Variant report

Variant	rs9940353
Chromosome Location	chr16:70527254-70527255
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70527042..70530041-chr16:70532167..70534758,2	K562	blood:
2	chr16:70412713..70416394-chr16:70524042..70528993,5	MCF-7	breast:
3	chr16:70520287..70522895-chr16:70527029..70528591,2	K562	blood:

Variant related genes	Relation type
ENSG00000260111	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs13331220	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13332431	1.00[TSI][hapmap]
rs13334577	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs13339216	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13339561	1.00[AMR][1000 genomes]
rs13339593	1.00[AMR][1000 genomes]
rs13339643	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970226	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970240	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970243	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970253	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970259	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970260	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17878662	1.00[AMR][1000 genomes]
rs17879275	1.00[TSI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17881316	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17885165	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17886111	1.00[AMR][1000 genomes]
rs28419202	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28438025	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28475204	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28619389	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28777081	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55667445	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55683684	1.00[ASN][1000 genomes]
rs55885171	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55926204	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs56189591	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57451547	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58142695	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58144908	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59158714	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59460917	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60757048	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61641432	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499318	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7184876	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7185011	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7186436	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7188297	1.00[AMR][1000 genomes]
rs7188474	1.00[AMR][1000 genomes]
rs7188808	1.00[AMR][1000 genomes]
rs7191191	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7193228	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7196773	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7199312	1.00[AMR][1000 genomes]
rs7200034	1.00[MEX][hapmap]
rs7200586	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7200978	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73573163	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73573175	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73578815	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73578819	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8047593	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8049929	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8050767	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs8051473	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8051618	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8057327	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8057732	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8057766	0.90[LWK][hapmap];1.00[MEX][hapmap]
rs8058754	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8059200	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8061243	1.00[AMR][1000 genomes]
rs8061431	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8062414	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs8062794	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9302615	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9921410	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9921696	0.87[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap]
rs9924352	1.00[MEX][hapmap]
rs9925510	0.90[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap]
rs9926355	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9926435	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9928617	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9928808	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9929182	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9929354	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9929882	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9932065	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9932939	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9933022	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9936085	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9937769	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9939252	0.86[AFR][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	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	esv2830027	chr16:70473934-70558039	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70489400-70556400	Weak transcription	Stomach Mucosa	stomach
2	chr16:70501200-70535800	Strong transcription	Fetal Intestine Small	intestine
3	chr16:70501400-70535200	Strong transcription	Fetal Intestine Large	intestine
4	chr16:70501400-70536400	Strong transcription	Fetal Stomach	stomach
5	chr16:70504200-70532000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr16:70504400-70535200	Strong transcription	Liver	Liver
7	chr16:70506400-70535200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr16:70506600-70535400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr16:70511000-70527400	Weak transcription	Psoas Muscle	Psoas
10	chr16:70511800-70535600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr16:70512000-70535400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr16:70512800-70533600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr16:70512800-70556400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr16:70513000-70528000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr16:70513000-70528600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr16:70513600-70527600	Weak transcription	Right Atrium	heart
17	chr16:70513800-70532200	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr16:70514400-70527800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr16:70516000-70530200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr16:70516800-70527400	Weak transcription	HMEC	breast
21	chr16:70516800-70529400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr16:70516800-70529400	Weak transcription	HUVEC	blood vessel
23	chr16:70517600-70527600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr16:70517600-70538800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr16:70518000-70545800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr16:70518200-70527400	Weak transcription	Right Ventricle	heart
27	chr16:70518400-70527400	Weak transcription	NHEK	skin
28	chr16:70519000-70527400	Weak transcription	NH-A	brain
29	chr16:70519000-70529400	Weak transcription	Fetal Kidney	kidney
30	chr16:70519800-70532200	Strong transcription	Primary T cells from cord blood	blood
31	chr16:70519800-70533400	Strong transcription	Duodenum Mucosa	Duodenum
32	chr16:70520600-70527400	Weak transcription	Colon Smooth Muscle	Colon
33	chr16:70522200-70532000	Strong transcription	Fetal Lung	lung
34	chr16:70522800-70531800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr16:70522800-70532200	Strong transcription	Stomach Smooth Muscle	stomach
36	chr16:70523200-70535200	Strong transcription	Brain Germinal Matrix	brain
37	chr16:70523200-70542400	Weak transcription	Hela-S3	cervix
38	chr16:70523400-70535200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr16:70523400-70535200	Strong transcription	Dnd41	blood
40	chr16:70523600-70529200	Strong transcription	GM12878-XiMat	blood
41	chr16:70524000-70532200	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr16:70524400-70527400	Weak transcription	Colonic Mucosa	Colon
43	chr16:70524400-70527600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr16:70524400-70529800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr16:70524400-70542400	Weak transcription	Fetal Brain Male	brain
46	chr16:70524600-70527400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr16:70524600-70527400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr16:70524600-70527400	Weak transcription	HSMM	muscle
49	chr16:70524600-70527600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr16:70524600-70527600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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