Variant report

Variant	rs2917665
Chromosome Location	chr16:69764227-69764228
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:69758127..69765240-chr16:69786072..69790209,13	K562	blood:
2	chr16:69762814..69765280-chr16:69787584..69790176,2	K562	blood:
3	chr16:69756715..69759145-chr16:69764152..69766520,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141101	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10517	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11075736	0.88[EUR][1000 genomes]
rs1139177	0.81[EUR][1000 genomes]
rs1142105	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12102305	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12921017	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13329844	0.90[ASN][1000 genomes]
rs13331055	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13331071	0.81[ASN][1000 genomes]
rs13331216	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13335149	0.84[ASN][1000 genomes]
rs13335664	0.85[ASN][1000 genomes]
rs13338560	0.84[AMR][1000 genomes]
rs16958965	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs16958997	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs16959059	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2304526	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs28392989	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2917667	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2917669	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2917672	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2917673	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2917674	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2917675	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2917676	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2917682	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2917683	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2965752	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3785075	0.85[ASN][1000 genomes]
rs3826154	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4247107	0.81[EUR][1000 genomes]
rs4247109	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61628167	0.81[ASN][1000 genomes]
rs6499246	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6499248	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6499249	0.81[EUR][1000 genomes]
rs689452	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs689456	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7200420	0.90[ASN][1000 genomes]
rs7204615	0.84[EUR][1000 genomes]
rs7359387	0.93[ASN][1000 genomes]
rs8057938	0.88[EUR][1000 genomes]
rs9888993	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9889219	0.85[ASN][1000 genomes]
rs9924264	0.82[ASN][1000 genomes]
rs9924271	0.80[ASN][1000 genomes]
rs9924953	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9927809	0.89[ASN][1000 genomes]
rs9934264	0.84[ASN][1000 genomes]
rs9934321	0.89[ASN][1000 genomes]
rs9934681	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9936464	0.83[ASN][1000 genomes]
rs9937018	0.90[ASN][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	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers 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	54 gene(s)	inside rSNPs	diseases
2	esv3396845	chr16:69721905-69770627	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv517207	chr16:69745145-69771914	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv524364	chr16:69745145-69803443	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69761000-69773200	Weak transcription	Brain Germinal Matrix	brain
2	chr16:69761000-69773400	Weak transcription	Fetal Lung	lung
3	chr16:69761200-69772600	Weak transcription	Fetal Stomach	stomach
4	chr16:69761200-69773000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr16:69761200-69773000	Weak transcription	Fetal Brain Female	brain
6	chr16:69761200-69773000	Weak transcription	Fetal Intestine Large	intestine
7	chr16:69761200-69773200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr16:69761200-69773200	Weak transcription	Pancreas	Pancrea
9	chr16:69761200-69775400	Weak transcription	Fetal Brain Male	brain
10	chr16:69761200-69776200	Weak transcription	Ovary	ovary
11	chr16:69761400-69766200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr16:69761400-69773000	Weak transcription	Fetal Intestine Small	intestine
13	chr16:69761400-69773200	Weak transcription	Primary B cells from cord blood	blood
14	chr16:69761400-69773800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:69761400-69773800	Weak transcription	Placenta	Placenta
16	chr16:69761400-69774200	Weak transcription	Esophagus	oesophagus
17	chr16:69761400-69774200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr16:69761600-69773000	Weak transcription	Primary T cells from cord blood	blood
19	chr16:69761600-69773000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr16:69761600-69773800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr16:69761600-69773800	Weak transcription	Primary B cells from peripheral blood	blood
22	chr16:69761600-69773800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr16:69761600-69774000	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr16:69761600-69774000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr16:69761600-69774000	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr16:69761600-69774200	Weak transcription	Colon Smooth Muscle	Colon
27	chr16:69761600-69774200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr16:69761800-69766200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr16:69761800-69770800	Weak transcription	HSMM	muscle
30	chr16:69761800-69773000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr16:69761800-69773000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr16:69761800-69773000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr16:69761800-69773000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr16:69761800-69773000	Weak transcription	Left Ventricle	heart
35	chr16:69761800-69773000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr16:69761800-69773400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr16:69761800-69773800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr16:69761800-69773800	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr16:69761800-69773800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr16:69761800-69774000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr16:69761800-69774200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr16:69761800-69774200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr16:69761800-69774200	Weak transcription	Brain Substantia Nigra	brain
44	chr16:69761800-69774200	Weak transcription	NHEK	skin
45	chr16:69761800-69774200	Weak transcription	NHLF	lung
46	chr16:69761800-69774400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr16:69761800-69787400	Weak transcription	Right Atrium	heart
48	chr16:69762000-69771400	Weak transcription	HSMMtube	muscle
49	chr16:69762000-69773000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr16:69762000-69773000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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