Variant report

Variant	rs2723554
Chromosome Location	chr7:17841652-17841653
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:17840712..17842698-chr7:17979227..17982552,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071189	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10249221	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10264355	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10264445	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10264447	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1051603	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[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	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1404414	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1404421	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1404422	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1404424	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1404425	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1524774	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1524775	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1524777	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1830006	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1852010	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1852011	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1965534	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1997019	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2030725	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2103144	0.89[EUR][1000 genomes]
rs2140710	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2177652	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2254176	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2462512	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2691552	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2691553	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2691555	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2691557	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2691559	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2691581	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2691582	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2691583	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2691585	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2691586	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2691589	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2691592	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2691593	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2691594	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2691595	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2691596	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2691597	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2691600	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2691601	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2691602	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2691604	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2691605	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2691607	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2691609	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2691610	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2691611	0.93[EUR][1000 genomes]
rs2691612	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2691613	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2691615	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2691616	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2691617	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2691618	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2691620	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2691621	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2691623	0.85[EUR][1000 genomes]
rs2691625	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2691627	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2691628	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2691629	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2691630	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2714875	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2714876	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2714877	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2723494	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2723496	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2723497	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2723498	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2723499	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2723500	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2723501	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2723502	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2723503	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2723504	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2723505	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2723506	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2723507	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2723508	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2723509	0.83[AFR][1000 genomes]
rs2723515	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2723521	0.80[AFR][1000 genomes]
rs2723540	0.91[EUR][1000 genomes]
rs2723545	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2723552	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2723553	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2723555	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2723556	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2723562	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2723567	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2723569	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2723570	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2723571	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2723572	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35819944	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4316058	0.90[AMR][1000 genomes];0.99[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	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67452591	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6953831	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6955984	0.80[EUR][1000 genomes]
rs6958131	0.91[EUR][1000 genomes]
rs6958211	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6978097	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6978103	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs949451	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs998342	0.90[AMR][1000 genomes];0.99[EUR][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

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

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	chr7:17817400-17887600	Weak transcription	Pancreas	Pancrea
6	chr7:17821800-17847000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:17822000-17846200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:17822000-17852600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:17822200-17845600	Weak transcription	NHLF	lung
10	chr7:17823000-17846200	Weak transcription	Fetal Intestine Small	intestine
11	chr7:17823200-17854400	Weak transcription	Lung	lung
12	chr7:17823600-17887600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr7:17824800-17861800	Weak transcription	Fetal Heart	heart
14	chr7:17825800-17887600	Weak transcription	Colonic Mucosa	Colon
15	chr7:17826000-17847000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:17826400-17846400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:17826400-17852400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:17826400-17853200	Weak transcription	Aorta	Aorta
19	chr7:17826400-17864000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:17827400-17877600	Weak transcription	Small Intestine	intestine
21	chr7:17828600-17844000	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr7:17828800-17847800	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr7:17829600-17843800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr7:17831000-17843400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:17831600-17842200	Weak transcription	A549	lung
26	chr7:17832000-17843400	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr7:17832000-17846400	Weak transcription	K562	blood
28	chr7:17832000-17849000	Weak transcription	Fetal Brain Female	brain
29	chr7:17832000-17862600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr7:17832000-17880600	Weak transcription	GM12878-XiMat	blood
31	chr7:17832200-17846200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:17832400-17846200	Weak transcription	Spleen	Spleen
33	chr7:17832400-17846400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr7:17832600-17846200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:17832800-17843400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:17833000-17843400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:17833000-17843600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:17833200-17842000	Strong transcription	Liver	Liver
39	chr7:17833200-17843400	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr7:17833200-17843600	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr7:17833400-17843600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr7:17833400-17845600	Weak transcription	Brain Angular Gyrus	brain
43	chr7:17834000-17846200	Weak transcription	Thymus	Thymus
44	chr7:17834000-17852400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr7:17834000-17853000	Weak transcription	Hela-S3	cervix
46	chr7:17834000-17887800	Weak transcription	Right Ventricle	heart
47	chr7:17834200-17843200	Weak transcription	Psoas Muscle	Psoas
48	chr7:17834200-17846400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr7:17834200-17846400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:17834200-17879400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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