Variant report

Variant	rs2723567
Chromosome Location	chr7:17898479-17898480
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:17897387..17900281-chr7:17901948..17903936,2	K562	blood:

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10249221	0.82[EUR][1000 genomes]
rs10264355	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10264445	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10264447	0.84[EUR][1000 genomes]
rs1051603	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11768866	1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12699918	1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1357796	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1404414	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1404421	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1404422	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1404424	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1404425	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1524774	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1524775	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1524777	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1830006	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1852010	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1852011	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1965534	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1997019	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2030725	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2103144	0.97[EUR][1000 genomes]
rs2140710	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2177652	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2254176	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2462512	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2691552	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2691553	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2691555	0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2691557	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2691559	0.88[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2691581	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2691582	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2691583	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2691585	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2691586	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2691589	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2691592	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2691593	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2691594	0.90[YRI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2691595	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2691596	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2691597	0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2691600	0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2691601	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2691602	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2691604	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2691605	1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2691607	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2691609	0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2691610	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2691611	0.97[EUR][1000 genomes]
rs2691612	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2691613	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2691615	0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2691616	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2691617	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2691618	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2691620	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2691621	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2691623	0.93[EUR][1000 genomes]
rs2691625	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2691627	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2691628	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2691629	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2691630	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2714875	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2714876	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2714877	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2714878	0.81[ASN][1000 genomes]
rs2723494	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2723496	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2723497	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2723498	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2723499	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2723500	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2723501	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2723502	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2723503	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2723504	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2723505	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2723506	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2723507	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2723508	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2723515	0.82[YRI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2723521	0.89[YRI][hapmap]
rs2723540	0.99[EUR][1000 genomes]
rs2723545	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2723552	1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2723553	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2723554	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2723555	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2723556	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2723562	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2723569	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2723570	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2723571	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2723572	0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35819944	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4316058	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4532510	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4543433	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4721661	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4721665	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67452591	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6953831	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6955984	0.87[EUR][1000 genomes]
rs6958131	0.86[EUR][1000 genomes]
rs6958211	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6973480	0.86[EUR][1000 genomes]
rs6978097	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6978103	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs949451	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9942602	0.83[EUR][1000 genomes]
rs998342	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869352	chr7:17237983-17932878	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS 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 target site	23 gene(s)	inside rSNPs	diseases
2	nsv1021524	chr7:17251148-17963307	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv534309	chr7:17254118-17932878	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv533938	chr7:17254118-18040301	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
6	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
7	esv1802979	chr7:17816528-17908546	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv830913	chr7:17848480-18034218	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	esv1792752	chr7:17853983-17908546	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1026629	chr7:17862477-18362404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
11	nsv1025023	chr7:17865796-18357630	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
12	nsv1030201	chr7:17898410-18491985	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17839000-17932600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr7:17841200-17902600	Weak transcription	Brain Anterior Caudate	brain
3	chr7:17846000-17900600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:17852600-17902800	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:17853800-17914000	Weak transcription	Hela-S3	cervix
6	chr7:17854000-17900800	Weak transcription	K562	blood
7	chr7:17876200-17901000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr7:17877600-17902600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:17877800-17917400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr7:17878200-17918400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:17879800-17911000	Weak transcription	HepG2	liver
12	chr7:17881000-17899000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:17881000-17899600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr7:17881000-17901200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr7:17881000-17903400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:17881400-17903000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr7:17884600-17907400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr7:17885000-17928800	Weak transcription	HUVEC	blood vessel
19	chr7:17885200-17933800	Weak transcription	HMEC	breast
20	chr7:17888400-17900600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:17888400-17900800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:17888400-17901000	Weak transcription	NHLF	lung
23	chr7:17888400-17906600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:17888400-17934800	Weak transcription	Colonic Mucosa	Colon
25	chr7:17888600-17900400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr7:17888600-17900600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:17888600-17900600	Weak transcription	Aorta	Aorta
28	chr7:17888600-17900600	Weak transcription	Brain Hippocampus Middle	brain
29	chr7:17888600-17900600	Weak transcription	Pancreas	Pancrea
30	chr7:17888600-17900800	Weak transcription	Lung	lung
31	chr7:17888600-17901000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:17888600-17901000	Weak transcription	Gastric	stomach
33	chr7:17888600-17901000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr7:17888600-17921600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:17888800-17900400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr7:17888800-17900600	Weak transcription	Thymus	Thymus
37	chr7:17888800-17902400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:17889600-17900200	Weak transcription	Brain Substantia Nigra	brain
39	chr7:17889600-17900400	Weak transcription	Ovary	ovary
40	chr7:17889600-17900600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr7:17889600-17911000	Weak transcription	HSMMtube	muscle
42	chr7:17889800-17900000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr7:17890200-17905400	Weak transcription	Fetal Brain Male	brain
44	chr7:17891000-17899800	Weak transcription	Fetal Thymus	thymus
45	chr7:17891000-17900400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr7:17891000-17903200	Weak transcription	HSMM	muscle
47	chr7:17891000-17904400	Weak transcription	NHDF-Ad	bronchial
48	chr7:17891200-17900000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr7:17891200-17901000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr7:17891800-17922400	Weak transcription	NH-A	brain

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