Variant report

Variant	rs2723555
Chromosome Location	chr7:17863633-17863634
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:17863336..17865666-chr7:17868902..17871409,2	K562	blood:
2	chr7:17861812..17864316-chr7:17866527..17868627,2	K562	blood:

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10249221	0.85[EUR][1000 genomes]
rs10264355	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10264445	0.88[EUR][1000 genomes]
rs10264447	0.87[EUR][1000 genomes]
rs1051603	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11768866	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12699918	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1357796	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1404414	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1404421	0.94[EUR][1000 genomes]
rs1404422	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1404424	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1404425	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1524774	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1524775	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1524777	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1830006	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1852010	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1852011	0.93[EUR][1000 genomes]
rs1965534	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1997019	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2030725	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2103144	0.90[EUR][1000 genomes]
rs2140710	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2177652	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2254176	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2462512	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2691552	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2691553	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2691555	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2691557	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2691559	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2691581	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2691582	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2691583	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2691585	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2691586	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2691589	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2691592	0.94[EUR][1000 genomes]
rs2691593	0.94[EUR][1000 genomes]
rs2691594	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2691595	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2691596	0.94[EUR][1000 genomes]
rs2691597	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2691600	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2691601	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2691602	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2691604	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2691605	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2691607	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2691609	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2691610	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2691611	0.94[EUR][1000 genomes]
rs2691612	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2691613	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2691615	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2691616	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2691617	0.88[EUR][1000 genomes]
rs2691618	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2691620	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2691621	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2691623	0.86[EUR][1000 genomes]
rs2691625	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2691627	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2691628	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2691629	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2691630	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2714875	0.85[EUR][1000 genomes]
rs2714876	0.92[EUR][1000 genomes]
rs2714877	0.92[EUR][1000 genomes]
rs2723494	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2723496	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2723497	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2723498	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2723499	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2723500	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2723501	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2723502	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2723503	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2723504	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2723505	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2723506	0.94[EUR][1000 genomes]
rs2723507	0.94[EUR][1000 genomes]
rs2723508	0.94[EUR][1000 genomes]
rs2723515	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2723540	0.92[EUR][1000 genomes]
rs2723545	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2723552	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2723553	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2723554	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2723556	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2723562	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2723567	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2723569	0.93[EUR][1000 genomes]
rs2723570	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2723571	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2723572	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35819944	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4316058	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4532510	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4543433	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4721661	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4721665	0.91[EUR][1000 genomes]
rs67452591	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6953831	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6955984	0.81[EUR][1000 genomes]
rs6958131	0.89[EUR][1000 genomes]
rs6958211	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6973480	0.80[EUR][1000 genomes]
rs6978097	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6978103	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs949451	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs998342	0.82[AMR][1000 genomes];0.95[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	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	nsv1021289	chr7:17254117-17873816	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv538754	chr7:17254117-17873816	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv887804	chr7:17571140-17885468	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	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
13	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

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17812600-17887600	Weak transcription	Gastric	stomach
2	chr7:17813600-17879200	Weak transcription	HSMMtube	muscle
3	chr7:17817400-17887600	Weak transcription	Pancreas	Pancrea
4	chr7:17823600-17887600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:17825800-17887600	Weak transcription	Colonic Mucosa	Colon
6	chr7:17826400-17864000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:17827400-17877600	Weak transcription	Small Intestine	intestine
8	chr7:17832000-17880600	Weak transcription	GM12878-XiMat	blood
9	chr7:17834000-17887800	Weak transcription	Right Ventricle	heart
10	chr7:17834200-17879400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr7:17834800-17888800	Weak transcription	Brain Substantia Nigra	brain
12	chr7:17838800-17887600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr7:17839000-17932600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr7:17841200-17883800	Weak transcription	HMEC	breast
15	chr7:17841200-17902600	Weak transcription	Brain Anterior Caudate	brain
16	chr7:17841600-17879400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:17843200-17881800	Weak transcription	A549	lung
18	chr7:17843400-17864000	Weak transcription	Osteobl	bone
19	chr7:17843400-17864600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:17843400-17879200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:17846000-17900600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:17847400-17879000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:17847400-17880600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr7:17847400-17887600	Weak transcription	Ovary	ovary
25	chr7:17847400-17887600	Weak transcription	Spleen	Spleen
26	chr7:17847600-17887600	Weak transcription	Fetal Stomach	stomach
27	chr7:17847800-17864200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr7:17851400-17865400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr7:17852600-17879200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr7:17852600-17887800	Weak transcription	Brain Hippocampus Middle	brain
31	chr7:17852600-17896000	Weak transcription	Fetal Kidney	kidney
32	chr7:17852600-17902800	Weak transcription	Colon Smooth Muscle	Colon
33	chr7:17852800-17880600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr7:17852800-17887000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:17852800-17890200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr7:17852800-17895000	Weak transcription	Brain Germinal Matrix	brain
37	chr7:17853000-17880400	Weak transcription	Thymus	Thymus
38	chr7:17853400-17884200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:17853400-17887600	Weak transcription	Aorta	Aorta
40	chr7:17853600-17887400	Weak transcription	Left Ventricle	heart
41	chr7:17853600-17888000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr7:17853800-17872600	Weak transcription	Fetal Thymus	thymus
43	chr7:17853800-17914000	Weak transcription	Hela-S3	cervix
44	chr7:17854000-17874600	Weak transcription	Dnd41	blood
45	chr7:17854000-17877200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr7:17854000-17877800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:17854000-17884000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:17854000-17887800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr7:17854000-17900800	Weak transcription	K562	blood
50	chr7:17854400-17872400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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