Variant report

Variant	rs8053599
Chromosome Location	chr16:74518692-74518693
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:74518172..74521190-chr16:74639634..74642594,6	MCF-7	breast:
2	chr16:74514035..74516362-chr16:74518414..74521351,3	MCF-7	breast:
3	chr16:74516659..74519526-chr16:74639551..74642329,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000090863	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1019572	0.87[ASN][1000 genomes]
rs10500587	0.86[ASN][1000 genomes]
rs11639812	0.87[ASN][1000 genomes]
rs11640021	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11640632	0.82[ASN][1000 genomes]
rs11641958	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11643293	0.87[ASN][1000 genomes]
rs11644298	0.89[ASN][1000 genomes]
rs11648786	0.81[ASN][1000 genomes]
rs11648868	0.85[ASN][1000 genomes]
rs12325017	0.87[ASN][1000 genomes]
rs12446095	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12447531	0.89[ASN][1000 genomes]
rs12449071	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12449125	0.91[ASN][1000 genomes]
rs12598701	0.95[ASN][1000 genomes]
rs12716768	0.89[ASN][1000 genomes]
rs12927939	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12930645	0.89[ASN][1000 genomes]
rs13339161	0.95[ASN][1000 genomes]
rs13339456	0.90[ASN][1000 genomes]
rs13380609	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1469140	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17672539	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1985611	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2098754	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2303277	0.80[ASN][1000 genomes]
rs2303278	0.87[ASN][1000 genomes]
rs2303281	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2549559	0.86[ASN][1000 genomes]
rs2550816	0.84[ASN][1000 genomes]
rs28762730	0.92[ASN][1000 genomes]
rs3096409	0.83[ASN][1000 genomes]
rs35209570	0.81[ASN][1000 genomes]
rs3785312	0.87[ASN][1000 genomes]
rs3826239	0.87[ASN][1000 genomes]
rs3960602	0.81[ASN][1000 genomes]
rs3973385	0.84[ASN][1000 genomes]
rs4887772	0.95[ASN][1000 genomes]
rs4888242	0.86[ASN][1000 genomes]
rs6564117	0.86[ASN][1000 genomes]
rs7188050	0.87[ASN][1000 genomes]
rs7188197	0.86[ASN][1000 genomes]
rs7189123	0.90[ASN][1000 genomes]
rs7190577	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7195020	0.89[ASN][1000 genomes]
rs7195196	0.96[ASN][1000 genomes]
rs7195198	0.96[ASN][1000 genomes]
rs8045653	0.83[ASN][1000 genomes]
rs918782	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9923616	0.83[AMR][1000 genomes];0.95[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	nsv1066212	chr16:74068470-74527133	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv542954	chr16:74068470-74527133	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8053599	MLKL	Cis_1M	lymphoblastoid	RTeQTL
rs8053599	RFWD3	Cis_1M	lymphoblastoid	RTeQTL
rs8053599	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	chr16:74480400-74530800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr16:74480400-74530800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr16:74480400-74531800	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr16:74480600-74530600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr16:74480800-74530600	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr16:74480800-74530800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:74481200-74520000	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr16:74481200-74520200	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr16:74481800-74519800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr16:74483000-74530600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr16:74483000-74530800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr16:74483200-74520000	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr16:74483200-74520400	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr16:74483800-74530600	Strong transcription	Liver	Liver
15	chr16:74484400-74532200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr16:74485000-74530800	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr16:74485600-74542600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr16:74488600-74519800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:74488600-74520200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr16:74488800-74530600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr16:74489000-74520200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr16:74489200-74531000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr16:74497000-74519400	Weak transcription	Fetal Brain Male	brain
24	chr16:74498800-74544400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr16:74499200-74539200	Strong transcription	Primary B cells from peripheral blood	blood
26	chr16:74501400-74520000	Strong transcription	Primary T cells from cord blood	blood
27	chr16:74501400-74530800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr16:74501400-74531000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr16:74502000-74530600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr16:74503800-74537200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr16:74504000-74523600	Weak transcription	Small Intestine	intestine
32	chr16:74507000-74535400	Weak transcription	Psoas Muscle	Psoas
33	chr16:74508600-74544000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr16:74511400-74518800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr16:74511400-74524000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr16:74511600-74523400	Weak transcription	Gastric	stomach
37	chr16:74512400-74519000	Weak transcription	HSMM	muscle
38	chr16:74512400-74519000	Weak transcription	HUVEC	blood vessel
39	chr16:74512600-74519000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr16:74512600-74524600	Weak transcription	Brain Angular Gyrus	brain
41	chr16:74513400-74533800	Strong transcription	HepG2	liver
42	chr16:74513800-74523400	Weak transcription	Esophagus	oesophagus
43	chr16:74513800-74523600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr16:74513800-74524600	Weak transcription	Colonic Mucosa	Colon
45	chr16:74513800-74524800	Weak transcription	NHLF	lung
46	chr16:74514000-74523400	Weak transcription	Brain Hippocampus Middle	brain
47	chr16:74514200-74518800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr16:74514200-74529400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr16:74514400-74519000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr16:74514400-74521200	Weak transcription	Muscle Satellite Cultured Cells	--

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