Variant report

Variant	rs808972
Chromosome Location	chr10:44789989-44789990
allele	A/T
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:29)

rs_ID	r²[population]
rs1147883	1.00[ASN][1000 genomes]
rs17156150	1.00[ASN][1000 genomes]
rs1746051	1.00[ASN][1000 genomes]
rs1746053	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2146808	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs266080	1.00[ASN][1000 genomes]
rs266082	1.00[ASN][1000 genomes]
rs266083	1.00[ASN][1000 genomes]
rs2760671	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2760672	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2802478	1.00[ASN][1000 genomes]
rs2802479	1.00[ASN][1000 genomes]
rs34941677	1.00[ASN][1000 genomes]
rs35155049	1.00[ASN][1000 genomes]
rs35374150	1.00[ASN][1000 genomes]
rs549054	1.00[ASN][1000 genomes]
rs702363	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71491034	1.00[ASN][1000 genomes]
rs768676	1.00[ASN][1000 genomes]
rs7918766	1.00[ASN][1000 genomes]
rs800309	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs800316	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs800318	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs800320	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs800324	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs800327	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs809601	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs810236	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs812331	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038511	chr10:44596885-44870030	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv508579	chr10:44709770-44799256	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv3422728	chr10:44788646-44792944	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3352463	chr10:44789446-44792444	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44787800-44790800	Enhancers	Fetal Heart	heart
2	chr10:44787800-44791600	Enhancers	Ovary	ovary
3	chr10:44788200-44790400	Weak transcription	Pancreas	Pancrea
4	chr10:44788200-44790600	Weak transcription	Spleen	Spleen
5	chr10:44788200-44791000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr10:44788600-44791200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr10:44788600-44791600	Enhancers	NHDF-Ad	bronchial
8	chr10:44789000-44790000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr10:44789000-44790000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr10:44789000-44790000	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr10:44789000-44790200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr10:44789000-44791400	Enhancers	GM12878-XiMat	blood
13	chr10:44789000-44791600	Enhancers	Right Ventricle	heart
14	chr10:44789200-44790000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
15	chr10:44789200-44790000	Enhancers	Brain Anterior Caudate	brain
16	chr10:44789200-44790200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
17	chr10:44789200-44790200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
18	chr10:44789200-44790200	Enhancers	Colon Smooth Muscle	Colon
19	chr10:44789200-44790200	Enhancers	Right Atrium	heart
20	chr10:44789200-44790400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr10:44789200-44790400	Weak transcription	Brain Substantia Nigra	brain
22	chr10:44789200-44790400	Weak transcription	Gastric	stomach
23	chr10:44789200-44791000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr10:44789200-44791000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr10:44789200-44791200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr10:44789200-44791400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr10:44789200-44791400	Enhancers	Rectal Smooth Muscle	rectum
28	chr10:44789200-44796600	Weak transcription	Fetal Brain Female	brain
29	chr10:44789400-44790000	Enhancers	Adipose Nuclei	Adipose
30	chr10:44789400-44790000	Bivalent Enhancer	Fetal Intestine Small	intestine
31	chr10:44789400-44791000	Weak transcription	Brain Hippocampus Middle	brain
32	chr10:44789400-44791200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr10:44789400-44791600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr10:44789600-44790000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
35	chr10:44789600-44790200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr10:44789600-44790200	Flanking Active TSS	Osteobl	bone
37	chr10:44789800-44790000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
38	chr10:44789800-44790200	Enhancers	Fetal Stomach	stomach
39	chr10:44789800-44790200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr10:44789800-44790200	Flanking Active TSS	NHLF	lung
41	chr10:44789800-44790400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr10:44789800-44790400	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr10:44789800-44790600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr10:44789800-44790600	Enhancers	Aorta	Aorta
45	chr10:44789800-44790800	Weak transcription	NH-A	brain
46	chr10:44789800-44791000	Enhancers	Lung	lung
47	chr10:44789800-44791200	Enhancers	Left Ventricle	heart

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