Variant report

Variant	rs17879275
Chromosome Location	chr16:70494881-70494882
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70407277..70408933-chr16:70493231..70495760,2	MCF-7	breast:
2	chr16:70409390..70411008-chr16:70493324..70495460,2	MCF-7	breast:
3	chr16:70485245..70488072-chr16:70494392..70496535,2	K562	blood:
4	chr16:70488573..70491549-chr16:70492928..70496416,4	K562	blood:
5	chr16:70414009..70416973-chr16:70493742..70498097,6	MCF-7	breast:
6	chr16:70494008..70496807-chr2:138724427..138726798,2	MCF-7	breast:
7	chr16:70487407..70489518-chr16:70493476..70494999,2	MCF-7	breast:
8	chr16:70413317..70415893-chr16:70494753..70497211,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260111	Chromatin interaction
ENSG00000157353	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs11863394	1.00[EUR][1000 genomes]
rs13330945	1.00[EUR][1000 genomes]
rs13331220	1.00[AMR][1000 genomes]
rs13332431	1.00[TSI][hapmap]
rs13334577	0.91[AMR][1000 genomes]
rs13335135	1.00[TSI][hapmap]
rs13337689	1.00[EUR][1000 genomes]
rs13338441	1.00[EUR][1000 genomes]
rs13339216	1.00[AMR][1000 genomes]
rs13339561	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13339593	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13339643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970226	1.00[AMR][1000 genomes]
rs16970240	1.00[TSI][hapmap];1.00[AMR][1000 genomes]
rs16970243	1.00[AMR][1000 genomes]
rs16970253	1.00[TSI][hapmap];1.00[AMR][1000 genomes]
rs16970259	1.00[AMR][1000 genomes]
rs16970260	1.00[TSI][hapmap];1.00[AMR][1000 genomes]
rs17878662	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17881316	1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17885165	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17886111	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28419202	1.00[AMR][1000 genomes]
rs28438025	1.00[AMR][1000 genomes]
rs28475204	1.00[AMR][1000 genomes]
rs28619389	1.00[AMR][1000 genomes]
rs28777081	1.00[AMR][1000 genomes]
rs55667445	1.00[AMR][1000 genomes]
rs55885171	1.00[AMR][1000 genomes]
rs55926204	0.84[AMR][1000 genomes]
rs56189591	1.00[AMR][1000 genomes]
rs57451547	1.00[AMR][1000 genomes]
rs58142695	1.00[AMR][1000 genomes]
rs58144908	1.00[AMR][1000 genomes]
rs59158714	1.00[AMR][1000 genomes]
rs59460917	1.00[AMR][1000 genomes]
rs60575688	1.00[EUR][1000 genomes]
rs60757048	1.00[AMR][1000 genomes]
rs61641432	1.00[AMR][1000 genomes]
rs6499318	1.00[AMR][1000 genomes]
rs7184876	1.00[AMR][1000 genomes]
rs7185011	0.91[AMR][1000 genomes]
rs7186436	1.00[AMR][1000 genomes]
rs7188297	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7188474	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7188808	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7191191	1.00[AMR][1000 genomes]
rs7192936	1.00[EUR][1000 genomes]
rs7193228	1.00[TSI][hapmap];1.00[AMR][1000 genomes]
rs7196773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7199312	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7200586	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7200978	1.00[AMR][1000 genomes]
rs7202133	1.00[EUR][1000 genomes]
rs73573163	1.00[AMR][1000 genomes]
rs73573175	1.00[AMR][1000 genomes]
rs73578815	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73578819	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8047189	1.00[EUR][1000 genomes]
rs8047593	1.00[AMR][1000 genomes]
rs8049929	1.00[AMR][1000 genomes]
rs8050767	0.91[AMR][1000 genomes]
rs8051473	1.00[AMR][1000 genomes]
rs8051618	1.00[AMR][1000 genomes]
rs8057327	1.00[TSI][hapmap];1.00[AMR][1000 genomes]
rs8057732	1.00[TSI][hapmap];1.00[AMR][1000 genomes]
rs8058754	1.00[TSI][hapmap];1.00[AMR][1000 genomes]
rs8059200	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8061243	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8061431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8062414	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8062794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9302615	1.00[AMR][1000 genomes]
rs9921410	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9921696	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9922969	1.00[EUR][1000 genomes]
rs9923656	1.00[EUR][1000 genomes]
rs9925510	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9926355	1.00[AMR][1000 genomes]
rs9926435	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9928617	1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9928808	1.00[AMR][1000 genomes]
rs9929182	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9929354	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9929882	1.00[AMR][1000 genomes]
rs9932065	1.00[AMR][1000 genomes]
rs9932939	1.00[AMR][1000 genomes]
rs9933022	1.00[AMR][1000 genomes]
rs9933510	1.00[EUR][1000 genomes]
rs9936085	1.00[AMR][1000 genomes]
rs9937769	1.00[AMR][1000 genomes]
rs9940353	1.00[TSI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9940592	1.00[EUR][1000 genomes]
rs9940654	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	esv1815154	chr16:70467819-70515355	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70489200-70497200	Weak transcription	Aorta	Aorta
2	chr16:70489200-70506000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr16:70489200-70508800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr16:70489400-70495000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr16:70489400-70495000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr16:70489400-70495000	Weak transcription	Left Ventricle	heart
7	chr16:70489400-70495400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr16:70489400-70495800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr16:70489400-70497000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr16:70489400-70497000	Weak transcription	Brain Anterior Caudate	brain
11	chr16:70489400-70497000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr16:70489400-70497000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr16:70489400-70497000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr16:70489400-70497000	Weak transcription	Thymus	Thymus
15	chr16:70489400-70497000	Weak transcription	NHLF	lung
16	chr16:70489400-70497200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr16:70489400-70497200	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr16:70489400-70497200	Weak transcription	Primary B cells from cord blood	blood
19	chr16:70489400-70497200	Weak transcription	Brain Angular Gyrus	brain
20	chr16:70489400-70497200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr16:70489400-70497200	Weak transcription	Brain Hippocampus Middle	brain
22	chr16:70489400-70497200	Weak transcription	Colonic Mucosa	Colon
23	chr16:70489400-70497200	Weak transcription	Colon Smooth Muscle	Colon
24	chr16:70489400-70497200	Weak transcription	Gastric	stomach
25	chr16:70489400-70497200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr16:70489400-70497200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr16:70489400-70497400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr16:70489400-70497400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr16:70489400-70497400	Weak transcription	Ovary	ovary
30	chr16:70489400-70497600	Weak transcription	Esophagus	oesophagus
31	chr16:70489400-70497800	Weak transcription	Fetal Kidney	kidney
32	chr16:70489400-70500600	Weak transcription	Brain Germinal Matrix	brain
33	chr16:70489400-70500600	Weak transcription	Fetal Lung	lung
34	chr16:70489400-70504600	Weak transcription	A549	lung
35	chr16:70489400-70508800	Weak transcription	HMEC	breast
36	chr16:70489400-70509000	Weak transcription	NHEK	skin
37	chr16:70489400-70509400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr16:70489400-70510600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr16:70489400-70511800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr16:70489400-70512000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr16:70489400-70513000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr16:70489400-70513400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr16:70489400-70513800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr16:70489400-70513800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr16:70489400-70514200	Weak transcription	Small Intestine	intestine
46	chr16:70489400-70556400	Weak transcription	Stomach Mucosa	stomach
47	chr16:70489600-70497200	Weak transcription	Primary B cells from peripheral blood	blood
48	chr16:70489600-70497200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr16:70489600-70497200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr16:70490000-70496800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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