Variant report

Variant	rs11824258
Chromosome Location	chr11:32442275-32442276
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	GATA3	chr11:32442273-32443070	T-47D	breast:	n/a	chr11:32442878-32442888 chr11:32442877-32442889 chr11:32442892-32442900
2	TCF12	chr11:32442183-32442788	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr11:32442252-32445401	K562	blood:	n/a	n/a
4	RELA	chr11:32442262-32443009	GM12891	blood:	n/a	n/a
5	GATA3	chr11:32442175-32443165	SK-N-SH	brain:	n/a	chr11:32442878-32442888 chr11:32442877-32442889 chr11:32442892-32442900
6	RFX5	chr11:32442217-32442702	K562	blood:	n/a	n/a
7	GATA3	chr11:32442262-32443415	T-47D	breast:	n/a	chr11:32442878-32442888 chr11:32443279-32443300 chr11:32442877-32442889 chr11:32442892-32442900
8	REST	chr11:32442258-32443016	PFSK-1	brain:	n/a	n/a
9	TCF12	chr11:32442250-32443158	SK-N-SH	brain:	n/a	n/a
10	CHD2	chr11:32442262-32442724	K562	blood:	n/a	n/a
11	NR2F2	chr11:32442247-32443430	K562	blood:	n/a	n/a
12	GATA1	chr11:32441707-32443572	PBDE	blood:	n/a	chr11:32442878-32442888 chr11:32443279-32443300 chr11:32442877-32442889 chr11:32442892-32442900
13	JUND	chr11:32442272-32443013	K562	blood:	n/a	n/a
14	POLR2A	chr11:32442198-32442949	PFSK-1	brain:	n/a	n/a
15	RUNX3	chr11:32442275-32443065	GM12878	blood:	n/a	n/a
16	TEAD4	chr11:32442227-32443096	K562	blood:	n/a	n/a
17	POLR2A	chr11:32442227-32443218	HL-60	blood:	n/a	n/a
18	BHLHE40	chr11:32442252-32443024	K562	blood:	n/a	n/a
19	TEAD4	chr11:32442243-32443156	K562	blood:	n/a	n/a
20	MYC	chr11:32442262-32443627	NB4	blood:	n/a	n/a
21	POLR2A	chr11:32442228-32443101	PFSK-1	brain:	n/a	n/a
22	JUND	chr11:32442236-32443686	T-47D	breast:	n/a	chr11:32443181-32443190
23	CBX3	chr11:32442259-32443020	K562	blood:	n/a	n/a
24	POLR2A	chr11:32442166-32443042	HL-60	blood:	n/a	n/a
25	GATA3	chr11:32442106-32443203	SK-N-SH	brain:	n/a	chr11:32442878-32442888 chr11:32442877-32442889 chr11:32442892-32442900
26	MAX	chr11:32442243-32443008	K562	blood:	n/a	n/a
27	STAT5A	chr11:32442262-32443006	K562	blood:	n/a	chr11:32442557-32442565 chr11:32442830-32442838

No.	Distal block	Cell Line	Cell type
1	chr11:32404442..32407230-chr11:32442115..32444001,2	K562	blood:
2	chr11:32440943..32443516-chr11:32607260..32609866,2	K562	blood:
3	chr11:32431798..32437144-chr11:32439795..32446613,10	K562	blood:
4	chr11:32441708..32444112-chr11:32605234..32608760,5	K562	blood:
5	chr11:32437656..32439428-chr11:32440957..32443152,2	K562	blood:

Variant related genes	Relation type
WT1	TF binding region
ENSG00000184937	Chromatin interaction
ENSG00000149100	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10767933	0.83[ASN][1000 genomes]
rs10767935	0.88[EUR][1000 genomes]
rs10835893	0.83[ASN][1000 genomes]
rs10835900	0.88[EUR][1000 genomes]
rs10835901	0.88[EUR][1000 genomes]
rs10835903	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10835904	0.87[ASN][1000 genomes]
rs10835905	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10835906	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11031769	0.88[EUR][1000 genomes]
rs11031770	0.86[EUR][1000 genomes]
rs12290546	0.87[ASN][1000 genomes]
rs16754	0.80[ASN][1000 genomes]
rs16923242	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1799937	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2234587	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2295081	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2295082	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3818055	0.89[ASN][1000 genomes]
rs3858440	0.88[EUR][1000 genomes]
rs3858441	0.88[EUR][1000 genomes]
rs3858442	0.86[EUR][1000 genomes]
rs3858443	0.88[EUR][1000 genomes]
rs3858445	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3901671	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5030201	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5030207	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5030218	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5030317	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5030320	0.83[ASN][1000 genomes]
rs6484574	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6484575	0.83[ASN][1000 genomes]
rs6484576	0.83[ASN][1000 genomes]
rs6484577	0.87[ASN][1000 genomes]
rs7107082	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7108339	0.88[EUR][1000 genomes]
rs7115190	0.94[ASN][1000 genomes]
rs7116462	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7125543	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7125816	0.88[EUR][1000 genomes]
rs7938016	0.81[AMR][1000 genomes];0.88[EUR][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	nsv832108	chr11:32395937-32560583	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1038188	chr11:32410305-32449799	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1044547	chr11:32435753-32465233	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32434000-32442400	Weak transcription	Right Ventricle	heart
2	chr11:32438800-32447800	Weak transcription	Ovary	ovary
3	chr11:32440000-32444400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:32440200-32442400	Enhancers	Fetal Thymus	thymus
5	chr11:32440600-32442400	Weak transcription	Fetal Heart	heart
6	chr11:32440800-32442600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:32440800-32448400	Enhancers	Primary hematopoietic stem cells	blood
8	chr11:32441000-32443400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:32441800-32442400	Genic enhancers	Fetal Kidney	kidney
10	chr11:32441800-32442400	Genic enhancers	K562	blood
11	chr11:32441800-32442800	Flanking Active TSS	Dnd41	blood
12	chr11:32441800-32443800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:32441800-32444000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:32441800-32444400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:32442000-32443000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:32442000-32443600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:32442000-32443800	Enhancers	Primary T cells fromperipheralblood	blood
18	chr11:32442000-32443800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:32442000-32443800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr11:32442000-32444000	Enhancers	Primary T cells from cord blood	blood
21	chr11:32442200-32442800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:32442200-32442800	Enhancers	HSMM	muscle
23	chr11:32442200-32443000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr11:32442200-32443400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:32442200-32443600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:32442200-32443600	Enhancers	Left Ventricle	heart
27	chr11:32442200-32443800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr11:32442200-32443800	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr11:32442200-32444000	Enhancers	Thymus	Thymus
30	chr11:32442200-32444400	Enhancers	HSMMtube	muscle

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