Variant report

Variant	rs7830569
Chromosome Location	chr8:10982410-10982411
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10088853	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10101329	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10503413	0.82[ASN][1000 genomes]
rs10503415	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11776603	0.84[EUR][1000 genomes]
rs11778121	0.92[ASN][1000 genomes]
rs13265553	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13266785	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13276708	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13281566	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17152884	0.82[ASN][1000 genomes]
rs17726209	0.82[EUR][1000 genomes]
rs17782536	0.82[EUR][1000 genomes]
rs17782554	0.82[EUR][1000 genomes]
rs2409719	0.84[EUR][1000 genomes]
rs3021495	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3021497	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3021498	0.82[EUR][1000 genomes]
rs3021501	0.84[EUR][1000 genomes]
rs34069332	0.92[ASN][1000 genomes]
rs34309263	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34367737	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3736015	0.82[ASN][1000 genomes]
rs4291231	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4642600	0.86[EUR][1000 genomes]
rs4840548	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4841497	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4841499	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6601561	0.92[ASN][1000 genomes]
rs6601563	0.92[ASN][1000 genomes]
rs7000695	0.82[ASN][1000 genomes]
rs73545496	0.82[ASN][1000 genomes]
rs73547404	0.82[ASN][1000 genomes]
rs73547414	0.82[ASN][1000 genomes]
rs7832722	0.92[ASN][1000 genomes]
rs7842261	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv1815171	chr8:10940039-11128712	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1025426	chr8:10942929-11037903	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1026331	chr8:10955941-11046394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1027845	chr8:10959666-10995565	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	nsv1019796	chr8:10979442-11010826	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7830569	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs7830569	AF131215.2	cis	Nerve Tibial	GTEx

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10966200-10999000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:10966400-11026200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:10981200-10982800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:10981400-10982800	Enhancers	H9 Cell Line	embryonic stem cell
5	chr8:10981400-10983000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:10981400-10983000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr8:10981400-10983000	Enhancers	Lung	lung
8	chr8:10981400-10983200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr8:10981400-10983200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:10981600-10982600	Weak transcription	Spleen	Spleen
11	chr8:10981600-10982600	Active TSS	GM12878-XiMat	blood
12	chr8:10981600-10982800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:10981600-10983000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr8:10981600-10983000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr8:10981800-10983200	Enhancers	Primary T cells from cord blood	blood
16	chr8:10982000-10982800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr8:10982200-10982600	Flanking Active TSS	Primary B cells from peripheral blood	blood
18	chr8:10982200-10982800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr8:10982200-10982800	Enhancers	Fetal Thymus	thymus
20	chr8:10982200-10982800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:10982200-10983200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr8:10982200-10983600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr8:10982400-10982600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr8:10982400-10982600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr8:10982400-10982800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr8:10982400-10982800	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr8:10982400-10983000	Enhancers	Primary T cells fromperipheralblood	blood
28	chr8:10982400-10983000	Enhancers	Primary hematopoietic stem cells	blood
29	chr8:10982400-10983000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:10982400-10983200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:10982400-10983200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr8:10982400-10983200	Enhancers	Duodenum Mucosa	Duodenum
33	chr8:10982400-10983400	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr8:10982400-10983400	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr8:10982400-10983400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr8:10982400-10983400	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr8:10982400-10983400	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr8:10982400-10983400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr8:10982400-10983400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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