Variant report

Variant	rs12401569
Chromosome Location	chr1:168737091-168737092
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	chr1:168735121..168737142-chr1:169074558..169076672,2	MCF-7	breast:
2	chr1:168735904..168737814-chr1:168742355..168744787,2	K562	blood:

Variant related genes	Relation type
ENSG00000143153	Chromatin interaction
ENSG00000235736	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11577775	0.88[ASN][1000 genomes]
rs12401592	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12403860	1.00[EUR][1000 genomes]
rs12410077	0.88[ASN][1000 genomes]
rs12411200	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35915405	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56168358	1.00[EUR][1000 genomes]
rs57187559	1.00[EUR][1000 genomes]
rs58493284	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58987681	1.00[EUR][1000 genomes]
rs60429525	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	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs74121380	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];0.88[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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168730000-168737200	Weak transcription	Left Ventricle	heart
2	chr1:168730400-168743600	Weak transcription	Psoas Muscle	Psoas
3	chr1:168733600-168737200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:168734200-168739200	Enhancers	Fetal Lung	lung
5	chr1:168735200-168737600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr1:168735600-168739200	Enhancers	Fetal Heart	heart
7	chr1:168736200-168737200	Weak transcription	Liver	Liver
8	chr1:168736200-168738000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:168736200-168741800	Weak transcription	Stomach Mucosa	stomach
10	chr1:168736200-168743000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:168736600-168737200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr1:168736800-168737600	Enhancers	NHEK	skin
13	chr1:168736800-168737800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:168736800-168737800	Enhancers	HepG2	liver
15	chr1:168736800-168738000	Enhancers	Rectal Smooth Muscle	rectum
16	chr1:168736800-168738600	Enhancers	Colon Smooth Muscle	Colon
17	chr1:168737000-168737400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:168737000-168737400	Enhancers	Aorta	Aorta
19	chr1:168737000-168737400	Enhancers	Right Atrium	heart
20	chr1:168737000-168737400	Enhancers	Right Ventricle	heart
21	chr1:168737000-168737400	Enhancers	HMEC	breast
22	chr1:168737000-168737800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:168737000-168737800	Enhancers	Adipose Nuclei	Adipose
24	chr1:168737000-168737800	Enhancers	NHDF-Ad	bronchial
25	chr1:168737000-168738000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr1:168737000-168738200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr1:168737000-168738600	Enhancers	Fetal Muscle Leg	muscle
28	chr1:168737000-168738800	Enhancers	Fetal Stomach	stomach

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