Variant report

Variant	rs8056788
Chromosome Location	chr16:74624245-74624246
allele	A/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: 81 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10400930	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12445991	0.91[CEU][hapmap]
rs12446054	0.83[CEU][hapmap];0.81[MEX][hapmap]
rs12448026	0.92[ASW][hapmap];0.96[CEU][hapmap];0.85[MEX][hapmap]
rs12921903	0.81[ASN][1000 genomes]
rs13339156	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1820262	0.91[CEU][hapmap]
rs2098754	0.92[ASW][hapmap]
rs2288053	0.87[CEU][hapmap];0.81[MEX][hapmap]
rs28377859	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28502731	0.82[ASN][1000 genomes]
rs28683674	0.81[AMR][1000 genomes]
rs3923201	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4243108	0.84[ASW][hapmap];0.85[MEX][hapmap]
rs4302071	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4344772	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4548905	0.80[ASN][1000 genomes]
rs4887776	1.00[ASW][hapmap];0.85[MEX][hapmap];0.80[ASN][1000 genomes]
rs4887777	1.00[ASW][hapmap];0.85[MEX][hapmap];0.80[ASN][1000 genomes]
rs4887779	1.00[ASW][hapmap];0.85[MEX][hapmap];0.80[ASN][1000 genomes]
rs4888240	0.87[CEU][hapmap];0.81[MEX][hapmap]
rs4888256	0.92[ASW][hapmap];0.96[CEU][hapmap];0.80[MEX][hapmap];0.86[AMR][1000 genomes]
rs4888257	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4888258	0.80[ASN][1000 genomes]
rs4888259	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4888260	0.86[AMR][1000 genomes]
rs62053563	0.84[AMR][1000 genomes]
rs6564141	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6564145	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6564146	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6564147	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6564148	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6564149	0.80[ASN][1000 genomes]
rs6564152	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6564153	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6564154	0.84[ASW][hapmap];0.91[CEU][hapmap];0.95[MEX][hapmap];0.80[EUR][1000 genomes]
rs7185026	0.92[ASW][hapmap];0.96[CEU][hapmap];0.80[MEX][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7185722	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7193423	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7193508	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7193583	0.80[ASN][1000 genomes]
rs7194687	0.80[ASN][1000 genomes]
rs7195135	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7203452	0.92[ASW][hapmap];0.96[CEU][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7204382	0.84[ASW][hapmap];0.96[CEU][hapmap];1.00[MEX][hapmap]
rs7204804	0.84[ASW][hapmap];0.87[CEU][hapmap];0.95[MEX][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7205258	1.00[ASW][hapmap];0.85[MEX][hapmap]
rs7342732	0.84[ASW][hapmap];0.85[MEX][hapmap]
rs8047243	0.81[ASN][1000 genomes]
rs8048133	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8048596	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8049138	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8050615	0.85[ASN][1000 genomes]
rs8050624	0.84[ASW][hapmap];0.85[MEX][hapmap]
rs8050668	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8053084	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8054836	0.85[AMR][1000 genomes]
rs8055784	0.84[ASW][hapmap];0.91[CEU][hapmap];0.95[MEX][hapmap];0.81[AMR][1000 genomes]
rs8055803	0.81[ASN][1000 genomes]
rs8057279	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs8058034	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8058437	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8058692	0.92[ASW][hapmap];0.96[CEU][hapmap];0.86[LWK][hapmap];0.80[MEX][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs8058922	0.84[ASW][hapmap];0.91[CEU][hapmap];0.95[MEX][hapmap]
rs8059869	0.87[CEU][hapmap]
rs8061156	0.82[AMR][1000 genomes]
rs8062959	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs918782	0.85[ASW][hapmap];0.96[CEU][hapmap];0.81[MEX][hapmap]
rs9927073	1.00[ASW][hapmap];0.91[CEU][hapmap];0.86[LWK][hapmap];0.95[MEX][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9928181	0.80[ASN][1000 genomes]
rs9929483	0.84[ASW][hapmap];0.83[CEU][hapmap];0.95[MEX][hapmap]
rs9930003	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9938833	0.84[ASW][hapmap];0.87[CEU][hapmap];0.95[MEX][hapmap]

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
rs8056788	RFWD3	Cis_1M	lymphoblastoid	RTeQTL
rs8056788	MLKL	Cis_1M	lymphoblastoid	RTeQTL
rs8056788	RFWD3	cis	Esophagus Mucosa	GTEx

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74589800-74626800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr16:74605200-74630600	Weak transcription	Fetal Lung	lung
3	chr16:74605200-74639800	Weak transcription	Esophagus	oesophagus
4	chr16:74605600-74630200	Weak transcription	Fetal Intestine Large	intestine
5	chr16:74606800-74628000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:74606800-74636800	Weak transcription	Lung	lung
7	chr16:74608400-74638200	Weak transcription	Fetal Brain Female	brain
8	chr16:74610000-74628000	Weak transcription	Left Ventricle	heart
9	chr16:74610200-74630400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr16:74612000-74638600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr16:74612400-74626000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr16:74612600-74630200	Weak transcription	NHLF	lung
13	chr16:74613000-74628400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr16:74613200-74628200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr16:74613200-74628400	Weak transcription	NHEK	skin
16	chr16:74614400-74628400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr16:74615000-74630400	Weak transcription	Thymus	Thymus
18	chr16:74615000-74636800	Weak transcription	Psoas Muscle	Psoas
19	chr16:74615200-74628000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr16:74615200-74628400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr16:74615400-74635000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr16:74615400-74637800	Weak transcription	HSMM	muscle
23	chr16:74615600-74630600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr16:74615600-74634000	Weak transcription	Fetal Thymus	thymus
25	chr16:74615800-74637800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr16:74617400-74626400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr16:74617400-74630400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr16:74617400-74634600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr16:74617600-74631800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr16:74617800-74628200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr16:74618000-74638400	Weak transcription	Brain Substantia Nigra	brain
32	chr16:74618200-74626600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr16:74618200-74626800	Weak transcription	Right Atrium	heart
34	chr16:74618200-74628000	Weak transcription	Hela-S3	cervix
35	chr16:74618200-74630200	Weak transcription	Fetal Muscle Leg	muscle
36	chr16:74618200-74630600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr16:74618400-74625600	Weak transcription	Fetal Kidney	kidney
38	chr16:74618400-74628000	Weak transcription	HUVEC	blood vessel
39	chr16:74618600-74625800	Weak transcription	Brain Hippocampus Middle	brain
40	chr16:74618600-74626000	Weak transcription	Brain Anterior Caudate	brain
41	chr16:74618600-74626000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr16:74618600-74628000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr16:74618600-74628000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr16:74618600-74628000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr16:74618600-74628200	Weak transcription	A549	lung
46	chr16:74618600-74628200	Weak transcription	NHDF-Ad	bronchial
47	chr16:74618600-74629000	Weak transcription	Ovary	ovary
48	chr16:74618600-74630200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr16:74618600-74630600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr16:74618600-74634200	Weak transcription	Dnd41	blood

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