Variant report

Variant	rs485187
Chromosome Location	chr1:168697384-168697385
allele	A/G
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:17)

rs_ID	r²[population]
rs1018454	0.85[ASN][1000 genomes]
rs10489362	0.92[JPT][hapmap]
rs10800378	0.81[EUR][1000 genomes]
rs10918972	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2744666	0.86[ASW][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];0.83[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2786759	0.84[CEU][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes]
rs2786763	0.87[AFR][1000 genomes]
rs494189	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs536014	1.00[LWK][hapmap]
rs552859	0.94[JPT][hapmap]
rs567067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs628718	0.86[ASW][hapmap];0.94[CEU][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6427147	0.85[EUR][1000 genomes]
rs6427150	0.81[EUR][1000 genomes]
rs6675239	0.83[EUR][1000 genomes]
rs6690929	0.81[EUR][1000 genomes]
rs761519	1.00[JPT][hapmap];0.85[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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168692600-168698200	Weak transcription	Psoas Muscle	Psoas
2	chr1:168694000-168698600	Active TSS	Rectal Smooth Muscle	rectum
3	chr1:168694600-168698800	Active TSS	Stomach Smooth Muscle	stomach
4	chr1:168694800-168699000	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr1:168695000-168698800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:168695600-168698400	Active TSS	Colon Smooth Muscle	Colon
7	chr1:168695600-168698400	Active TSS	Right Ventricle	heart
8	chr1:168695800-168698200	Active TSS	Right Atrium	heart
9	chr1:168696000-168698000	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr1:168696000-168701000	Weak transcription	Fetal Heart	heart
11	chr1:168696200-168697800	Weak transcription	Placenta	Placenta
12	chr1:168696200-168698400	Active TSS	Fetal Intestine Small	intestine
13	chr1:168696200-168698400	Weak transcription	Fetal Lung	lung
14	chr1:168696200-168698400	Active TSS	Left Ventricle	heart
15	chr1:168696400-168697600	Weak transcription	Ovary	ovary
16	chr1:168696400-168697800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:168696400-168698000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:168696800-168697400	Flanking Active TSS	Fetal Muscle Trunk	muscle
19	chr1:168697000-168697400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:168697000-168697400	Flanking Active TSS	Fetal Muscle Leg	muscle
21	chr1:168697000-168697400	Flanking Active TSS	Fetal Stomach	stomach
22	chr1:168697000-168697400	Active TSS	Placenta Amnion	Placenta Amnion
23	chr1:168697000-168699200	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr1:168697200-168697400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr1:168697200-168697600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:168697200-168697600	Bivalent Enhancer	HepG2	liver
27	chr1:168697200-168698400	Active TSS	Fetal Intestine Large	intestine
28	chr1:168697200-168698400	Active TSS	Rectal Mucosa Donor 29	rectum

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