Variant report

Variant	rs57683597
Chromosome Location	chr2:11676467-11676468
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	chr2:11676004-11676468	MCF-7	breast:	n/a	n/a
2	GATA3	chr2:11675731-11676586	MCF-7	breast:	n/a	chr2:11676523-11676531
3	GATA2	chr2:11675810-11676533	SH-SY5Y	brain:	n/a	chr2:11676523-11676531
4	MAX	chr2:11675782-11676649	MCF-7	breast:	n/a	n/a
5	TEAD4	chr2:11675837-11676524	HepG2	liver:	n/a	n/a
6	MYC	chr2:11676288-11676477	MCF-7	breast:	n/a	n/a
7	E2F6	chr2:11676272-11676497	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr2:11676254-11676467	MCF-7	breast:	n/a	n/a
9	MXI1	chr2:11675384-11677118	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr2:11676126-11676545	MCF-7	breast:	n/a	n/a
11	POLR2A	chr2:11675884-11676719	MCF-7	breast:	n/a	n/a
12	MYC	chr2:11676235-11676477	MCF-7	breast:	n/a	n/a
13	POLR2A	chr2:11676452-11676509	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:11675317..11677921-chr2:11682252..11684194,3	K562	blood:
2	chr2:10861240..10863397-chr2:11676243..11678247,2	MCF-7	breast:
3	chr15:65480056..65482247-chr2:11674473..11676860,2	MCF-7	breast:

Variant related genes	Relation type
GREB1	TF binding region
ENSG00000196208	Chromatin interaction
ENSG00000143882	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs56393100	1.00[AMR][1000 genomes]
rs61394202	1.00[AMR][1000 genomes]
rs73915405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915408	1.00[AMR][1000 genomes]
rs73915414	1.00[AMR][1000 genomes]
rs73915415	1.00[AMR][1000 genomes]
rs73917204	1.00[AMR][1000 genomes]
rs73917243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73917246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73917247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv873663	chr2:11664349-11783775	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11665000-11678000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:11669400-11678000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:11671200-11676800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr2:11671200-11679600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:11671400-11679200	Weak transcription	Right Atrium	heart
6	chr2:11672400-11676800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr2:11672400-11678200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:11672400-11679400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:11672400-11679800	Enhancers	Pancreas	Pancrea
10	chr2:11672800-11679400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:11673000-11679600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:11673600-11679400	Weak transcription	Brain Angular Gyrus	brain
13	chr2:11673600-11679400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:11673600-11679400	Enhancers	Ovary	ovary
15	chr2:11674000-11679400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:11674400-11679200	Weak transcription	Liver	Liver
17	chr2:11674400-11679200	Weak transcription	Brain Hippocampus Middle	brain
18	chr2:11674600-11679600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:11675000-11678000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:11675200-11676600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:11675400-11678000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:11675400-11678000	Weak transcription	Right Ventricle	heart
23	chr2:11675400-11679600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:11675400-11679600	Weak transcription	Fetal Heart	heart
25	chr2:11676000-11676600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:11676000-11676600	Genic enhancers	HepG2	liver
27	chr2:11676000-11676800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:11676200-11676600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:11676400-11678000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:11676400-11679200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:11676400-11679200	Weak transcription	Left Ventricle	heart
32	chr2:11676400-11679400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:11676400-11679600	Weak transcription	Psoas Muscle	Psoas
34	chr2:11676400-11681800	Weak transcription	Gastric	stomach

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