Variant report

Variant	rs3844165
Chromosome Location	chr1:77854238-77854239
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12022440	1.00[YRI][hapmap]
rs12030598	1.00[ASW][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap]
rs12030606	1.00[YRI][hapmap]
rs12567557	0.82[CHB][hapmap];0.86[CHD][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs12748599	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12751884	1.00[YRI][hapmap]
rs17380036	1.00[YRI][hapmap]
rs55944358	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7543460	0.97[ASN][1000 genomes]
rs7547493	1.00[ASW][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap]
rs7549462	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005183	chr1:77728990-77949309	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv535010	chr1:77728990-77949309	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv932557	chr1:77730247-77958687	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1003714	chr1:77756861-77949309	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77845200-77860000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:77845200-77878000	Weak transcription	Primary T cells from cord blood	blood
3	chr1:77845200-77878400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr1:77846400-77859200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:77847400-77860200	Weak transcription	HSMM	muscle
6	chr1:77848400-77859400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:77851800-77854800	Enhancers	Brain Cingulate Gyrus	brain
8	chr1:77851800-77854800	Enhancers	Brain Substantia Nigra	brain
9	chr1:77852000-77854800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:77852000-77854800	Enhancers	Brain Anterior Caudate	brain
11	chr1:77852000-77855000	Enhancers	Brain Angular Gyrus	brain
12	chr1:77852000-77855000	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr1:77852200-77854400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:77852200-77854600	Weak transcription	Aorta	Aorta
15	chr1:77852400-77855000	Enhancers	Brain Hippocampus Middle	brain
16	chr1:77852800-77855000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr1:77852800-77855000	Genic enhancers	NHDF-Ad	bronchial
18	chr1:77853400-77854400	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr1:77853400-77854800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:77853600-77855000	Enhancers	NHLF	lung
21	chr1:77853800-77854800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:77854000-77854800	Enhancers	Osteobl	bone
23	chr1:77854000-77855000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:77854000-77855000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr1:77854000-77855200	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr1:77854000-77865200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr1:77854200-77854600	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr1:77854200-77854800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:77854200-77855000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr1:77854200-77860200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:77854200-77863600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:77854200-77864200	Weak transcription	Brain Germinal Matrix	brain

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