Variant report

Variant	rs8046280
Chromosome Location	chr16:70361819-70361820
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:70359039..70360980-chr16:70361160..70362947,2	MCF-7	breast:

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs11537667	0.85[AFR][1000 genomes]
rs11859827	0.91[AFR][1000 genomes]
rs11860870	0.95[AFR][1000 genomes]
rs11862053	0.87[AFR][1000 genomes]
rs11862150	0.81[AFR][1000 genomes]
rs11862188	0.81[AFR][1000 genomes]
rs11864326	0.81[AMR][1000 genomes]
rs11865564	0.81[AMR][1000 genomes]
rs11866378	0.89[AFR][1000 genomes]
rs16970141	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs16970147	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970159	0.81[AMR][1000 genomes]
rs16970169	0.81[AMR][1000 genomes]
rs16970361	0.87[AFR][1000 genomes]
rs16970609	0.93[AFR][1000 genomes]
rs17878609	0.81[AMR][1000 genomes]
rs17880268	0.81[AMR][1000 genomes]
rs17886064	1.00[AMR][1000 genomes]
rs4999488	0.81[AMR][1000 genomes]
rs55657328	0.87[AFR][1000 genomes]
rs55805938	0.89[AFR][1000 genomes]
rs55819743	0.81[AFR][1000 genomes]
rs55936739	0.87[AFR][1000 genomes]
rs56043981	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56090000	0.91[AFR][1000 genomes]
rs56096542	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56217164	0.93[AFR][1000 genomes]
rs56234537	0.93[AFR][1000 genomes]
rs56980444	0.89[AMR][1000 genomes]
rs57150196	0.81[AMR][1000 genomes]
rs57279408	0.93[AFR][1000 genomes]
rs57422630	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57623576	0.93[AFR][1000 genomes]
rs58055772	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58131227	0.85[AFR][1000 genomes]
rs58319566	0.80[AFR][1000 genomes]
rs58328210	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59260159	0.81[AMR][1000 genomes]
rs59384897	0.89[AFR][1000 genomes]
rs59612351	0.82[AFR][1000 genomes]
rs59791510	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59849898	0.85[AFR][1000 genomes]
rs59928915	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs60103946	0.85[AFR][1000 genomes]
rs60426209	0.89[AFR][1000 genomes]
rs60523557	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61172065	0.90[AFR][1000 genomes]
rs61266247	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs61319691	0.81[AMR][1000 genomes]
rs61391917	0.93[AFR][1000 genomes]
rs61594809	0.89[AFR][1000 genomes]
rs6499309	0.85[AFR][1000 genomes]
rs6499314	0.81[AMR][1000 genomes]
rs7184248	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7185665	0.89[AFR][1000 genomes]
rs7186024	0.89[AFR][1000 genomes]
rs7190921	0.88[AFR][1000 genomes]
rs7195567	0.96[AFR][1000 genomes]
rs7199346	0.81[AMR][1000 genomes]
rs7203772	0.90[AMR][1000 genomes]
rs7204800	0.91[AFR][1000 genomes]
rs7205871	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7205990	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7206347	0.81[AMR][1000 genomes]
rs74024180	0.85[AFR][1000 genomes]
rs74024182	0.81[AFR][1000 genomes]
rs74024184	0.87[AFR][1000 genomes]
rs74024185	0.87[AFR][1000 genomes]
rs74024186	0.89[AFR][1000 genomes]
rs74024187	0.89[AFR][1000 genomes]
rs74024191	0.89[AFR][1000 genomes]
rs74024193	0.92[AFR][1000 genomes]
rs74024196	0.93[AFR][1000 genomes]
rs74024199	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024200	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026022	0.81[AMR][1000 genomes]
rs74026033	0.81[AMR][1000 genomes]
rs8045571	0.81[AFR][1000 genomes]
rs8046253	0.81[AMR][1000 genomes]
rs8046662	0.83[AFR][1000 genomes]
rs8049046	1.00[AMR][1000 genomes]
rs8050252	0.81[AMR][1000 genomes]
rs8051869	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8053040	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8053657	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8056811	0.81[AMR][1000 genomes]
rs8062602	0.81[AMR][1000 genomes]
rs8063749	0.89[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	nsv906871	chr16:70302333-70375873	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70333800-70367800	Weak transcription	Small Intestine	intestine
2	chr16:70334000-70368400	Weak transcription	Fetal Heart	heart
3	chr16:70334200-70379800	Weak transcription	Stomach Mucosa	stomach
4	chr16:70335800-70366400	Weak transcription	Psoas Muscle	Psoas
5	chr16:70335800-70374200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr16:70339000-70366400	Weak transcription	K562	blood
7	chr16:70339200-70367600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr16:70339400-70365000	Weak transcription	A549	lung
9	chr16:70339400-70367400	Weak transcription	HMEC	breast
10	chr16:70345600-70366600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr16:70346200-70367600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr16:70346200-70376000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:70346400-70369600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr16:70347400-70371000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr16:70348200-70367800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:70348200-70371000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr16:70348400-70371000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr16:70348800-70365200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr16:70348800-70370600	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr16:70348800-70371000	Strong transcription	Liver	Liver
21	chr16:70349200-70362400	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr16:70349400-70362200	Strong transcription	Adipose Nuclei	Adipose
23	chr16:70349400-70362400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr16:70349400-70369400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr16:70349400-70370600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr16:70349400-70371200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr16:70349400-70372000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr16:70349600-70379800	Weak transcription	Fetal Brain Male	brain
29	chr16:70349800-70367600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr16:70349800-70370400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr16:70349800-70372600	Strong transcription	Fetal Muscle Trunk	muscle
32	chr16:70349800-70373200	Strong transcription	Fetal Stomach	stomach
33	chr16:70349800-70374600	Strong transcription	Fetal Muscle Leg	muscle
34	chr16:70350200-70365800	Weak transcription	NHEK	skin
35	chr16:70350600-70369800	Strong transcription	Fetal Brain Female	brain
36	chr16:70351600-70363200	Weak transcription	Right Ventricle	heart
37	chr16:70351800-70363400	Weak transcription	Esophagus	oesophagus
38	chr16:70351800-70365000	Weak transcription	Fetal Kidney	kidney
39	chr16:70351800-70365800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr16:70351800-70367800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr16:70351800-70367800	Weak transcription	NH-A	brain
42	chr16:70352000-70363200	Weak transcription	Gastric	stomach
43	chr16:70352000-70366000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr16:70352800-70373000	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr16:70353800-70362000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr16:70354400-70363400	Weak transcription	Aorta	Aorta
47	chr16:70356200-70362000	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr16:70356600-70370600	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr16:70356800-70364200	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr16:70356800-70370200	Strong transcription	Placenta	Placenta

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