Variant report

Variant	rs57744915
Chromosome Location	chr14:70316224-70316225
allele	A/G
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	chr14:70315643-70316234	HepG2	liver:	n/a	chr14:70316083-70316091 chr14:70316085-70316094 chr14:70316084-70316095
2	MAX	chr14:70315516-70316296	MCF-7	breast:	n/a	chr14:70316083-70316091 chr14:70316085-70316094 chr14:70316084-70316095
3	NR2F2	chr14:70315443-70316339	MCF-7	breast:	n/a	chr14:70315977-70315992
4	MAX	chr14:70315589-70316245	HepG2	liver:	n/a	chr14:70316083-70316091 chr14:70316085-70316094 chr14:70316084-70316095
5	SIN3AK20	chr14:70315494-70316261	MCF-7	breast:	n/a	n/a
6	GATA3	chr14:70315431-70316328	MCF-7	breast:	n/a	chr14:70315507-70315518 chr14:70315473-70315486
7	POLR2A	chr14:70315656-70317692	HepG2	liver:	n/a	n/a
8	GATA3	chr14:70315463-70316312	MCF-7	breast:	n/a	chr14:70315507-70315518 chr14:70315473-70315486
9	MXI1	chr14:70315611-70316252	HepG2	liver:	n/a	n/a
10	KAP1	chr14:70315531-70316288	U2OS	brain:	n/a	n/a
11	HDAC2	chr14:70315538-70316235	MCF-7	breast:	n/a	n/a
12	SETDB1	chr14:70315609-70316240	U2OS	brain:	n/a	n/a
13	POLR2A	chr14:70315812-70317406	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70314565..70316766-chr14:70494055..70496568,2	MCF-7	breast:

Variant related genes	Relation type
SMOC1	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs58971840	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59829736	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7160799	0.84[AFR][1000 genomes]
rs72725796	0.84[AFR][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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70311200-70316800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:70312600-70316400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr14:70313200-70318200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:70315000-70316400	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr14:70315000-70316800	Enhancers	Placenta	Placenta
6	chr14:70315000-70317400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:70315200-70316400	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr14:70315200-70316600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr14:70315200-70316600	Enhancers	Psoas Muscle	Psoas
10	chr14:70315200-70316600	Enhancers	Hela-S3	cervix
11	chr14:70315200-70316800	Enhancers	Brain Germinal Matrix	brain
12	chr14:70315200-70316800	Enhancers	Fetal Muscle Leg	muscle
13	chr14:70315600-70316600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:70315800-70316600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:70315800-70317400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:70316000-70316600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:70316000-70316600	Weak transcription	Liver	Liver
18	chr14:70316000-70316800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:70316000-70316800	Flanking Active TSS	HepG2	liver
20	chr14:70316200-70316400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr14:70316200-70316600	Enhancers	Fetal Brain Female	brain
22	chr14:70316200-70317000	Enhancers	HSMMtube	muscle
23	chr14:70316200-70320000	Enhancers	Fetal Brain Male	brain

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