Variant report

Variant	rs3768843
Chromosome Location	chr2:183701308-183701309
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:183695751..183697908-chr2:183701079..183703543,2	K562	blood:
2	chr2:183700483..183702944-chr2:183767110..183769629,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12624120	0.93[ASN][1000 genomes]
rs3768841	0.93[ASN][1000 genomes]
rs57018234	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2756954	chr2:183528670-183764930	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv34847	chr2:183537399-183786763	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	esv3693445	chr2:183542825-183725221	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1006265	chr2:183666013-183777604	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv536071	chr2:183666013-183777604	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	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	chr2:183689800-183719200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:183691800-183704800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:183692200-183704600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:183693200-183705200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:183697600-183703000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:183697800-183704600	Weak transcription	Aorta	Aorta
7	chr2:183699600-183701400	Weak transcription	Fetal Thymus	thymus
8	chr2:183700400-183702400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:183701000-183701600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:183701000-183701600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:183701000-183702000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr2:183701200-183701400	Enhancers	Brain Cingulate Gyrus	brain
13	chr2:183701200-183701400	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr2:183701200-183701400	Enhancers	Fetal Heart	heart
15	chr2:183701200-183701400	Bivalent Enhancer	HMEC	breast
16	chr2:183701200-183701600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:183701200-183701800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:183701200-183701800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:183701200-183701800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:183701200-183701800	Enhancers	Fetal Stomach	stomach
21	chr2:183701200-183702000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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