Variant report

Variant	rs9900497
Chromosome Location	chr17:19617393-19617394
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1006556	0.81[JPT][hapmap]
rs12451902	0.83[ASN][1000 genomes]
rs12943590	0.83[ASN][1000 genomes]
rs16960360	0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2072327	0.80[JPT][hapmap]
rs2228100	0.81[JPT][hapmap]
rs35263947	0.84[EUR][1000 genomes]
rs4646785	0.80[JPT][hapmap]
rs4924792	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4925045	0.83[CHB][hapmap];0.83[ASN][1000 genomes]
rs758426	0.83[ASN][1000 genomes]
rs9897570	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[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	nsv482827	chr17:19456848-19645771	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1063892	chr17:19564634-19808485	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv907866	chr17:19582533-19697976	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv1807724	chr17:19597423-19656009	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv907867	chr17:19603060-19697976	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	esv1793043	chr17:19604821-19670329	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv526290	chr17:19613357-19651482	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	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	chr17:19607200-19619800	Weak transcription	Spleen	Spleen
2	chr17:19607600-19627400	Weak transcription	Right Atrium	heart
3	chr17:19608800-19619800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr17:19610600-19617800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr17:19610600-19619400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr17:19610800-19619400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr17:19611000-19618600	Weak transcription	Brain Anterior Caudate	brain
8	chr17:19611000-19619400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr17:19611200-19619800	Weak transcription	Fetal Intestine Large	intestine
10	chr17:19612600-19617800	Weak transcription	Esophagus	oesophagus
11	chr17:19612800-19619600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr17:19613600-19617600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr17:19613600-19617600	Weak transcription	HepG2	liver
14	chr17:19616200-19621400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr17:19617000-19617400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr17:19617000-19618400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr17:19617200-19618000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr17:19617200-19619400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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