Variant report

Variant	rs56983268
Chromosome Location	chr2:47768697-47768698
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs17036586	1.00[AMR][1000 genomes]
rs17036616	1.00[AMR][1000 genomes]
rs17039236	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17217849	1.00[AMR][1000 genomes]
rs17217961	1.00[AMR][1000 genomes]
rs17218648	1.00[AMR][1000 genomes]
rs17224122	1.00[AMR][1000 genomes]
rs17224724	1.00[AMR][1000 genomes]
rs17224738	1.00[AMR][1000 genomes]
rs17224815	1.00[AMR][1000 genomes]
rs1800151	1.00[AMR][1000 genomes]
rs55815447	1.00[AMR][1000 genomes]
rs55905016	1.00[AMR][1000 genomes]
rs56076616	1.00[AMR][1000 genomes]
rs56958162	1.00[AMR][1000 genomes]
rs57972954	1.00[AMR][1000 genomes]
rs58012164	1.00[AMR][1000 genomes]
rs58080795	1.00[AMR][1000 genomes]
rs58930161	1.00[AMR][1000 genomes]
rs60121180	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60512750	1.00[AMR][1000 genomes]
rs61282650	1.00[AMR][1000 genomes]
rs61635665	1.00[AMR][1000 genomes]
rs72882783	1.00[AMR][1000 genomes]
rs72882786	1.00[AMR][1000 genomes]
rs72882796	1.00[AMR][1000 genomes]
rs72882802	1.00[AMR][1000 genomes]
rs72884625	1.00[AMR][1000 genomes]
rs72884632	1.00[AMR][1000 genomes]
rs72884676	1.00[AMR][1000 genomes]
rs72886304	1.00[AMR][1000 genomes]
rs72886358	1.00[AMR][1000 genomes]
rs72888237	1.00[AMR][1000 genomes]
rs72888238	1.00[AMR][1000 genomes]
rs72888263	1.00[AMR][1000 genomes]
rs73927801	1.00[AMR][1000 genomes]
rs73927802	1.00[AMR][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	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv998314	chr2:47720420-47959168	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv817599	chr2:47738456-47961099	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47743600-47778200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:47748800-47772800	Weak transcription	Gastric	stomach
3	chr2:47749000-47771000	Weak transcription	Ovary	ovary
4	chr2:47756400-47771400	Weak transcription	Brain Germinal Matrix	brain
5	chr2:47757600-47772400	Weak transcription	Right Atrium	heart
6	chr2:47761400-47768800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:47762000-47770200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:47762000-47778400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:47762000-47784800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:47762600-47770400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:47762800-47770200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:47762800-47778800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:47763400-47770000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:47763800-47785400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:47764200-47771400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:47767200-47770800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:47767600-47772400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:47767800-47770200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:47768200-47769000	Enhancers	Fetal Stomach	stomach
20	chr2:47768200-47769600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:47768200-47771200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
22	chr2:47768400-47770200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:47768600-47769000	Enhancers	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links