Variant report

Variant	rs74121380
Chromosome Location	chr1:168743067-168743068
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	chr1:168742807..168744829-chr1:168753851..168756396,2	MCF-7	breast:
2	chr1:168678469..168680348-chr1:168740561..168743159,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225826	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12401569	1.00[EUR][1000 genomes]
rs12401592	1.00[EUR][1000 genomes]
rs12403860	1.00[EUR][1000 genomes]
rs12411200	1.00[EUR][1000 genomes]
rs35915405	1.00[EUR][1000 genomes]
rs56168358	1.00[EUR][1000 genomes]
rs57187559	1.00[EUR][1000 genomes]
rs58493284	1.00[EUR][1000 genomes]
rs58987681	1.00[EUR][1000 genomes]
rs60429525	1.00[EUR][1000 genomes]
rs73028610	1.00[EUR][1000 genomes]
rs73032003	1.00[EUR][1000 genomes]
rs73042054	1.00[EUR][1000 genomes]
rs73042074	1.00[EUR][1000 genomes]
rs73042088	1.00[EUR][1000 genomes]
rs73042095	1.00[EUR][1000 genomes]
rs73043974	1.00[EUR][1000 genomes]
rs74121379	1.00[EUR][1000 genomes]
rs74122718	1.00[EUR][1000 genomes]
rs74122750	1.00[EUR][1000 genomes]
rs74122754	1.00[EUR][1000 genomes]
rs74122773	1.00[EUR][1000 genomes]
rs999310	1.00[EUR][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	chr1:168738000-168743400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:168738800-168745600	Weak transcription	Brain Germinal Matrix	brain
4	chr1:168741000-168744000	Enhancers	Liver	Liver
5	chr1:168741200-168743200	Weak transcription	Fetal Heart	heart
6	chr1:168741200-168744000	Enhancers	Rectal Smooth Muscle	rectum
7	chr1:168741200-168744200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:168741600-168743800	Enhancers	Fetal Lung	lung
9	chr1:168741800-168744000	Enhancers	Adipose Nuclei	Adipose
10	chr1:168741800-168744000	Enhancers	Fetal Muscle Leg	muscle
11	chr1:168742000-168743400	Weak transcription	Ovary	ovary
12	chr1:168742000-168743800	Enhancers	Colon Smooth Muscle	Colon
13	chr1:168742400-168743400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:168742600-168743600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:168742600-168743600	Weak transcription	Fetal Stomach	stomach
16	chr1:168742600-168743600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr1:168742800-168744000	Enhancers	Left Ventricle	heart
18	chr1:168742800-168744000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr1:168743000-168743200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:168743000-168743800	Enhancers	Right Atrium	heart
21	chr1:168743000-168744000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:168743000-168744000	Enhancers	Fetal Intestine Small	intestine
23	chr1:168743000-168744000	Enhancers	Lung	lung
24	chr1:168743000-168744000	Enhancers	HepG2	liver

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