Variant report

Variant	rs4846670
Chromosome Location	chr1:221069017-221069018
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10495156	0.95[EUR][1000 genomes]
rs11118625	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11118626	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11584914	0.95[EUR][1000 genomes]
rs11587049	0.95[EUR][1000 genomes]
rs11590376	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12141189	0.81[CEU][hapmap]
rs1335914	0.95[EUR][1000 genomes]
rs1414518	0.96[EUR][1000 genomes]
rs17597773	0.81[CEU][hapmap]
rs1889795	0.99[EUR][1000 genomes]
rs55703860	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56347111	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61819203	0.93[EUR][1000 genomes]
rs7546886	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	esv1798350	chr1:221020278-221069740	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221066200-221070000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:221067400-221069800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr1:221067400-221069800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr1:221067400-221070400	Active TSS	Colon Smooth Muscle	Colon
5	chr1:221067600-221069200	Bivalent Enhancer	Fetal Heart	heart
6	chr1:221067800-221069200	ZNF genes & repeats	Spleen	Spleen
7	chr1:221068200-221069200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:221068200-221069200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:221068200-221069200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
10	chr1:221068200-221069200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:221068200-221069200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr1:221068200-221069200	Enhancers	Pancreas	Pancrea
13	chr1:221068200-221069600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:221068200-221069800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:221068200-221070200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:221068800-221069200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:221068800-221069200	Bivalent Enhancer	Brain Germinal Matrix	brain
18	chr1:221068800-221069200	Bivalent Enhancer	Fetal Thymus	thymus
19	chr1:221068800-221069200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
20	chr1:221068800-221069400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
21	chr1:221068800-221069400	Bivalent Enhancer	Fetal Stomach	stomach
22	chr1:221068800-221070000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr1:221068800-221070200	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr1:221069000-221069200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
25	chr1:221069000-221069200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
26	chr1:221069000-221069200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
27	chr1:221069000-221069200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:221069000-221069200	Bivalent Enhancer	Liver	Liver
29	chr1:221069000-221069200	Bivalent Enhancer	Brain Substantia Nigra	brain
30	chr1:221069000-221069200	Bivalent Enhancer	Fetal Brain Female	brain
31	chr1:221069000-221069200	Bivalent Enhancer	Left Ventricle	heart
32	chr1:221069000-221069400	Bivalent Enhancer	Fetal Lung	lung
33	chr1:221069000-221069600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
34	chr1:221069000-221069600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
35	chr1:221069000-221079400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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