Variant report

Variant	rs10228505
Chromosome Location	chr7:27897110-27897111
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10228576	0.98[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10245536	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10281008	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10486562	1.00[ASN][1000 genomes]
rs11761430	0.94[ASN][1000 genomes]
rs11761467	0.94[ASN][1000 genomes]
rs11763610	0.88[ASN][1000 genomes]
rs11763861	0.88[ASN][1000 genomes]
rs11765837	0.88[ASN][1000 genomes]
rs11768570	0.88[ASN][1000 genomes]
rs11769157	0.88[ASN][1000 genomes]
rs11984239	1.00[ASN][1000 genomes]
rs17150567	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17155691	0.81[ASN][1000 genomes]
rs17155744	0.85[ASN][1000 genomes]
rs17155797	0.88[ASN][1000 genomes]
rs17155802	0.88[ASN][1000 genomes]
rs17155863	0.94[ASN][1000 genomes]
rs17692264	0.94[ASN][1000 genomes]
rs17692895	0.90[ASN][1000 genomes]
rs2285929	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28432782	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28693893	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28805873	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56172733	0.88[ASN][1000 genomes]
rs58979783	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61179177	1.00[ASN][1000 genomes]
rs61446104	1.00[ASN][1000 genomes]
rs62449628	0.88[ASN][1000 genomes]
rs62449630	0.88[ASN][1000 genomes]
rs62451066	0.88[ASN][1000 genomes]
rs62451068	0.94[ASN][1000 genomes]
rs62451070	0.94[ASN][1000 genomes]
rs62451071	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62451072	1.00[ASN][1000 genomes]
rs62451074	1.00[ASN][1000 genomes]
rs62451078	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62454809	0.88[ASN][1000 genomes]
rs6979972	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73075305	0.94[ASN][1000 genomes]
rs73075333	0.94[ASN][1000 genomes]
rs73078746	0.88[ASN][1000 genomes]
rs73078762	0.88[ASN][1000 genomes]
rs739900	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7797888	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats 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	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2758109	chr7:27793616-27972869	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv2759520	chr7:27793616-27972869	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1018550	chr7:27844038-27925645	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27875200-27913000	Weak transcription	Right Atrium	heart
2	chr7:27876200-27913000	Weak transcription	Fetal Heart	heart
3	chr7:27880600-27903000	Weak transcription	Lung	lung
4	chr7:27880600-27913600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:27880800-27913200	Weak transcription	Aorta	Aorta
6	chr7:27881000-27905600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr7:27882800-27912000	Weak transcription	Brain Anterior Caudate	brain
8	chr7:27883600-27903000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr7:27883800-27903000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:27885200-27900400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr7:27886400-27902000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:27889200-27912000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr7:27893200-27909000	Weak transcription	Right Ventricle	heart
14	chr7:27894200-27900000	Weak transcription	Pancreas	Pancrea
15	chr7:27894400-27903200	Weak transcription	HMEC	breast
16	chr7:27894800-27903200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr7:27895600-27897200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
18	chr7:27895600-27897200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:27895800-27897200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:27895800-27897200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:27896000-27897200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:27896000-27903400	Weak transcription	Fetal Stomach	stomach
23	chr7:27896000-27908200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr7:27896200-27913600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:27896600-27897200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:27896600-27897200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
27	chr7:27896600-27897200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
28	chr7:27896600-27897200	Enhancers	Spleen	Spleen
29	chr7:27896600-27901600	Weak transcription	Primary B cells from cord blood	blood
30	chr7:27896600-27901800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr7:27896600-27907200	Weak transcription	Primary T cells from cord blood	blood
32	chr7:27896800-27897200	ZNF genes & repeats	Gastric	stomach

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