Variant report

Variant	rs16970147
Chromosome Location	chr16:70425460-70425461
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70421641..70423299-chr16:70424521..70426257,2	MCF-7	breast:
2	chr16:70423133..70426937-chr16:70556089..70559667,6	MCF-7	breast:
3	chr16:70424714..70426419-chr16:70426549..70428122,2	MCF-7	breast:
4	chr16:70424580..70426531-chr16:70555920..70558757,3	MCF-7	breast:
5	chr16:70424803..70425564-chr16:70456219..70456844,2	MCF-7	breast:
6	chr16:70425120..70427352-chr16:70506388..70508836,2	K562	blood:
7	chr16:70425305..70429574-chr16:70469861..70473545,6	K562	blood:

Variant related genes	Relation type
ENSG00000189091	Chromatin interaction
ENSG00000157353	Chromatin interaction
ENSG00000157350	Chromatin interaction
ENSG00000103051	Chromatin interaction

Extended variants
information (count: 142 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs11537667	1.00[ASW][hapmap];0.90[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap]
rs11859191	1.00[EUR][1000 genomes]
rs11859827	0.85[AFR][1000 genomes]
rs11860870	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs11862053	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs11862150	1.00[EUR][1000 genomes]
rs11862188	1.00[EUR][1000 genomes]
rs11863943	0.91[ASW][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs11864179	1.00[EUR][1000 genomes]
rs11864326	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11865484	1.00[EUR][1000 genomes]
rs11865564	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11865783	0.80[YRI][hapmap]
rs11866378	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs16970121	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs16970133	1.00[MEX][hapmap]
rs16970141	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs16970149	0.82[YRI][hapmap]
rs16970151	0.91[ASW][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap]
rs16970152	0.91[ASW][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap]
rs16970153	0.82[YRI][hapmap]
rs16970159	0.91[ASW][hapmap];1.00[MEX][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs16970165	0.91[ASW][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap]
rs16970169	0.91[ASW][hapmap];1.00[MEX][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs16970302	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs16970361	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs16970609	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs17878609	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17878832	1.00[EUR][1000 genomes]
rs17880242	1.00[EUR][1000 genomes]
rs17880268	1.00[ASW][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17881069	1.00[EUR][1000 genomes]
rs17881219	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs17882471	1.00[MEX][hapmap];0.87[MKK][hapmap]
rs17883309	1.00[EUR][1000 genomes]
rs17886064	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3096368	1.00[EUR][1000 genomes]
rs35904382	1.00[EUR][1000 genomes]
rs4999488	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs55657328	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55769835	1.00[EUR][1000 genomes]
rs55775924	0.80[AFR][1000 genomes]
rs55805938	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55819743	1.00[EUR][1000 genomes]
rs55916527	0.80[AFR][1000 genomes]
rs55936739	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56043981	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56050266	1.00[EUR][1000 genomes]
rs56082018	1.00[EUR][1000 genomes]
rs56090000	0.85[AFR][1000 genomes]
rs56096542	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56217164	0.87[AFR][1000 genomes]
rs56234537	0.87[AFR][1000 genomes]
rs56980444	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57150196	0.81[AMR][1000 genomes]
rs57279408	0.87[AFR][1000 genomes]
rs57422630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57623576	0.87[AFR][1000 genomes]
rs58047061	1.00[EUR][1000 genomes]
rs58055772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58131227	1.00[EUR][1000 genomes]
rs58328210	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58467558	1.00[EUR][1000 genomes]
rs59260159	0.81[AMR][1000 genomes]
rs59384897	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59612351	1.00[EUR][1000 genomes]
rs59791510	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59928915	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs60426209	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60523557	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60646112	0.80[AFR][1000 genomes]
rs60815141	1.00[EUR][1000 genomes]
rs61172065	0.84[AFR][1000 genomes]
rs61266247	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs61319691	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61391917	0.87[AFR][1000 genomes]
rs61594809	0.83[AFR][1000 genomes]
rs6499312	1.00[EUR][1000 genomes]
rs6499313	1.00[EUR][1000 genomes]
rs6499314	1.00[ASW][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6499315	1.00[EUR][1000 genomes]
rs7184248	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7185665	0.83[AFR][1000 genomes]
rs7186024	0.83[AFR][1000 genomes]
rs7188864	1.00[EUR][1000 genomes]
rs7189535	1.00[MEX][hapmap]
rs7190536	1.00[EUR][1000 genomes]
rs7190921	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7192000	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs7195086	0.91[ASW][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs7195104	0.82[YRI][hapmap]
rs7195567	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs7196392	0.80[ASW][hapmap];1.00[MEX][hapmap]
rs7198871	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs7199145	1.00[MEX][hapmap];0.93[MKK][hapmap]
rs7199346	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7199655	1.00[EUR][1000 genomes]
rs7203761	1.00[MEX][hapmap]
rs7203772	1.00[MEX][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes]
rs7204793	0.80[YRI][hapmap]
rs7204800	0.85[AFR][1000 genomes]
rs7205871	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7205918	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs7205990	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7206347	0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024180	0.81[AFR][1000 genomes]
rs74024182	1.00[EUR][1000 genomes]
rs74024183	1.00[EUR][1000 genomes]
rs74024184	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74024185	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74024186	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74024187	0.83[AFR][1000 genomes]
rs74024188	1.00[EUR][1000 genomes]
rs74024191	0.83[AFR][1000 genomes]
rs74024193	0.86[AFR][1000 genomes]
rs74024196	0.87[AFR][1000 genomes]
rs74024199	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024200	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026022	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74026033	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74026049	1.00[EUR][1000 genomes]
rs8045571	0.82[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs8046253	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8046280	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8046662	0.82[ASW][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs8046786	1.00[EUR][1000 genomes]
rs8049046	0.90[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8049316	1.00[MEX][hapmap];0.93[MKK][hapmap]
rs8050252	0.81[AMR][1000 genomes]
rs8051869	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8053040	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8053657	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8053883	0.91[ASW][hapmap];1.00[MEX][hapmap];0.81[YRI][hapmap]
rs8054203	1.00[EUR][1000 genomes]
rs8055338	1.00[MEX][hapmap];0.93[MKK][hapmap]
rs8056811	1.00[MEX][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8058735	0.80[AFR][1000 genomes]
rs8062602	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8063749	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs8064090	1.00[EUR][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	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70415800-70427600	Weak transcription	Fetal Kidney	kidney
2	chr16:70415800-70442000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:70416000-70425800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr16:70416000-70425800	Weak transcription	Colon Smooth Muscle	Colon
5	chr16:70416000-70425800	Weak transcription	Osteobl	bone
6	chr16:70416000-70429200	Weak transcription	Colonic Mucosa	Colon
7	chr16:70416000-70429400	Weak transcription	Pancreas	Pancrea
8	chr16:70416000-70430000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr16:70416000-70432200	Weak transcription	Gastric	stomach
10	chr16:70416000-70433400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr16:70416000-70435000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr16:70416000-70435600	Strong transcription	Fetal Stomach	stomach
13	chr16:70416000-70437600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr16:70416000-70438000	Weak transcription	Small Intestine	intestine
15	chr16:70416000-70438000	Weak transcription	HUVEC	blood vessel
16	chr16:70416200-70425800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr16:70416200-70425800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr16:70416200-70427600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr16:70416200-70428600	Strong transcription	Fetal Intestine Small	intestine
20	chr16:70416200-70429200	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr16:70416200-70429200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr16:70416200-70432200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr16:70416200-70437000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr16:70416200-70437000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr16:70416400-70426200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr16:70416400-70434600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr16:70416600-70427200	Weak transcription	Fetal Brain Male	brain
28	chr16:70416600-70428800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr16:70416600-70431800	Weak transcription	Brain Angular Gyrus	brain
30	chr16:70417200-70425800	Weak transcription	HSMMtube	muscle
31	chr16:70417400-70427400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr16:70418000-70427400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr16:70418200-70427600	Weak transcription	Hela-S3	cervix
34	chr16:70419200-70425600	Strong transcription	Fetal Muscle Leg	muscle
35	chr16:70419600-70426000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr16:70420400-70429400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr16:70421000-70425600	Strong transcription	Fetal Muscle Trunk	muscle
38	chr16:70421800-70425800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr16:70422000-70429400	Strong transcription	K562	blood
40	chr16:70422400-70430400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr16:70422400-70431800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr16:70422400-70432200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr16:70422600-70425600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr16:70422600-70425800	Weak transcription	Primary B cells from cord blood	blood
45	chr16:70422600-70425800	Weak transcription	Brain Hippocampus Middle	brain
46	chr16:70422600-70425800	Weak transcription	NHLF	lung
47	chr16:70422600-70426200	Weak transcription	Brain Germinal Matrix	brain
48	chr16:70422600-70426400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr16:70422600-70426400	Weak transcription	Thymus	Thymus
50	chr16:70422600-70427200	Weak transcription	Primary monocytes fromperipheralblood	blood

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