Variant report

Variant	rs3770018
Chromosome Location	chr2:178540804-178540805
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178128784..178131655-chr2:178537635..178541213,3	K562	blood:

Variant related genes	Relation type
ENSG00000222043	Chromatin interaction
ENSG00000116044	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10497494	0.82[JPT][hapmap]
rs10497495	0.82[JPT][hapmap]
rs1106074	0.82[JPT][hapmap]
rs11891283	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1527405	1.00[JPT][hapmap]
rs1527408	1.00[JPT][hapmap]
rs16865452	0.82[JPT][hapmap]
rs16865453	0.82[JPT][hapmap]
rs16865492	0.82[JPT][hapmap]
rs16865501	0.82[JPT][hapmap]
rs16865508	0.81[JPT][hapmap]
rs16865509	0.82[JPT][hapmap]
rs16865514	0.82[JPT][hapmap]
rs16865524	1.00[JPT][hapmap]
rs2178018	0.82[JPT][hapmap]
rs3770019	0.89[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3770020	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3770022	0.89[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60295960	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6745743	0.82[JPT][hapmap]
rs6746845	1.00[JPT][hapmap]
rs73979516	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7562940	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9288008	0.89[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9677333	0.89[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9677970	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv431812	chr2:178525371-178584470	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1007925	chr2:178535922-178577002	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv275124	chr2:178538584-178541159	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178535000-178544800	Weak transcription	Right Atrium	heart
2	chr2:178536000-178544600	Weak transcription	Psoas Muscle	Psoas
3	chr2:178536600-178556000	Weak transcription	Pancreas	Pancrea
4	chr2:178539800-178541800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:178540000-178541400	Enhancers	Colon Smooth Muscle	Colon
6	chr2:178540000-178541400	Enhancers	Ovary	ovary
7	chr2:178540000-178541400	Enhancers	Rectal Smooth Muscle	rectum
8	chr2:178540000-178547400	Enhancers	Fetal Kidney	kidney
9	chr2:178540200-178541400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:178540200-178544600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:178540400-178541000	Enhancers	Fetal Stomach	stomach
12	chr2:178540400-178541400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:178540600-178541400	Enhancers	Brain Anterior Caudate	brain
14	chr2:178540600-178541400	Enhancers	Brain Cingulate Gyrus	brain
15	chr2:178540600-178541400	Enhancers	Brain Hippocampus Middle	brain
16	chr2:178540600-178541400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr2:178540600-178541600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:178540600-178541600	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr2:178540600-178541800	Enhancers	Brain Angular Gyrus	brain
20	chr2:178540600-178544600	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:178540800-178541600	Enhancers	Brain Substantia Nigra	brain

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