Variant report

Variant	rs7212326
Chromosome Location	chr17:16105769-16105770
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	chr17:16105475..16107770-chr17:16118140..16120504,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141027	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1073093	0.80[AMR][1000 genomes]
rs1073095	0.80[AMR][1000 genomes]
rs16959544	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16959547	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2302314	0.82[EUR][1000 genomes]
rs4792723	0.86[AMR][1000 genomes]
rs57825293	0.85[AMR][1000 genomes]
rs57843678	0.86[AMR][1000 genomes]
rs58475330	0.86[AMR][1000 genomes]
rs59172522	0.80[AMR][1000 genomes]
rs60374261	0.86[ASN][1000 genomes]
rs60918926	0.90[EUR][1000 genomes]
rs6502495	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6502496	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7207630	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7207901	0.85[AMR][1000 genomes]
rs7208681	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7209811	0.82[EUR][1000 genomes]
rs7210068	0.82[EUR][1000 genomes]
rs7210264	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7212874	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7215673	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7217418	0.82[EUR][1000 genomes]
rs7218342	0.86[ASN][1000 genomes]
rs7219365	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7219665	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7219795	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7219810	0.86[ASN][1000 genomes]
rs7219980	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7220699	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7223409	0.85[AMR][1000 genomes]
rs7223807	0.86[ASN][1000 genomes]
rs7224575	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7225813	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7225926	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73978817	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73981431	0.80[AMR][1000 genomes]
rs73981433	0.80[AMR][1000 genomes]
rs73981436	0.80[AMR][1000 genomes]
rs73981443	0.80[AMR][1000 genomes]
rs73981445	0.80[AMR][1000 genomes]
rs73981447	0.85[AMR][1000 genomes]
rs73981450	0.85[AMR][1000 genomes]
rs73981462	0.86[AMR][1000 genomes]
rs73981464	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73981466	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73981467	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73981471	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73981477	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73981482	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs764984	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8065649	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8067494	0.80[AMR][1000 genomes]
rs8068335	0.82[EUR][1000 genomes]
rs8069052	0.82[EUR][1000 genomes]
rs8077949	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8079698	0.80[AMR][1000 genomes]
rs9674583	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv522169	chr17:15923709-16147821	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv907713	chr17:15981874-16127206	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv907714	chr17:15990013-16110384	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv907715	chr17:16019978-16206540	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
9	nsv907716	chr17:16068422-16116835	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv907717	chr17:16076898-16239832	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
11	nsv907718	chr17:16080849-16143709	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
12	nsv960423	chr17:16089865-16112673	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv528263	chr17:16097430-16196996	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16049200-16108600	Weak transcription	Esophagus	oesophagus
2	chr17:16064600-16106000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr17:16087200-16108200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:16088000-16117000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr17:16088200-16116200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr17:16089600-16114600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr17:16090000-16116800	Weak transcription	NH-A	brain
8	chr17:16093600-16117000	Weak transcription	Aorta	Aorta
9	chr17:16094800-16106000	Weak transcription	Fetal Heart	heart
10	chr17:16095000-16106200	Weak transcription	Hela-S3	cervix
11	chr17:16095200-16117000	Weak transcription	Right Ventricle	heart
12	chr17:16097600-16106200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr17:16097800-16106600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr17:16098000-16106600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr17:16098800-16106200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr17:16099200-16106200	Weak transcription	Placenta	Placenta
17	chr17:16101200-16106000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr17:16101200-16106000	Weak transcription	Fetal Thymus	thymus
19	chr17:16101200-16106200	Weak transcription	Ovary	ovary
20	chr17:16101200-16106800	Weak transcription	Dnd41	blood
21	chr17:16101200-16108000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr17:16101200-16114800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr17:16101600-16116000	Weak transcription	Thymus	Thymus
24	chr17:16101800-16111000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr17:16101800-16117000	Weak transcription	Fetal Stomach	stomach
26	chr17:16102000-16107000	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr17:16102000-16108200	Enhancers	Liver	Liver
28	chr17:16102200-16107400	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr17:16102200-16110200	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr17:16102400-16106200	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr17:16102400-16107000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr17:16102400-16108400	Enhancers	A549	lung
33	chr17:16102400-16116800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr17:16102600-16106200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr17:16102600-16106200	Enhancers	Stomach Smooth Muscle	stomach
36	chr17:16102600-16107000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr17:16102800-16105800	Weak transcription	Primary T cells from cord blood	blood
38	chr17:16102800-16106200	Weak transcription	NHLF	lung
39	chr17:16102800-16108200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr17:16102800-16111800	Weak transcription	K562	blood
41	chr17:16103000-16105800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr17:16103000-16105800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr17:16103000-16105800	Enhancers	GM12878-XiMat	blood
44	chr17:16103000-16106800	Weak transcription	Fetal Kidney	kidney
45	chr17:16103200-16111800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr17:16103400-16106000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr17:16103600-16105800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr17:16103600-16106000	Weak transcription	Right Atrium	heart
49	chr17:16103600-16107800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr17:16103600-16108000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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