Variant report

Variant	rs3921995
Chromosome Location	chr1:77753517-77753518
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:77753173..77754991-chr1:77758287..77760412,2	K562	blood:

Variant related genes	Relation type
ENSG00000154027	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1010195	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10493604	0.87[EUR][1000 genomes]
rs12091579	0.83[ASN][1000 genomes]
rs12095740	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12404374	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12407610	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1377732	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1377735	0.85[EUR][1000 genomes]
rs1592340	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17100308	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17100429	0.85[EUR][1000 genomes]
rs2272161	0.96[ASN][1000 genomes]
rs2815321	0.91[ASN][1000 genomes]
rs2815322	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34422174	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59559185	0.85[EUR][1000 genomes]
rs72641172	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72641173	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72641174	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72641176	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs940283	0.85[EUR][1000 genomes];0.91[ASN][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	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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77749000-77779200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:77749200-77754800	Weak transcription	HSMMtube	muscle
3	chr1:77749200-77778400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:77749400-77754600	Weak transcription	Osteobl	bone
5	chr1:77749400-77755600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:77749400-77781600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:77749800-77754000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:77749800-77768800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:77750000-77753800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:77750000-77753800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:77750000-77757400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:77750400-77754000	Weak transcription	Brain Angular Gyrus	brain
13	chr1:77750600-77754400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:77750600-77772400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:77750800-77768200	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr1:77751000-77757400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:77751000-77767600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:77751200-77754000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:77751200-77757800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:77751400-77754600	Weak transcription	NHLF	lung
21	chr1:77751400-77764600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr1:77751600-77753800	Weak transcription	HUVEC	blood vessel
23	chr1:77752200-77756400	Weak transcription	Brain Hippocampus Middle	brain
24	chr1:77752600-77757200	Strong transcription	HSMM	muscle
25	chr1:77753200-77754200	Enhancers	Brain Anterior Caudate	brain
26	chr1:77753400-77753800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:77753400-77755000	Genic enhancers	NHDF-Ad	bronchial
28	chr1:77753400-77755200	Strong transcription	Primary T cells from cord blood	blood
29	chr1:77753400-77757600	Weak transcription	Brain Substantia Nigra	brain

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