Variant report

Variant	rs10800380
Chromosome Location	chr1:168741818-168741819
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:168678469..168680348-chr1:168740561..168743159,2	MCF-7	breast:
2	chr1:168740071..168742084-chr1:168874294..168876430,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10158946	0.94[EUR][1000 genomes]
rs10918977	0.94[TSI][hapmap]
rs10918979	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10918981	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11577775	0.80[AFR][1000 genomes]
rs11801939	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12060876	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12063208	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12065214	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861509	1.00[JPT][hapmap]
rs4656615	0.94[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes]
rs59684779	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168730400-168743600	Weak transcription	Psoas Muscle	Psoas
2	chr1:168736200-168743000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:168738000-168742800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr1:168738000-168743000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:168738000-168743400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:168738200-168742200	Weak transcription	Left Ventricle	heart
7	chr1:168738600-168742000	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:168738800-168745600	Weak transcription	Brain Germinal Matrix	brain
9	chr1:168740800-168742200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:168741000-168744000	Enhancers	Liver	Liver
11	chr1:168741200-168743200	Weak transcription	Fetal Heart	heart
12	chr1:168741200-168744000	Enhancers	Rectal Smooth Muscle	rectum
13	chr1:168741200-168744200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:168741600-168743800	Enhancers	Fetal Lung	lung
15	chr1:168741800-168742000	Enhancers	Fetal Intestine Small	intestine
16	chr1:168741800-168742000	Enhancers	Ovary	ovary
17	chr1:168741800-168742000	Enhancers	Stomach Mucosa	stomach
18	chr1:168741800-168742400	Enhancers	HepG2	liver
19	chr1:168741800-168742600	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr1:168741800-168742600	Enhancers	Fetal Stomach	stomach
21	chr1:168741800-168742600	Enhancers	Small Intestine	intestine
22	chr1:168741800-168742600	Enhancers	Stomach Smooth Muscle	stomach
23	chr1:168741800-168744000	Enhancers	Adipose Nuclei	Adipose
24	chr1:168741800-168744000	Enhancers	Fetal Muscle Leg	muscle

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