Variant report

Variant	rs7223409
Chromosome Location	chr17:16021010-16021011
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:16019669..16022129-chr17:16022606..16024865,2	K562	blood:
2	chr17:16019117..16021633-chr17:16117621..16119392,2	MCF-7	breast:
3	chr17:16018918..16021715-chr17:16028326..16030856,2	K562	blood:
4	chr13:21346241..21348378-chr17:16020761..16023781,3	MCF-7	breast:
5	chr17:16019956..16022065-chr17:16032573..16034409,2	K562	blood:

Variant related genes	Relation type
ENSG00000141027	Chromatin interaction
ENSG00000150456	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1073093	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1073094	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1073095	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11554356	0.93[EUR][1000 genomes]
rs16959544	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16959547	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3744328	0.93[EUR][1000 genomes]
rs3760295	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3760296	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4500784	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4792723	0.81[AMR][1000 genomes]
rs56054575	0.93[EUR][1000 genomes]
rs56190835	0.93[EUR][1000 genomes]
rs56195102	0.93[EUR][1000 genomes]
rs56375441	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56733317	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57825293	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57843678	0.81[AMR][1000 genomes]
rs58475330	0.81[AMR][1000 genomes]
rs58883023	0.93[EUR][1000 genomes]
rs59172522	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59665399	0.93[EUR][1000 genomes]
rs60011951	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60198485	0.81[EUR][1000 genomes]
rs60918926	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61352879	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61365058	0.81[EUR][1000 genomes]
rs62073589	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6502484	0.93[EUR][1000 genomes]
rs6502495	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6502496	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7207630	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7207901	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7208681	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7210264	0.90[AMR][1000 genomes]
rs7211957	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7212326	0.85[AMR][1000 genomes]
rs7212874	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7217493	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7218152	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7219263	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7219365	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7219795	0.90[AMR][1000 genomes]
rs7219980	0.90[AMR][1000 genomes]
rs7220699	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7224403	0.93[EUR][1000 genomes]
rs7224575	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7225813	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73978591	0.93[EUR][1000 genomes]
rs73978594	0.93[EUR][1000 genomes]
rs73978602	0.93[EUR][1000 genomes]
rs73978817	0.90[AMR][1000 genomes]
rs73981406	0.93[EUR][1000 genomes]
rs73981410	0.93[EUR][1000 genomes]
rs73981413	0.93[EUR][1000 genomes]
rs73981414	0.93[EUR][1000 genomes]
rs73981417	0.93[EUR][1000 genomes]
rs73981421	0.93[EUR][1000 genomes]
rs73981425	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73981431	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73981433	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73981436	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73981438	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73981440	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73981442	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73981443	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73981444	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73981445	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73981447	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73981450	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73981453	0.90[AMR][1000 genomes]
rs73981460	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73981461	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73981462	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73981464	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73981466	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73981467	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73981471	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73981477	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73981482	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8067494	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8070719	0.93[EUR][1000 genomes]
rs8077643	0.81[EUR][1000 genomes]
rs8077949	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs8078888	0.93[EUR][1000 genomes]
rs8079698	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	nsv1066023	chr17:15607267-16053512	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv907706	chr17:15731923-16056442	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	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
7	nsv1062220	chr17:15869557-16093156	Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	nsv1064878	chr17:15869557-16097241	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	nsv1055173	chr17:15875935-16097241	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
10	nsv1056157	chr17:15890584-16088473	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	nsv833377	chr17:15912013-16104515	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	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
13	nsv907711	chr17:15978663-16092902	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv907712	chr17:15981874-16103426	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15995400-16021400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:15999400-16052400	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr17:15999800-16047600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr17:16005000-16038600	Weak transcription	Stomach Mucosa	stomach
5	chr17:16006600-16064200	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr17:16011000-16022200	Weak transcription	Colon Smooth Muscle	Colon
7	chr17:16014400-16029800	Strong transcription	Sigmoid Colon	Sigmoid Colon
8	chr17:16014600-16028600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr17:16015400-16030400	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr17:16015400-16031800	Strong transcription	Fetal Intestine Large	intestine
11	chr17:16015600-16077600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr17:16015800-16024600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr17:16015800-16029600	Strong transcription	Fetal Thymus	thymus
14	chr17:16015800-16064400	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr17:16016000-16026600	Strong transcription	Fetal Muscle Trunk	muscle
16	chr17:16016400-16022200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr17:16016400-16029800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr17:16016400-16064200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr17:16016600-16024400	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr17:16016800-16025200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
21	chr17:16016800-16048800	Strong transcription	Adipose Nuclei	Adipose
22	chr17:16017000-16039600	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr17:16017200-16025800	Strong transcription	Fetal Kidney	kidney
24	chr17:16017200-16030400	Strong transcription	Osteobl	bone
25	chr17:16017200-16064200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr17:16017400-16021600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr17:16017400-16022400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr17:16017400-16023200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr17:16017400-16024600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr17:16017400-16025000	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr17:16017600-16021400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr17:16017600-16022400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
33	chr17:16017600-16024600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr17:16017600-16026400	Strong transcription	Left Ventricle	heart
35	chr17:16017600-16028000	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr17:16017600-16036000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr17:16017800-16021400	Strong transcription	Brain Anterior Caudate	brain
38	chr17:16017800-16021800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
39	chr17:16017800-16024000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr17:16017800-16025000	Strong transcription	Rectal Smooth Muscle	rectum
41	chr17:16017800-16025400	Strong transcription	HUVEC	blood vessel
42	chr17:16018000-16021400	Strong transcription	Brain Angular Gyrus	brain
43	chr17:16018000-16024400	Strong transcription	HSMM	muscle
44	chr17:16018000-16024600	Strong transcription	NHDF-Ad	bronchial
45	chr17:16018000-16026600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr17:16018000-16028000	Strong transcription	HepG2	liver
47	chr17:16018200-16025200	Weak transcription	Fetal Heart	heart
48	chr17:16018200-16025600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr17:16018600-16021200	Weak transcription	Fetal Brain Male	brain
50	chr17:16018600-16023000	Weak transcription	Esophagus	oesophagus

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