Variant report

Variant	rs8058133
Chromosome Location	chr16:74657485-74657486
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:74343741..74344475-chr16:74657118..74657649,2	MCF-7	breast:
2	chr16:74330188..74332288-chr16:74655953..74658208,2	MCF-7	breast:
3	chr16:74649316..74653490-chr16:74654574..74658436,6	MCF-7	breast:
4	chr16:74639257..74644662-chr16:74649340..74660012,16	MCF-7	breast:
5	chr16:74656365..74659328-chr16:74659841..74662459,3	K562	blood:
6	chr16:74486758..74487290-chr16:74656908..74657803,2	MCF-7	breast:
7	chr16:74343323..74344029-chr16:74656867..74657812,2	MCF-7	breast:
8	chr16:70185026..70185664-chr16:74657267..74657783,2	MCF-7	breast:
9	chr16:74606439..74608436-chr16:74656696..74658823,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000259972	Chromatin interaction
ENSG00000103035	Chromatin interaction
ENSG00000090863	Chromatin interaction
ENSG00000261404	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1019572	0.86[JPT][hapmap]
rs1019573	0.86[JPT][hapmap]
rs10500587	0.86[JPT][hapmap]
rs11149722	0.92[JPT][hapmap]
rs11639812	0.92[JPT][hapmap]
rs11644298	0.92[JPT][hapmap]
rs11648868	0.92[JPT][hapmap]
rs12325017	0.92[JPT][hapmap]
rs12446054	0.92[JPT][hapmap]
rs12448026	0.85[JPT][hapmap]
rs12598701	0.86[JPT][hapmap]
rs12716769	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13339161	0.92[JPT][hapmap]
rs13359	0.92[JPT][hapmap]
rs1469140	0.92[JPT][hapmap]
rs2098754	0.92[JPT][hapmap]
rs2288053	0.92[JPT][hapmap]
rs2303275	0.92[JPT][hapmap]
rs2303278	0.86[JPT][hapmap]
rs2303281	0.92[JPT][hapmap]
rs28681530	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3785312	0.86[JPT][hapmap]
rs3826239	0.92[JPT][hapmap]
rs3851729	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs4072222	0.85[JPT][hapmap];0.83[YRI][hapmap]
rs4438331	0.85[JPT][hapmap]
rs4887772	0.92[JPT][hapmap]
rs4887776	0.85[JPT][hapmap]
rs4887777	0.85[JPT][hapmap]
rs4887779	0.85[JPT][hapmap]
rs4888238	0.92[JPT][hapmap]
rs4888240	0.85[JPT][hapmap]
rs4888242	0.92[JPT][hapmap]
rs4888253	0.92[JPT][hapmap]
rs4888262	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4888264	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4888265	0.88[CEU][hapmap];0.87[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4888267	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4888274	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs56099065	0.81[AMR][1000 genomes]
rs57488599	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6564117	0.92[JPT][hapmap]
rs6564154	0.85[JPT][hapmap]
rs71376290	0.80[ASN][1000 genomes]
rs7185026	0.92[JPT][hapmap]
rs7188581	0.80[ASN][1000 genomes]
rs7188880	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7189123	0.92[JPT][hapmap]
rs7191665	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7194143	0.85[JPT][hapmap]
rs7201320	0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7204804	0.85[JPT][hapmap]
rs7205258	0.85[JPT][hapmap]
rs7342732	0.85[JPT][hapmap]
rs7978	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs8050624	0.85[JPT][hapmap]
rs8052367	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8055784	0.85[JPT][hapmap]
rs8058692	0.85[JPT][hapmap]
rs8059780	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8059869	0.85[JPT][hapmap]
rs8061942	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8062783	0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs918782	0.92[JPT][hapmap]
rs9922988	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9923145	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9923616	0.86[JPT][hapmap]
rs9927073	0.85[JPT][hapmap]
rs9929483	0.85[JPT][hapmap]
rs9929496	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9929931	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9930188	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9931225	0.88[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9932831	0.85[JPT][hapmap]
rs9938833	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
9	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8058133	RFWD3	Cis_1M	lymphoblastoid	RTeQTL
rs8058133	MLKL	Cis_1M	lymphoblastoid	RTeQTL
rs8058133	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	chr16:74641600-74657800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:74642000-74657600	Weak transcription	Brain Hippocampus Middle	brain
3	chr16:74642000-74658200	Weak transcription	Right Ventricle	heart
4	chr16:74642200-74688800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr16:74647600-74657600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr16:74647800-74691800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr16:74648800-74688400	Strong transcription	Dnd41	blood
8	chr16:74648800-74692200	Strong transcription	Fetal Thymus	thymus
9	chr16:74650800-74687400	Strong transcription	Thymus	Thymus
10	chr16:74651000-74691200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr16:74652000-74664200	Weak transcription	Fetal Heart	heart
12	chr16:74652000-74674600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr16:74652000-74686000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr16:74652000-74692200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr16:74652200-74685600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr16:74652200-74687400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr16:74652200-74699000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr16:74652400-74659400	Weak transcription	Small Intestine	intestine
19	chr16:74653000-74686800	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr16:74653000-74687800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr16:74653200-74669600	Strong transcription	Fetal Intestine Large	intestine
22	chr16:74653200-74683000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr16:74653200-74685600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr16:74653200-74687200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr16:74653200-74687800	Strong transcription	Fetal Stomach	stomach
26	chr16:74653200-74690600	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr16:74653200-74698800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr16:74653400-74660800	Strong transcription	Osteobl	bone
29	chr16:74653400-74661400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr16:74653400-74670600	Strong transcription	A549	lung
31	chr16:74653400-74672000	Strong transcription	Fetal Muscle Leg	muscle
32	chr16:74653400-74699000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr16:74653600-74657600	Weak transcription	Fetal Brain Male	brain
34	chr16:74653600-74657800	Weak transcription	Colonic Mucosa	Colon
35	chr16:74653600-74660200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr16:74653600-74660200	Strong transcription	GM12878-XiMat	blood
37	chr16:74653600-74661000	Strong transcription	Adipose Nuclei	Adipose
38	chr16:74653600-74669400	Strong transcription	HepG2	liver
39	chr16:74653600-74677800	Weak transcription	Psoas Muscle	Psoas
40	chr16:74653800-74668800	Strong transcription	Spleen	Spleen
41	chr16:74654000-74685800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr16:74654200-74669400	Strong transcription	Fetal Intestine Small	intestine
43	chr16:74654400-74658800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr16:74654400-74670600	Strong transcription	HMEC	breast
45	chr16:74654400-74689000	Strong transcription	Duodenum Mucosa	Duodenum
46	chr16:74654600-74673400	Strong transcription	Primary B cells from peripheral blood	blood
47	chr16:74654600-74686000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr16:74654600-74687800	Strong transcription	Fetal Muscle Trunk	muscle
49	chr16:74654800-74672200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr16:74655000-74667000	Strong transcription	K562	blood

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