Variant report

Variant	rs2723540
Chromosome Location	chr7:17905690-17905691
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 169 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:157)

rs_ID	r²[population]
rs10216315	0.91[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs10227224	0.91[CHB][hapmap];0.89[JPT][hapmap]
rs10227501	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs10227582	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs10249221	0.81[EUR][1000 genomes]
rs10264355	0.91[EUR][1000 genomes]
rs10264445	0.84[EUR][1000 genomes]
rs10264447	0.83[EUR][1000 genomes]
rs10265373	0.86[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs1051603	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11768866	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11983260	0.90[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs12699918	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1357796	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1404414	1.00[CEU][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1404421	0.90[EUR][1000 genomes]
rs1404422	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs1404424	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1404425	0.91[EUR][1000 genomes]
rs1464804	0.87[CHB][hapmap]
rs1524774	1.00[CEU][hapmap];0.96[YRI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1524775	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1524776	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1524777	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1568815	0.83[ASN][1000 genomes]
rs1568817	0.83[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs1568818	0.82[ASN][1000 genomes]
rs1830006	0.91[EUR][1000 genomes]
rs1852010	0.91[EUR][1000 genomes]
rs1852011	0.89[EUR][1000 genomes]
rs1965534	0.91[EUR][1000 genomes]
rs1997019	0.91[EUR][1000 genomes]
rs2030725	0.92[EUR][1000 genomes]
rs2103144	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2140710	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2177652	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2254176	0.91[EUR][1000 genomes]
rs2389858	0.90[CEU][hapmap]
rs2462512	0.96[CEU][hapmap];0.83[CHB][hapmap];0.90[YRI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2691552	0.98[EUR][1000 genomes]
rs2691553	0.91[EUR][1000 genomes]
rs2691555	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2691557	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2691558	0.82[ASN][1000 genomes]
rs2691559	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2691560	0.83[ASN][1000 genomes]
rs2691561	0.82[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs2691562	0.83[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs2691563	0.83[ASN][1000 genomes]
rs2691564	0.83[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs2691566	0.83[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs2691567	0.81[ASN][1000 genomes]
rs2691568	0.83[ASN][1000 genomes]
rs2691569	0.83[ASN][1000 genomes]
rs2691570	0.81[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs2691571	0.83[ASN][1000 genomes]
rs2691580	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs2691581	0.91[EUR][1000 genomes]
rs2691582	0.91[EUR][1000 genomes]
rs2691583	0.92[CEU][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2691585	0.91[EUR][1000 genomes]
rs2691586	0.91[EUR][1000 genomes]
rs2691589	0.90[EUR][1000 genomes]
rs2691592	0.90[EUR][1000 genomes]
rs2691593	0.90[EUR][1000 genomes]
rs2691594	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2691595	0.90[EUR][1000 genomes]
rs2691596	0.90[EUR][1000 genomes]
rs2691597	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2691600	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2691601	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2691602	1.00[CEU][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2691604	0.91[EUR][1000 genomes]
rs2691605	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2691607	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2691609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2691610	0.91[EUR][1000 genomes]
rs2691611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2691612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2691613	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2691615	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2691616	0.91[EUR][1000 genomes]
rs2691617	0.84[EUR][1000 genomes]
rs2691618	1.00[CEU][hapmap];0.87[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2691620	1.00[CEU][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2691621	0.91[EUR][1000 genomes]
rs2691623	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2691625	0.89[EUR][1000 genomes]
rs2691627	0.91[EUR][1000 genomes]
rs2691628	0.91[EUR][1000 genomes]
rs2691629	0.91[EUR][1000 genomes]
rs2691630	0.91[EUR][1000 genomes]
rs2714855	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs2714857	0.87[CHB][hapmap];0.87[JPT][hapmap]
rs2714859	0.83[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs2714860	0.83[ASN][1000 genomes]
rs2714861	0.83[ASN][1000 genomes]
rs2714863	0.82[ASN][1000 genomes]
rs2714864	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs2714865	0.83[ASN][1000 genomes]
rs2714866	0.83[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs2714867	0.82[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs2714868	0.80[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs2714869	0.86[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs2714870	0.83[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs2714871	0.82[CHB][hapmap]
rs2714872	0.82[CHB][hapmap]
rs2714875	0.91[EUR][1000 genomes]
rs2714876	1.00[CEU][hapmap];0.95[YRI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2714877	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2723494	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2723496	0.91[EUR][1000 genomes]
rs2723497	0.91[EUR][1000 genomes]
rs2723498	0.91[EUR][1000 genomes]
rs2723499	0.91[EUR][1000 genomes]
rs2723500	0.91[EUR][1000 genomes]
rs2723501	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2723502	1.00[CEU][hapmap];0.91[YRI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2723503	0.91[EUR][1000 genomes]
rs2723504	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2723505	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2723506	0.90[EUR][1000 genomes]
rs2723507	0.90[EUR][1000 genomes]
rs2723508	0.90[EUR][1000 genomes]
rs2723515	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2723545	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2723552	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2723553	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2723554	0.91[EUR][1000 genomes]
rs2723555	0.92[EUR][1000 genomes]
rs2723556	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2723562	0.92[EUR][1000 genomes]
rs2723567	0.99[EUR][1000 genomes]
rs2723569	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2723570	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2723571	1.00[CEU][hapmap];0.88[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2723572	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35819944	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4316058	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs4532510	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4543433	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4721661	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4721665	1.00[CEU][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4721666	1.00[CEU][hapmap];0.91[YRI][hapmap]
rs4721671	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs56287412	0.82[ASN][1000 genomes]
rs67452591	0.97[EUR][1000 genomes]
rs6953831	0.88[EUR][1000 genomes]
rs6955984	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6958131	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6958211	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6973480	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6978097	0.89[EUR][1000 genomes]
rs6978103	0.87[EUR][1000 genomes]
rs949451	0.96[CEU][hapmap];0.91[YRI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9942602	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs998342	0.91[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:121 , 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	chr7:17853800-17914000	Weak transcription	Hela-S3	cervix
3	chr7:17877800-17917400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:17878200-17918400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:17879800-17911000	Weak transcription	HepG2	liver
6	chr7:17884600-17907400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr7:17885000-17928800	Weak transcription	HUVEC	blood vessel
8	chr7:17885200-17933800	Weak transcription	HMEC	breast
9	chr7:17888400-17906600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:17888400-17934800	Weak transcription	Colonic Mucosa	Colon
11	chr7:17888600-17921600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:17889600-17911000	Weak transcription	HSMMtube	muscle
13	chr7:17891800-17922400	Weak transcription	NH-A	brain
14	chr7:17895000-17906000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr7:17895000-17933600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:17896400-17918000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:17897200-17906800	Weak transcription	Small Intestine	intestine
18	chr7:17898800-17916000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr7:17899400-17911200	Weak transcription	GM12878-XiMat	blood
20	chr7:17899400-17915000	Strong transcription	Liver	Liver
21	chr7:17899600-17907000	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr7:17899800-17906800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:17899800-17915600	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr7:17900400-17907600	Strong transcription	Dnd41	blood
25	chr7:17900400-17909400	Strong transcription	Primary B cells from peripheral blood	blood
26	chr7:17900400-17956600	Weak transcription	A549	lung
27	chr7:17900600-17906600	Weak transcription	Osteobl	bone
28	chr7:17900800-17906400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:17901000-17909400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:17901200-17906400	Weak transcription	Stomach Mucosa	stomach
31	chr7:17901400-17946200	Weak transcription	NHLF	lung
32	chr7:17901600-17906800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr7:17901600-17911000	Weak transcription	Left Ventricle	heart
34	chr7:17901600-17918400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr7:17901600-17939800	Weak transcription	Pancreas	Pancrea
36	chr7:17902200-17908600	Strong transcription	Primary B cells from cord blood	blood
37	chr7:17902400-17907800	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr7:17902400-17915400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr7:17902600-17908400	Strong transcription	Primary hematopoietic stem cells	blood
40	chr7:17902800-17905800	Strong transcription	Colon Smooth Muscle	Colon
41	chr7:17903200-17908200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr7:17903400-17906000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:17903400-17906000	Weak transcription	Placenta	Placenta
44	chr7:17903400-17906000	Weak transcription	Ovary	ovary
45	chr7:17903400-17906800	Weak transcription	Esophagus	oesophagus
46	chr7:17903400-17906800	Weak transcription	Fetal Stomach	stomach
47	chr7:17903400-17907000	Weak transcription	Spleen	Spleen
48	chr7:17903400-17911400	Weak transcription	Right Ventricle	heart
49	chr7:17903400-17914400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:17903400-17916200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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