Variant report

Variant	rs8063219
Chromosome Location	chr16:69832912-69832913
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr16:69832225-69832958	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr16:69832322-69832923	A549	lung:	n/a	n/a

Variant related genes	Relation type
WWP2	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11075738	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075739	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11641899	0.89[ASN][1000 genomes]
rs11643817	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12447095	0.86[ASN][1000 genomes]
rs12447914	0.80[ASN][1000 genomes]
rs2173714	0.90[ASN][1000 genomes]
rs34378064	0.89[ASN][1000 genomes]
rs3790085	0.91[CHB][hapmap];0.93[CHD][hapmap];0.83[JPT][hapmap]
rs3790086	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs4275849	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4341733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4608327	0.92[YRI][hapmap]
rs4985374	0.80[ASN][1000 genomes]
rs4985418	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985445	0.88[ASN][1000 genomes]
rs4985446	0.89[ASN][1000 genomes]
rs60941540	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62051384	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62051387	0.87[ASN][1000 genomes]
rs62051389	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6499255	0.88[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs6499257	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6499260	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs68039170	0.80[ASN][1000 genomes]
rs7193221	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7194806	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7196917	0.88[CEU][hapmap]
rs7200005	0.88[CEU][hapmap];0.82[TSI][hapmap]
rs7202223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7206585	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8044920	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8052428	0.95[CEU][hapmap]
rs8057620	0.81[CHD][hapmap]
rs8059645	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9630631	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8063219	LOC440348	cis	multi-tissue	Pritchard

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69797600-69853400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr16:69806800-69833000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr16:69807200-69852400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:69807200-69852800	Weak transcription	Hela-S3	cervix
5	chr16:69807200-69854800	Weak transcription	Psoas Muscle	Psoas
6	chr16:69808000-69833200	Weak transcription	HSMM	muscle
7	chr16:69810000-69839800	Weak transcription	HUVEC	blood vessel
8	chr16:69810200-69833400	Weak transcription	Dnd41	blood
9	chr16:69815200-69833400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr16:69817800-69854600	Weak transcription	HMEC	breast
11	chr16:69820200-69845000	Weak transcription	K562	blood
12	chr16:69822200-69833000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr16:69822400-69833000	Weak transcription	HSMMtube	muscle
14	chr16:69822400-69854800	Weak transcription	Stomach Mucosa	stomach
15	chr16:69822600-69833000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr16:69822600-69833200	Weak transcription	Small Intestine	intestine
17	chr16:69823800-69874800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr16:69824000-69833000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr16:69824000-69833000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr16:69824000-69833200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr16:69824200-69833000	Weak transcription	Spleen	Spleen
22	chr16:69824200-69852400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr16:69824400-69833000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr16:69827000-69833400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr16:69827600-69833000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr16:69830000-69839000	Strong transcription	HepG2	liver
27	chr16:69830200-69856600	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr16:69830600-69833000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr16:69830600-69833000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr16:69830600-69833000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr16:69830600-69833200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr16:69830600-69833200	Weak transcription	Brain Germinal Matrix	brain
33	chr16:69830600-69833200	Weak transcription	Fetal Lung	lung
34	chr16:69830600-69833200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr16:69830600-69833800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr16:69830600-69838400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr16:69830600-69857600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr16:69830600-69864200	Weak transcription	Colon Smooth Muscle	Colon
39	chr16:69830600-69867000	Weak transcription	Right Ventricle	heart
40	chr16:69830800-69833000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr16:69830800-69833200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr16:69830800-69833200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr16:69831000-69833200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr16:69831000-69845000	Weak transcription	Fetal Brain Male	brain
45	chr16:69831000-69845600	Weak transcription	A549	lung
46	chr16:69831000-69852400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr16:69831000-69852400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr16:69831000-69854800	Weak transcription	Aorta	Aorta
49	chr16:69831000-69856400	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr16:69831200-69833000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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