Variant report

Variant	rs8056718
Chromosome Location	chr16:74612030-74612031
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:74608981..74612063-chr16:74638488..74641514,3	K562	blood:
2	chr16:74610563..74612731-chr16:74638844..74641446,2	K562	blood:
3	chr16:74607928..74610928-chr16:74610933..74614121,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000090863	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10400930	0.92[ASN][1000 genomes]
rs1138860	0.86[ASN][1000 genomes]
rs12445991	0.81[ASN][1000 genomes]
rs12448026	0.80[ASN][1000 genomes]
rs12921903	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12935075	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13339156	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28377859	0.93[ASN][1000 genomes]
rs28502731	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28683674	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3923201	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4072222	0.82[ASN][1000 genomes]
rs4072450	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4243108	0.87[ASN][1000 genomes]
rs4271617	0.90[ASN][1000 genomes]
rs4286131	0.90[ASN][1000 genomes]
rs4287593	0.90[ASN][1000 genomes]
rs4302071	0.92[ASN][1000 genomes]
rs4316784	0.84[ASN][1000 genomes]
rs4344772	0.89[ASN][1000 genomes]
rs4438331	0.82[ASN][1000 genomes]
rs4462623	0.87[ASN][1000 genomes]
rs4544266	0.82[ASN][1000 genomes]
rs4548905	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4564599	0.94[ASN][1000 genomes]
rs4600490	0.83[ASN][1000 genomes]
rs4887776	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4887777	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4887779	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4888253	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4888255	0.81[ASN][1000 genomes]
rs4888256	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4888257	0.89[ASN][1000 genomes]
rs4888258	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4888259	0.90[ASN][1000 genomes]
rs4888266	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4888270	0.86[ASN][1000 genomes]
rs57488599	0.82[ASN][1000 genomes]
rs58136167	0.84[ASN][1000 genomes]
rs62054177	0.82[ASN][1000 genomes]
rs6564141	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6564142	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6564145	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6564146	0.94[ASN][1000 genomes]
rs6564147	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6564148	0.90[ASN][1000 genomes]
rs6564149	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6564152	0.95[ASN][1000 genomes]
rs6564153	0.95[ASN][1000 genomes]
rs6564154	0.90[ASN][1000 genomes]
rs6564155	0.87[ASN][1000 genomes]
rs71392603	0.86[ASN][1000 genomes]
rs7184754	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7185026	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7185722	0.95[ASN][1000 genomes]
rs7190631	0.85[ASN][1000 genomes]
rs7191754	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7193423	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7193508	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7193583	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7193959	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7194143	0.84[ASN][1000 genomes]
rs7194687	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7195135	0.90[ASN][1000 genomes]
rs7195499	0.87[ASN][1000 genomes]
rs7196627	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7201105	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7203452	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7204804	0.95[ASN][1000 genomes]
rs7205258	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7205813	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7342732	0.86[ASN][1000 genomes]
rs7359390	0.82[ASN][1000 genomes]
rs8045848	0.87[ASN][1000 genomes]
rs8047243	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8047523	0.82[EUR][1000 genomes]
rs8048239	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8048596	0.92[ASN][1000 genomes]
rs8049056	0.84[ASN][1000 genomes]
rs8049138	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8050615	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8050624	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8050668	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8050850	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8051990	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8052923	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8053084	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8053369	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8055380	0.81[ASN][1000 genomes]
rs8055784	0.85[ASN][1000 genomes]
rs8055803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8057279	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8058034	0.92[ASN][1000 genomes]
rs8058256	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8058437	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8058692	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8058922	0.86[ASN][1000 genomes]
rs8061156	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8062404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8062959	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9888950	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9888968	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9888976	0.82[EUR][1000 genomes]
rs9921672	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9923644	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9924716	0.81[ASN][1000 genomes]
rs9925807	0.82[ASN][1000 genomes]
rs9927073	0.90[ASN][1000 genomes]
rs9928181	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9929483	0.82[ASN][1000 genomes]
rs9929933	0.83[ASN][1000 genomes]
rs9930003	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9931225	0.81[ASN][1000 genomes]
rs9932735	0.84[ASN][1000 genomes]
rs9932831	0.82[ASN][1000 genomes]
rs9938833	0.88[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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs8056718	RFWD3	cis	Esophagus Mucosa	GTEx
rs8056718	RFWD3	cis	Skin Sun Exposed Lower leg	GTEx
rs8056718	RFWD3	cis	Thyroid	GTEx
rs8056718	RFWD3	Cis_1M	lymphoblastoid	RTeQTL
rs8056718	MLKL	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74563200-74622400	Weak transcription	Fetal Stomach	stomach
2	chr16:74583000-74617200	Weak transcription	Fetal Muscle Leg	muscle
3	chr16:74587600-74612200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr16:74588200-74623200	Weak transcription	Primary B cells from cord blood	blood
5	chr16:74589800-74626800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr16:74590200-74614600	Weak transcription	Adipose Nuclei	Adipose
7	chr16:74591000-74624000	Weak transcription	Aorta	Aorta
8	chr16:74591800-74613600	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr16:74595000-74622600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr16:74596000-74614400	Weak transcription	Colon Smooth Muscle	Colon
11	chr16:74598600-74622600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:74599600-74623400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr16:74600200-74616800	Weak transcription	Fetal Kidney	kidney
14	chr16:74605000-74613000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr16:74605200-74612200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr16:74605200-74614000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr16:74605200-74614400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr16:74605200-74617000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr16:74605200-74617600	Weak transcription	Ovary	ovary
20	chr16:74605200-74630600	Weak transcription	Fetal Lung	lung
21	chr16:74605200-74639800	Weak transcription	Esophagus	oesophagus
22	chr16:74605400-74612800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr16:74605400-74614200	Weak transcription	Thymus	Thymus
24	chr16:74605600-74630200	Weak transcription	Fetal Intestine Large	intestine
25	chr16:74606400-74617000	Weak transcription	Gastric	stomach
26	chr16:74606800-74628000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr16:74606800-74636800	Weak transcription	Lung	lung
28	chr16:74607000-74622400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr16:74607400-74615000	Enhancers	Psoas Muscle	Psoas
30	chr16:74608000-74617600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr16:74608200-74612200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr16:74608400-74617000	Weak transcription	Fetal Intestine Small	intestine
33	chr16:74608400-74638200	Weak transcription	Fetal Brain Female	brain
34	chr16:74608600-74612200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr16:74608600-74612400	Weak transcription	HepG2	liver
36	chr16:74608600-74614000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr16:74609800-74613600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr16:74610000-74614400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr16:74610000-74617600	Weak transcription	Right Atrium	heart
40	chr16:74610000-74617600	Weak transcription	Small Intestine	intestine
41	chr16:74610000-74628000	Weak transcription	Left Ventricle	heart
42	chr16:74610200-74613400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr16:74610200-74630400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr16:74610400-74612200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr16:74610400-74612200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr16:74610600-74612200	Enhancers	Primary T cells fromperipheralblood	blood
47	chr16:74610600-74613400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr16:74610600-74614200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr16:74610600-74614800	Weak transcription	Fetal Heart	heart
50	chr16:74610600-74619000	Enhancers	Primary T helper cells fromperipheralblood	blood

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