Variant report

Variant	rs2284759
Chromosome Location	chr1:168341267-168341268
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16860403	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs16860434	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16860445	0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1886004	0.92[ASN][1000 genomes]
rs2076061	0.92[CHB][hapmap];0.89[CHD][hapmap];0.92[JPT][hapmap]
rs2223293	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2268561	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2268563	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2268565	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2268566	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2284758	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2284760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2284762	0.83[EUR][1000 genomes]
rs57956428	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831825	chr1:168179175-168353062	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1002007	chr1:168179463-168375973	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv872527	chr1:168327555-168375973	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1013200	chr1:168332730-168357759	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv818556	chr1:168338069-168343349	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv947510	chr1:168338528-168342341	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3452560	chr1:168339759-168343856	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3452561	chr1:168339932-168343722	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3452562	chr1:168339932-168343722	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv527576	chr1:168341267-168341866	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 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	chr1:168331200-168341800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:168336800-168341800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:168337200-168341600	Enhancers	K562	blood
4	chr1:168338000-168343000	Weak transcription	Aorta	Aorta
5	chr1:168338000-168343200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:168338200-168343400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:168338400-168348200	Weak transcription	HepG2	liver
8	chr1:168339400-168341400	Weak transcription	Placenta	Placenta
9	chr1:168340200-168341400	Enhancers	Fetal Stomach	stomach
10	chr1:168340400-168342200	Enhancers	Colon Smooth Muscle	Colon
11	chr1:168340400-168342200	Enhancers	Fetal Muscle Leg	muscle
12	chr1:168340600-168341400	Weak transcription	Right Ventricle	heart
13	chr1:168340800-168342200	Enhancers	Rectal Smooth Muscle	rectum
14	chr1:168340800-168342600	Enhancers	Right Atrium	heart
15	chr1:168341000-168342000	Weak transcription	Fetal Lung	lung
16	chr1:168341200-168341400	Enhancers	Spleen	Spleen
17	chr1:168341200-168341600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:168341200-168342800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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