Variant report

Variant	rs7212691
Chromosome Location	chr17:44967908-44967909
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10491148	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11871306	1.00[CEU][hapmap]
rs1638450	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs16941271	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16941273	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16941300	1.00[CEU][hapmap]
rs16941306	1.00[CEU][hapmap]
rs16941312	1.00[CEU][hapmap]
rs16941317	1.00[CEU][hapmap]
rs16941318	1.00[CEU][hapmap]
rs16941324	1.00[CEU][hapmap]
rs16941390	1.00[CEU][hapmap]
rs197910	0.90[EUR][1000 genomes]
rs197931	0.90[EUR][1000 genomes]
rs197935	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs197937	0.90[EUR][1000 genomes]
rs197944	0.90[EUR][1000 genomes]
rs73985103	0.90[EUR][1000 genomes]
rs754474	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs8082211	1.00[CEU][hapmap]

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	esv3492820	chr17:44174959-45161556	Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3492821	chr17:44174959-45161556	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	esv3502492	chr17:44305975-45169159	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv3502493	chr17:44305975-45169159	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv531823	chr17:44485771-45067769	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv908562	chr17:44828931-45102413	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv949295	chr17:44836653-45080757	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
8	nsv428672	chr17:44872446-45023425	Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:44961600-44971600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr17:44964400-44968000	Enhancers	K562	blood
3	chr17:44965800-44969000	Enhancers	Spleen	Spleen
4	chr17:44966600-44968200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr17:44966800-44968000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr17:44966800-44968200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:44966800-44968200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr17:44967000-44968200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr17:44967000-44968800	Enhancers	Placenta	Placenta
10	chr17:44967200-44968200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:44967200-44968200	Enhancers	Lung	lung
12	chr17:44967400-44968200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr17:44967400-44968600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr17:44967800-44968000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
15	chr17:44967800-44968400	Enhancers	Primary hematopoietic stem cells	blood
16	chr17:44967800-44968600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr17:44967800-44968600	Bivalent Enhancer	HepG2	liver
18	chr17:44967800-44969200	Bivalent Enhancer	Adipose Nuclei	Adipose

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