Variant report

Variant	rs13414080
Chromosome Location	chr2:47510685-47510686
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10204202	0.80[YRI][hapmap]
rs10206713	0.82[YRI][hapmap]
rs13383554	0.82[YRI][hapmap]
rs13386635	0.82[YRI][hapmap]
rs13412502	0.82[YRI][hapmap]
rs13413278	0.82[YRI][hapmap]
rs7560219	1.00[AFR][1000 genomes]

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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv457385	chr2:47468331-47552277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv581755	chr2:47468331-47552277	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47499600-47514400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:47500000-47511800	Weak transcription	Thymus	Thymus
3	chr2:47501400-47516000	Weak transcription	Stomach Mucosa	stomach
4	chr2:47502000-47517200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:47502600-47513000	Weak transcription	Brain Anterior Caudate	brain
6	chr2:47503600-47511800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:47506800-47514200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:47508000-47512400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:47509200-47511000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:47509400-47511400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:47509600-47510800	ZNF genes & repeats	Fetal Intestine Small	intestine
12	chr2:47509800-47514600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:47509800-47514800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:47510400-47514000	Weak transcription	A549	lung
15	chr2:47510400-47514400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:47510600-47510800	Enhancers	Brain Angular Gyrus	brain
17	chr2:47510600-47511400	Enhancers	Colon Smooth Muscle	Colon
18	chr2:47510600-47511600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:47510600-47512000	Enhancers	Brain Substantia Nigra	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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