Variant report

Variant	rs761519
Chromosome Location	chr1:168696354-168696355
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1018453	0.88[CEU][hapmap];0.91[CHB][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1018454	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10489362	0.89[CHB][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs1052591	0.88[CEU][hapmap];0.91[CHB][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10800378	0.88[ASN][1000 genomes]
rs10918970	0.81[ASN][1000 genomes]
rs12731369	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12735097	0.85[EUR][1000 genomes]
rs12739280	0.89[ASN][1000 genomes]
rs12748557	0.89[CEU][hapmap];0.84[CHB][hapmap];0.85[EUR][1000 genomes]
rs1555206	0.84[CHB][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1556790	0.87[CEU][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1556791	0.88[CEU][hapmap];0.91[CHB][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1556792	0.89[CEU][hapmap];0.84[CHB][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1556793	0.85[CEU][hapmap];0.91[CHB][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17569416	0.84[CHB][hapmap]
rs1765516	0.89[CEU][hapmap];0.84[CHB][hapmap];0.84[EUR][1000 genomes]
rs2744666	0.88[JPT][hapmap]
rs2786758	0.88[ASN][1000 genomes]
rs2786759	0.93[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs35723976	0.88[ASN][1000 genomes]
rs472668	0.84[CHB][hapmap]
rs485187	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs494189	1.00[JPT][hapmap]
rs534139	0.84[CHB][hapmap]
rs538714	0.84[CHB][hapmap]
rs542198	0.91[CHB][hapmap]
rs552859	1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs567067	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs582986	0.91[ASN][1000 genomes]
rs609629	0.84[EUR][1000 genomes]
rs610403	0.84[EUR][1000 genomes]
rs623949	0.84[EUR][1000 genomes]
rs627872	0.91[CHB][hapmap]
rs628718	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6427147	0.93[ASN][1000 genomes]
rs6427148	0.91[CHB][hapmap]
rs6427150	0.88[ASN][1000 genomes]
rs655128	0.84[CHB][hapmap]
rs6666079	0.84[EUR][1000 genomes]
rs6675239	0.89[ASN][1000 genomes]
rs6678818	0.83[EUR][1000 genomes]
rs6690929	0.88[ASN][1000 genomes]
rs6701299	0.84[CHB][hapmap]
rs731949	0.88[CEU][hapmap];0.91[CHB][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv831836	chr1:168538779-168716956	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv831847	chr1:168669877-168850129	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168689000-168697000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:168692600-168697000	Weak transcription	Pancreas	Pancrea
3	chr1:168692600-168698200	Weak transcription	Psoas Muscle	Psoas
4	chr1:168694000-168698600	Active TSS	Rectal Smooth Muscle	rectum
5	chr1:168694600-168697000	Enhancers	Fetal Stomach	stomach
6	chr1:168694600-168698800	Active TSS	Stomach Smooth Muscle	stomach
7	chr1:168694800-168699000	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr1:168695000-168698800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:168695600-168696400	Enhancers	Fetal Muscle Trunk	muscle
10	chr1:168695600-168696400	Flanking Active TSS	Fetal Muscle Leg	muscle
11	chr1:168695600-168696400	Enhancers	Ovary	ovary
12	chr1:168695600-168698400	Active TSS	Colon Smooth Muscle	Colon
13	chr1:168695600-168698400	Active TSS	Right Ventricle	heart
14	chr1:168695800-168696400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:168695800-168696400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:168695800-168696400	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr1:168695800-168696400	Enhancers	Lung	lung
18	chr1:168695800-168697200	Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr1:168695800-168698200	Active TSS	Right Atrium	heart
20	chr1:168696000-168697200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr1:168696000-168698000	Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr1:168696000-168701000	Weak transcription	Fetal Heart	heart
23	chr1:168696200-168696400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:168696200-168697800	Weak transcription	Placenta	Placenta
25	chr1:168696200-168698400	Active TSS	Fetal Intestine Small	intestine
26	chr1:168696200-168698400	Weak transcription	Fetal Lung	lung
27	chr1:168696200-168698400	Active TSS	Left Ventricle	heart

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