437	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8058692	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8058922	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8061156	0.80[AMR][1000 genomes]
rs8062404	0.92[ASN][1000 genomes]
rs8062959	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9921672	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9923644	0.80[ASN][1000 genomes]
rs9924716	0.82[ASN][1000 genomes]
rs9927073	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9928181	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9929483	0.81[ASN][1000 genomes]
rs9930003	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9932735	0.82[AMR][1000 genomes]
rs9932831	0.85[ASN][1000 genomes]
rs9938833	0.85[EUR][1000 genomes];0.85[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	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	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
3	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
4	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
5	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
6	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
7	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
8	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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8048596	MLKL	Cis_1M	lymphoblastoid	RTeQTL
rs8048596	RFWD3	Cis_1M	lymphoblastoid	RTeQTL
rs8048596	RFWD3	cis	Esophagus Mucosa	GTEx

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74588200-74623200	Weak transcription	Primary B cells from cord blood	blood
2	chr16:74589800-74626800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr16:74591000-74624000	Weak transcription	Aorta	Aorta
4	chr16:74599600-74623400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr16:74605200-74630600	Weak transcription	Fetal Lung	lung
6	chr16:74605200-74639800	Weak transcription	Esophagus	oesophagus
7	chr16:74605600-74630200	Weak transcription	Fetal Intestine Large	intestine
8	chr16:74606800-74628000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr16:74606800-74636800	Weak transcription	Lung	lung
10	chr16:74608400-74638200	Weak transcription	Fetal Brain Female	brain
11	chr16:74610000-74628000	Weak transcription	Left Ventricle	heart
12	chr16:74610200-74630400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr16:74612000-74638600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr16:74612400-74626000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr16:74612600-74630200	Weak transcription	NHLF	lung
16	chr16:74613000-74628400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr16:74613200-74628200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr16:74613200-74628400	Weak transcription	NHEK	skin
19	chr16:74614400-74628400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr16:74615000-74630400	Weak transcription	Thymus	Thymus
21	chr16:74615000-74636800	Weak transcription	Psoas Muscle	Psoas
22	chr16:74615200-74628000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr16:74615200-74628400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr16:74615400-74635000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr16:74615400-74637800	Weak transcription	HSMM	muscle
26	chr16:74615600-74623400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr16:74615600-74630600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr16:74615600-74634000	Weak transcription	Fetal Thymus	thymus
29	chr16:74615800-74637800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr16:74616000-74623200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr16:74617000-74623800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr16:74617000-74623800	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr16:74617400-74626400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr16:74617400-74630400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr16:74617400-74634600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr16:74617600-74631800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr16:74617800-74628200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr16:74618000-74638400	Weak transcription	Brain Substantia Nigra	brain
39	chr16:74618200-74623200	Weak transcription	Osteobl	bone
40	chr16:74618200-74623400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr16:74618200-74626600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr16:74618200-74626800	Weak transcription	Right Atrium	heart
43	chr16:74618200-74628000	Weak transcription	Hela-S3	cervix
44	chr16:74618200-74630200	Weak transcription	Fetal Muscle Leg	muscle
45	chr16:74618200-74630600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr16:74618400-74623400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr16:74618400-74625600	Weak transcription	Fetal Kidney	kidney
48	chr16:74618400-74628000	Weak transcription	HUVEC	blood vessel
49	chr16:74618600-74625800	Weak transcription	Brain Hippocampus Middle	brain
50	chr16:74618600-74626000	Weak transcription	Brain Anterior Caudate	brain

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