Variant report

Variant	rs73917247
Chromosome Location	chr2:11671459-11671460
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr2:11670643-11671636	MCF-7	breast:	n/a	n/a
2	PML	chr2:11670900-11671545	MCF-7	breast:	n/a	chr2:11671086-11671094
3	NR2F2	chr2:11670835-11671594	MCF-7	breast:	n/a	n/a
4	EP300	chr2:11670789-11671586	MCF-7	breast:	n/a	n/a
5	JUND	chr2:11670934-11671592	MCF-7	breast:	n/a	n/a
6	ESR1	chr2:11671147-11671467	T-47D	breast:	n/a	chr2:11671267-11671282
7	HDAC2	chr2:11670804-11671587	MCF-7	breast:	n/a	n/a
8	JUND	chr2:11670901-11671600	MCF-7	breast:	n/a	n/a
9	SRF	chr2:11670896-11671663	MCF-7	breast:	n/a	n/a
10	REST	chr2:11671062-11671521	MCF-7	breast:	n/a	chr2:11671387-11671395
11	JUND	chr2:11671011-11671612	T-47D	breast:	n/a	n/a
12	GATA3	chr2:11671046-11671510	MCF-7	breast:	n/a	n/a
13	TCF12	chr2:11670684-11671644	MCF-7	breast:	n/a	n/a
14	TCF7L2	chr2:11670735-11671648	MCF-7	breast:	n/a	n/a
15	POLR2A	chr2:11670574-11673676	MCF-7	breast:	n/a	n/a
16	EP300	chr2:11670809-11671609	MCF-7	breast:	n/a	n/a
17	ESR1	chr2:11670937-11671542	T-47D	breast:	n/a	chr2:11671267-11671282
18	HA-E2F1	chr2:11670951-11671557	MCF-7	breast:	n/a	n/a
19	FOXM1	chr2:11670778-11671620	MCF-7	breast:	n/a	n/a
20	TCF12	chr2:11670757-11671589	MCF-7	breast:	n/a	n/a
21	TEAD4	chr2:11671031-11671553	MCF-7	breast:	n/a	n/a
22	EP300	chr2:11671031-11671488	T-47D	breast:	n/a	n/a
23	RAD21	chr2:11670951-11671591	MCF-7	breast:	n/a	n/a
24	GATA3	chr2:11671102-11671499	MCF-7	breast:	n/a	n/a
25	MAX	chr2:11670854-11671549	MCF-7	breast:	n/a	n/a
26	ELF1	chr2:11670943-11671547	MCF-7	breast:	n/a	n/a
27	SIN3AK20	chr2:11670824-11671658	MCF-7	breast:	n/a	n/a
28	GATA3	chr2:11670699-11671600	MCF-7	breast:	n/a	n/a
29	ESR1	chr2:11671038-11671517	T-47D	breast:	n/a	chr2:11671267-11671282
30	HDAC2	chr2:11670943-11671604	MCF-7	breast:	n/a	n/a
31	MYC	chr2:11671041-11671498	MCF-7	breast:	n/a	n/a
32	MYC	chr2:11671082-11671473	MCF-7	breast:	n/a	n/a
33	SIN3AK20	chr2:11670702-11671784	MCF-7	breast:	n/a	n/a
34	FOXM1	chr2:11670731-11671737	MCF-7	breast:	n/a	n/a
35	EGR1	chr2:11670962-11671588	MCF-7	breast:	n/a	n/a
36	CEBPB	chr2:11670846-11671572	MCF-7	breast:	n/a	n/a
37	FOSL2	chr2:11670973-11671636	MCF-7	breast:	n/a	n/a
38	ESR1	chr2:11670992-11671551	T-47D	breast:	n/a	chr2:11671267-11671282
39	RAD21	chr2:11670793-11671624	MCF-7	breast:	n/a	n/a
40	ESR1	chr2:11671004-11671540	T-47D	breast:	n/a	chr2:11671267-11671282
41	GATA3	chr2:11670750-11671703	MCF-7	breast:	n/a	n/a
42	ZNF217	chr2:11670829-11671569	MCF-7	breast:	n/a	n/a
43	NR2F2	chr2:11670975-11671650	MCF-7	breast:	n/a	n/a
44	GABPA	chr2:11670908-11671578	MCF-7	breast:	n/a	n/a
45	TEAD4	chr2:11670959-11671614	MCF-7	breast:	n/a	n/a
46	ESR1	chr2:11670990-11671565	T-47D	breast:	n/a	chr2:11671267-11671282

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:11670704..11671849-chr2:11679327..11680569,63	MCF-7	breast:
2	chr2:11670272..11672993-chr20:52308680..52310728,2	MCF-7	breast:
3	chr2:11671059..11672742-chr2:20270351..20272377,2	MCF-7	breast:
4	chr2:11652487..11653480-chr2:11670844..11671576,4	MCF-7	breast:
5	chr2:11638386..11639271-chr2:11670833..11671706,9	MCF-7	breast:
6	chr12:52586456..52588653-chr2:11670748..11673207,2	MCF-7	breast:
7	chr2:11638352..11639390-chr2:11670749..11671791,101	MCF-7	breast:
8	chr16:89787043..89789965-chr2:11669655..11672342,2	MCF-7	breast:
9	chr2:11670485..11671826-chr2:11679327..11680595,48	MCF-7	breast:
10	chr2:11670998..11671898-chr2:11679630..11680266,3	MCF-7	breast:
11	chr2:11272147..11274930-chr2:11671339..11675156,3	MCF-7	breast:
12	chr2:11671144..11672993-chr2:11680123..11682594,2	K562	blood:
13	chr2:11638257..11639380-chr2:11670789..11671791,60	MCF-7	breast:
14	chr2:11670047..11672634-chr6:32937032..32938585,2	MCF-7	breast:
15	chr2:11671380..11672993-chr2:11681094..11683884,2	K562	blood:
16	chr2:11670794..11671804-chr2:11679323..11680538,11	MCF-7	breast:
17	chr2:11670481..11672921-chr2:11803900..11805580,2	MCF-7	breast:
18	chr2:11638361..11639377-chr2:11670739..11671799,32	MCF-7	breast:
19	chr2:11670570..11676286-chr2:11818745..11824828,7	MCF-7	breast:
20	chr2:11642494..11643135-chr2:11670788..11671774,2	MCF-7	breast:
21	chr2:11670624..11672438-chr20:52740971..52743291,2	MCF-7	breast:
22	chr2:11638607..11639241-chr2:11670788..11671586,3	MCF-7	breast:
23	chr2:11671004..11673308-chr2:20648459..20650037,2	MCF-7	breast:
24	chr2:11652624..11653481-chr2:11670844..11671697,3	MCF-7	breast:
25	chr2:11671113..11672841-chr2:11917292..11919829,2	MCF-7	breast:
26	chr2:11669797..11672713-chr6:27100529..27102950,2	MCF-7	breast:

No data

Variant related genes	Relation type
GREB1	TF binding region
ENSG00000145063	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000075399	Chromatin interaction
ENSG00000134324	Chromatin interaction
ENSG00000158805	Chromatin interaction
ENSG00000264010	Chromatin interaction
ENSG00000228496	Chromatin interaction
ENSG00000196208	Chromatin interaction
ENSG00000223837	Chromatin interaction
ENSG00000150873	Chromatin interaction
ENSG00000196787	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]
rs57683597	1.00[AFR][1000 genomes];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]

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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11656200-11672800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:11664600-11676200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:11665000-11672200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:11665000-11678000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:11666200-11672400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:11666600-11672400	Weak transcription	Brain Angular Gyrus	brain
7	chr2:11667400-11674600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:11667800-11672600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:11669400-11678000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:11670400-11672200	Enhancers	Ovary	ovary
11	chr2:11670400-11675800	Enhancers	HepG2	liver
12	chr2:11670800-11672000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:11671000-11671600	Enhancers	Psoas Muscle	Psoas
14	chr2:11671200-11672000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:11671200-11676800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr2:11671200-11679600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:11671400-11671800	Weak transcription	Hela-S3	cervix
18	chr2:11671400-11672400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:11671400-11672400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:11671400-11672400	Weak transcription	Pancreas	Pancrea
21	chr2:11671400-11672400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:11671400-11672600	Weak transcription	Brain Substantia Nigra	brain
23	chr2:11671400-11674600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr2:11671400-11674600	Weak transcription	Fetal Muscle Leg	muscle
25	chr2:11671400-11674600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:11671400-11679200	Weak transcription	Right Atrium	heart

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