Variant report

Variant	rs8052358
Chromosome Location	chr16:71899189-71899190
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71898928..71901891-chr16:71916242..71919220,3	MCF-7	breast:
2	chr16:71890168..71892729-chr16:71898012..71900184,2	K562	blood:
3	chr16:71896567..71899503-chr16:71901717..71904863,3	K562	blood:
4	chr16:71894255..71897877-chr16:71898217..71900097,3	K562	blood:
5	chr16:71898024..71900030-chr16:71913390..71914891,2	K562	blood:

Variant related genes	Relation type
ENSG00000102984	Chromatin interaction
ENSG00000182149	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10500567	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10852505	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs10852507	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11075906	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11075909	0.91[YRI][hapmap]
rs11075910	0.85[JPT][hapmap]
rs11639843	0.82[ASN][1000 genomes]
rs11640135	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11644740	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11648557	1.00[JPT][hapmap]
rs11861296	0.96[GIH][hapmap];0.82[JPT][hapmap]
rs11865456	0.87[ASW][hapmap];0.95[CEU][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12149307	0.95[CEU][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12149325	0.95[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12149460	0.82[JPT][hapmap]
rs12149917	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12445564	1.00[CEU][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12445641	0.95[CEU][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12448022	0.96[GIH][hapmap]
rs12448086	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12921279	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12921459	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12927691	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12928939	0.96[GIH][hapmap]
rs12934512	0.95[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13330178	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17357420	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17358402	0.94[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2288030	0.85[JPT][hapmap]
rs28667298	0.82[ASN][1000 genomes]
rs2878494	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3088285	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34029919	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34101687	0.82[ASN][1000 genomes]
rs34664834	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35028754	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35209006	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35404791	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35535529	0.88[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs35595148	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36182990	0.82[ASN][1000 genomes]
rs3751820	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4528577	1.00[CEU][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4788568	0.85[JPT][hapmap]
rs4788575	0.85[JPT][hapmap]
rs4788579	0.85[JPT][hapmap]
rs71384781	0.89[EUR][1000 genomes]
rs71384782	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71386939	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71386940	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71386942	0.82[ASN][1000 genomes]
rs7185027	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7187418	0.91[YRI][hapmap]
rs7188591	0.87[ASW][hapmap];1.00[CEU][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.92[MEX][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7191848	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7195988	0.95[CEU][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7197486	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7198645	1.00[CHB][hapmap]
rs7198834	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7200447	0.82[ASN][1000 genomes]
rs7202840	0.96[GIH][hapmap]
rs73586164	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8046044	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8049163	0.96[GIH][hapmap]
rs8049508	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8050058	0.87[ASW][hapmap];0.95[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs8053906	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8054602	0.91[YRI][hapmap]
rs8063657	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9939404	0.91[YRI][hapmap]
rs9939911	1.00[JPT][hapmap]
rs9940234	0.87[ASW][hapmap];0.95[CEU][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS 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	89 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8052358	TMEM208	cis	parietal	SCAN
rs8052358	PHLPP2	cis	cerebellum	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71881000-71902200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:71881200-71916600	Weak transcription	Small Intestine	intestine
3	chr16:71881800-71902000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr16:71881800-71904600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr16:71881800-71914400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr16:71881800-71914600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr16:71882000-71903800	Strong transcription	Brain Germinal Matrix	brain
8	chr16:71882000-71915600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:71882400-71902400	Strong transcription	Fetal Stomach	stomach
10	chr16:71882400-71914600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr16:71884600-71902000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr16:71885200-71912800	Weak transcription	NHDF-Ad	bronchial
13	chr16:71885600-71916600	Weak transcription	Stomach Mucosa	stomach
14	chr16:71886400-71904200	Strong transcription	Fetal Muscle Trunk	muscle
15	chr16:71886400-71904600	Strong transcription	Fetal Brain Female	brain
16	chr16:71888000-71914800	Weak transcription	HUVEC	blood vessel
17	chr16:71888000-71916400	Weak transcription	NHEK	skin
18	chr16:71888200-71910600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr16:71888400-71903000	Weak transcription	K562	blood
20	chr16:71888600-71903800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr16:71889200-71904000	Strong transcription	Primary T cells from cord blood	blood
22	chr16:71889600-71900200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr16:71890000-71899200	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr16:71890200-71913000	Weak transcription	Osteobl	bone
25	chr16:71890600-71899600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr16:71891000-71914000	Strong transcription	Primary B cells from peripheral blood	blood
27	chr16:71891400-71899800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr16:71891400-71905400	Strong transcription	Fetal Lung	lung
29	chr16:71891400-71906600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr16:71892000-71902000	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr16:71892000-71903400	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr16:71892200-71900400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr16:71892200-71901000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr16:71892400-71901800	Strong transcription	Fetal Muscle Leg	muscle
35	chr16:71892600-71901800	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr16:71892600-71904400	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr16:71892800-71899400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr16:71892800-71899400	Strong transcription	Placenta	Placenta
39	chr16:71892800-71899600	Strong transcription	Brain Hippocampus Middle	brain
40	chr16:71892800-71899600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr16:71892800-71901000	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr16:71892800-71901200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr16:71892800-71902200	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr16:71892800-71902600	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr16:71893000-71899600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr16:71893000-71899800	Strong transcription	Brain Substantia Nigra	brain
47	chr16:71893000-71900400	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr16:71893000-71901000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr16:71893000-71901000	Strong transcription	Brain Cingulate Gyrus	brain
50	chr16:71893000-71905200	Strong transcription	Brain Anterior Caudate	brain

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