Variant report

Variant	rs6981249
Chromosome Location	chr8:10494032-10494033
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10094634	1.00[ASN][1000 genomes]
rs10102073	1.00[ASN][1000 genomes]
rs11986717	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13281534	1.00[ASN][1000 genomes]
rs28375521	1.00[ASN][1000 genomes]
rs28754712	1.00[ASN][1000 genomes]
rs4129653	1.00[ASN][1000 genomes]
rs4620243	1.00[ASN][1000 genomes]
rs55782357	1.00[ASN][1000 genomes]
rs55829418	1.00[ASN][1000 genomes]
rs60239832	1.00[ASN][1000 genomes]
rs6601494	1.00[ASN][1000 genomes]
rs7018069	1.00[ASN][1000 genomes]
rs73200708	1.00[ASN][1000 genomes]
rs73200714	1.00[ASN][1000 genomes]
rs73662878	1.00[ASN][1000 genomes]
rs7463228	1.00[ASN][1000 genomes]
rs7813417	1.00[ASN][1000 genomes]
rs7824878	1.00[ASN][1000 genomes]
rs7833599	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7838734	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7844511	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7845069	1.00[ASN][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	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv610267	chr8:10268736-10526742	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1015932	chr8:10357101-10597856	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv1031279	chr8:10448142-10501380	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv1022682	chr8:10453091-10501380	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
10	nsv539467	chr8:10455842-10495689	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10489000-10494200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:10492200-10495600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
3	chr8:10492600-10494600	Bivalent Enhancer	Adipose Nuclei	Adipose
4	chr8:10492600-10494800	Enhancers	Lung	lung
5	chr8:10492600-10495000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr8:10492600-10495800	Enhancers	HUVEC	blood vessel
7	chr8:10492800-10494800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
8	chr8:10493000-10494200	Enhancers	Fetal Thymus	thymus
9	chr8:10493000-10494600	Enhancers	Fetal Muscle Leg	muscle
10	chr8:10493000-10494600	Enhancers	Right Atrium	heart
11	chr8:10493000-10495800	Enhancers	Spleen	Spleen
12	chr8:10493200-10494600	Enhancers	Primary hematopoietic stem cells	blood
13	chr8:10493200-10495000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr8:10493400-10494400	Enhancers	Placenta	Placenta
15	chr8:10493400-10494400	Bivalent Enhancer	Fetal Stomach	stomach
16	chr8:10493400-10494600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:10493400-10494800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr8:10493400-10494800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:10493400-10494800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:10493400-10495800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:10493600-10494600	Enhancers	H9 Cell Line	embryonic stem cell
22	chr8:10493600-10494600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr8:10493600-10494800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr8:10493600-10495400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr8:10493600-10495600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:10493800-10494200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:10493800-10494200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:10493800-10494200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr8:10493800-10494200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:10493800-10494200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:10493800-10494200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
32	chr8:10493800-10494400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr8:10493800-10494600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr8:10493800-10494600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr8:10493800-10494600	Enhancers	Right Ventricle	heart
36	chr8:10493800-10494800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:10493800-10494800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr8:10494000-10494200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
39	chr8:10494000-10494400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:10494000-10494400	Enhancers	Primary B cells from peripheral blood	blood
41	chr8:10494000-10494600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:10494000-10494800	Bivalent Enhancer	Left Ventricle	heart
43	chr8:10494000-10494800	Enhancers	Ovary	ovary

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