Variant report

Variant	rs2691621
Chromosome Location	chr7:17822450-17822451
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	chr7:17816362..17819179-chr7:17820951..17822605,2	K562	blood:

Extended variants
information (count: 125 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10249221	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10264355	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10264445	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10264447	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1051603	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11768866	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12699918	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1357796	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1404414	0.95[EUR][1000 genomes]
rs1404421	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1404422	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1404424	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1404425	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1524774	0.95[EUR][1000 genomes]
rs1524775	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1524777	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1830006	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1852010	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1852011	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1965534	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1997019	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2030725	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2103144	0.89[EUR][1000 genomes]
rs2140710	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2177652	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2254176	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2462512	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2691552	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2691553	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2691555	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2691557	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2691559	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2691581	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2691582	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2691583	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2691584	0.93[AFR][1000 genomes]
rs2691585	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2691586	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2691589	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2691592	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2691593	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2691594	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2691595	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2691596	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2691597	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2691600	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2691601	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2691602	0.94[EUR][1000 genomes]
rs2691604	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2691605	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2691607	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2691609	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2691610	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2691611	0.93[EUR][1000 genomes]
rs2691612	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2691613	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2691615	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2691616	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2691617	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2691618	0.92[EUR][1000 genomes]
rs2691620	0.92[EUR][1000 genomes]
rs2691623	0.85[EUR][1000 genomes]
rs2691625	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2691627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2691628	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2691629	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2691630	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2714875	0.84[EUR][1000 genomes]
rs2714876	0.91[EUR][1000 genomes]
rs2714877	0.91[EUR][1000 genomes]
rs2723494	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2723496	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2723497	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2723498	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2723499	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2723500	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2723501	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2723502	0.97[EUR][1000 genomes]
rs2723503	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2723504	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2723505	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2723506	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2723507	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2723508	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2723509	0.82[AFR][1000 genomes]
rs2723513	0.82[AFR][1000 genomes]
rs2723515	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2723521	0.80[AFR][1000 genomes]
rs2723540	0.91[EUR][1000 genomes]
rs2723545	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2723552	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2723553	0.95[EUR][1000 genomes]
rs2723554	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2723555	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2723556	0.95[EUR][1000 genomes]
rs2723562	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2723567	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2723569	0.92[EUR][1000 genomes]
rs2723570	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2723571	0.92[EUR][1000 genomes]
rs2723572	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35819944	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4316058	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4532510	0.88[EUR][1000 genomes]
rs4543433	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4721661	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4721665	0.90[EUR][1000 genomes]
rs67452591	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6953831	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6958131	0.91[EUR][1000 genomes]
rs6958211	0.92[EUR][1000 genomes]
rs6978097	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6978103	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs949451	0.91[EUR][1000 genomes]
rs998342	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2691621	SNX13	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17812400-17846200	Weak transcription	Fetal Stomach	stomach
2	chr7:17812400-17852200	Weak transcription	Esophagus	oesophagus
3	chr7:17812600-17887600	Weak transcription	Gastric	stomach
4	chr7:17813600-17879200	Weak transcription	HSMMtube	muscle
5	chr7:17813800-17833200	Weak transcription	Fetal Thymus	thymus
6	chr7:17813800-17836200	Weak transcription	HSMM	muscle
7	chr7:17814200-17833200	Weak transcription	Right Ventricle	heart
8	chr7:17814600-17828600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:17814600-17833400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:17815000-17833200	Weak transcription	Left Ventricle	heart
11	chr7:17815200-17829200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:17816200-17833200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:17817400-17887600	Weak transcription	Pancreas	Pancrea
14	chr7:17820800-17833200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr7:17821000-17822600	Enhancers	HUVEC	blood vessel
16	chr7:17821000-17822600	Enhancers	NH-A	brain
17	chr7:17821200-17823800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:17821200-17827000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr7:17821400-17822600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:17821800-17833200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr7:17821800-17847000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:17822000-17846200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:17822000-17852600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:17822200-17837000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:17822200-17845600	Weak transcription	NHLF	lung
26	chr7:17822400-17823400	Weak transcription	NHEK	skin
27	chr7:17822400-17823600	Weak transcription	HMEC	breast
28	chr7:17822400-17826800	Weak transcription	Thymus	Thymus
29	chr7:17822400-17833000	Weak transcription	Osteobl	bone
30	chr7:17822400-17833200	Weak transcription	Fetal Muscle Leg	muscle

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