Variant report

Variant	rs13260419
Chromosome Location	chr8:8675176-8675177
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8674703..8676330-chr8:8678081..8680231,2	K562	blood:

Variant related genes	Relation type
ENSG00000147324	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10088933	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11783966	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12547493	0.88[ASN][1000 genomes]
rs13265731	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1473029	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28399241	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4841043	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4841044	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4841047	0.89[EUR][1000 genomes]
rs6988939	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6993494	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7006589	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9329167	0.86[AMR][1000 genomes];0.92[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	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1019606	chr8:8353661-8736992	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539456	chr8:8353661-8736992	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1022511	chr8:8493992-8737132	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv539457	chr8:8493992-8737132	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	esv1824870	chr8:8583943-8699382	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
12	nsv890338	chr8:8669622-8707970	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13260419	SGK223	cis	Thyroid	GTEx
rs13260419	C8orf5	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8637600-8679800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:8655200-8680600	Weak transcription	Colonic Mucosa	Colon
3	chr8:8655600-8685600	Weak transcription	Fetal Brain Female	brain
4	chr8:8658400-8675200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:8658400-8687200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr8:8660200-8684400	Weak transcription	HSMMtube	muscle
7	chr8:8662600-8683400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr8:8662800-8679800	Weak transcription	Brain Angular Gyrus	brain
9	chr8:8663400-8691800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:8663600-8681400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:8664000-8678600	Weak transcription	Spleen	Spleen
12	chr8:8664000-8682400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:8664200-8681200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:8664200-8691400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:8664400-8675200	Weak transcription	Pancreas	Pancrea
16	chr8:8664400-8691800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:8664600-8683200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr8:8667000-8680000	Weak transcription	Esophagus	oesophagus
19	chr8:8667200-8678400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr8:8667200-8683600	Weak transcription	NHDF-Ad	bronchial
21	chr8:8667200-8685800	Weak transcription	Right Atrium	heart
22	chr8:8667200-8686200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr8:8667200-8699200	Weak transcription	Aorta	Aorta
24	chr8:8667200-8701600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr8:8667400-8677800	Weak transcription	Fetal Muscle Leg	muscle
26	chr8:8667400-8678200	Weak transcription	Adipose Nuclei	Adipose
27	chr8:8667400-8678400	Weak transcription	A549	lung
28	chr8:8667400-8679000	Weak transcription	NHLF	lung
29	chr8:8667400-8685400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr8:8667400-8686000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:8667400-8693400	Weak transcription	Small Intestine	intestine
32	chr8:8667600-8679200	Weak transcription	HepG2	liver
33	chr8:8667600-8679400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr8:8667600-8679800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:8667600-8685800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr8:8667600-8701000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr8:8668000-8675200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr8:8668200-8681400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr8:8668600-8675400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr8:8668600-8679400	Weak transcription	Fetal Brain Male	brain
41	chr8:8668600-8679800	Weak transcription	Fetal Kidney	kidney
42	chr8:8669800-8677200	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr8:8670000-8676400	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr8:8670000-8677800	Weak transcription	Fetal Lung	lung
45	chr8:8670000-8678200	Weak transcription	Fetal Intestine Small	intestine
46	chr8:8670000-8679400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:8670000-8701200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:8670200-8678000	Weak transcription	Fetal Thymus	thymus
49	chr8:8670200-8678200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:8670200-8678200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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