Variant report

Variant	rs57616891
Chromosome Location	chr14:81714265-81714266
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr14:81713334-81714298	MCF-7	breast:	n/a	n/a
2	SIN3AK20	chr14:81713032-81714507	MCF-7	breast:	n/a	n/a
3	HDAC2	chr14:81713326-81714322	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:81685898..81688626-chr14:81711867..81715225,3	K562	blood:
2	chr14:81683519..81693455-chr14:81706363..81723125,33	MCF-7	breast:
3	chr14:81682255..81691444-chr14:81709014..81722196,43	MCF-7	breast:

Variant related genes	Relation type
DYNLL1P1	TF binding region
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs3210528	1.00[AMR][1000 genomes]
rs55912375	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56029379	1.00[AMR][1000 genomes]
rs56939581	1.00[AMR][1000 genomes]
rs60127836	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60303104	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60359782	1.00[AMR][1000 genomes]
rs61159018	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs61175070	1.00[AMR][1000 genomes]
rs73342260	1.00[AMR][1000 genomes]
rs73342267	1.00[AMR][1000 genomes]
rs73344360	1.00[AMR][1000 genomes]
rs73344387	1.00[AMR][1000 genomes]
rs73346388	1.00[AMR][1000 genomes]
rs74067426	0.90[AMR][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	nsv832841	chr14:81588322-81743921	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	diseases
2	nsv902118	chr14:81679650-81715989	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS 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	84 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81711600-81722000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:81711800-81714600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:81712000-81714400	Enhancers	NHDF-Ad	bronchial
4	chr14:81712200-81714400	Enhancers	Fetal Muscle Trunk	muscle
5	chr14:81712600-81714600	Flanking Active TSS	HSMM	muscle
6	chr14:81712800-81714600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:81712800-81714600	Enhancers	Fetal Muscle Leg	muscle
8	chr14:81712800-81714800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:81712800-81714800	Enhancers	HSMMtube	muscle
10	chr14:81713000-81714400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:81713000-81714600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:81713400-81714600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
13	chr14:81713400-81714800	Enhancers	Placenta	Placenta
14	chr14:81713600-81714600	Enhancers	Pancreas	Pancrea
15	chr14:81713600-81715200	Enhancers	Dnd41	blood
16	chr14:81713800-81714400	Enhancers	Gastric	stomach
17	chr14:81713800-81714400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
18	chr14:81714000-81725600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:81714000-81725800	Weak transcription	NHEK	skin
20	chr14:81714200-81714800	Enhancers	Thymus	Thymus
21	chr14:81714200-81725600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:81714200-81726000	Weak transcription	HMEC	breast
23	chr14:81714200-81738600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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