Variant report

Variant	rs7120241
Chromosome Location	chr11:32442847-32442848
allele	C/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	EBF1	chr11:32442289-32443064	GM12878	blood:	n/a	n/a
3	ZMIZ1	chr11:32442369-32443007	K562	blood:	n/a	n/a
4	RELA	chr11:32442305-32443062	GM19099	blood:	n/a	n/a
5	POLR2A	chr11:32442252-32445401	K562	blood:	n/a	n/a
6	MAX	chr11:32442464-32442948	K562	blood:	n/a	n/a
7	RELA	chr11:32442315-32443024	GM18951	blood:	n/a	n/a
8	ATF1	chr11:32442306-32443006	K562	blood:	n/a	n/a
9	CCNT2	chr11:32442431-32442884	K562	blood:	n/a	n/a
10	RELA	chr11:32442262-32443009	GM12891	blood:	n/a	n/a
11	GATA3	chr11:32442175-32443165	SK-N-SH	brain:	n/a	chr11:32442878-32442888 chr11:32442877-32442889 chr11:32442892-32442900
12	MAX	chr11:32442317-32443799	NB4	blood:	n/a	n/a
13	CTCF	chr11:32442797-32443410	K562	blood:	n/a	n/a
14	TCF7L2	chr11:32442491-32442956	PANC-1	pancreas:	n/a	n/a
15	ARID3A	chr11:32442369-32442946	K562	blood:	n/a	n/a
16	MTA3	chr11:32442294-32442974	GM12878	blood:	n/a	n/a
17	CEBPB	chr11:32442484-32443041	K562	blood:	n/a	n/a
18	GATA3	chr11:32442262-32443415	T-47D	breast:	n/a	chr11:32442878-32442888 chr11:32443279-32443300 chr11:32442877-32442889 chr11:32442892-32442900
19	WRNIP1	chr11:32442410-32442910	GM12878	blood:	n/a	n/a
20	POLR2A	chr11:32442317-32443009	K562	blood:	n/a	n/a
21	REST	chr11:32442258-32443016	PFSK-1	brain:	n/a	n/a
22	TCF12	chr11:32442250-32443158	SK-N-SH	brain:	n/a	n/a
23	CEBPD	chr11:32442308-32443149	K562	blood:	n/a	n/a
24	TAL1	chr11:32442468-32443071	K562	blood:	n/a	chr11:32442869-32442887
25	MYC	chr11:32442368-32443459	K562	blood:	n/a	n/a
26	RCOR1	chr11:32442292-32443717	K562	blood:	n/a	n/a
27	RUNX3	chr11:32442279-32443102	GM12878	blood:	n/a	n/a
28	EP300	chr11:32442304-32443496	K562	blood:	n/a	chr11:32443261-32443275 chr11:32443179-32443188 chr11:32443383-32443390 chr11:32443144-32443153
29	TAF1	chr11:32442312-32442948	PFSK-1	brain:	n/a	n/a
30	NR2F2	chr11:32442247-32443430	K562	blood:	n/a	n/a
31	GATA1	chr11:32441707-32443572	PBDE	blood:	n/a	chr11:32442878-32442888 chr11:32443279-32443300 chr11:32442877-32442889 chr11:32442892-32442900
32	HCFC1	chr11:32442365-32443015	K562	blood:	n/a	n/a
33	MAFF	chr11:32442410-32442876	K562	blood:	n/a	n/a
34	TBL1XR1	chr11:32442417-32442942	K562	blood:	n/a	n/a
35	JUND	chr11:32442272-32443013	K562	blood:	n/a	n/a
36	POLR2A	chr11:32442429-32442977	K562	blood:	n/a	n/a
37	POLR2A	chr11:32442198-32442949	PFSK-1	brain:	n/a	n/a
38	MAFK	chr11:32442355-32442973	K562	blood:	n/a	n/a
39	CTCF	chr11:32442820-32442970	GM12873	blood:	n/a	n/a
40	EP300	chr11:32442459-32443121	T-47D	breast:	n/a	n/a
41	TBL1XR1	chr11:32442393-32443195	K562	blood:	n/a	n/a
42	RUNX3	chr11:32442275-32443065	GM12878	blood:	n/a	n/a
43	CTCF	chr11:32442842-32442947	GM19239	blood:	n/a	n/a
44	RCOR1	chr11:32442308-32443440	K562	blood:	n/a	n/a
45	YY1	chr11:32442417-32442852	K562	blood:	n/a	n/a
46	SIN3AK20	chr11:32442348-32442986	PFSK-1	brain:	n/a	n/a
47	GATA2	chr11:32442334-32443000	K562	blood:	n/a	chr11:32442878-32442888 chr11:32442877-32442889 chr11:32442892-32442900
48	CTCF	chr11:32442820-32442970	K562	blood:	n/a	n/a
49	EBF1	chr11:32442393-32443014	GM12878	blood:	n/a	n/a
50	GATA2	chr11:32442391-32443040	SH-SY5Y	brain:	n/a	chr11:32442878-32442888 chr11:32442877-32442889 chr11:32442892-32442900

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	chr11:32413367..32415903-chr11:32442457..32444810,2	K562	blood:
4	chr11:32431798..32437144-chr11:32439795..32446613,10	K562	blood:
5	chr11:32441708..32444112-chr11:32605234..32608760,5	K562	blood:
6	chr11:32437656..32439428-chr11:32440957..32443152,2	K562	blood:

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

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs5030190	1.00[AFR][1000 genomes]
rs5030196	1.00[AFR][1000 genomes]
rs5030216	1.00[AFR][1000 genomes]
rs5030220	1.00[AFR][1000 genomes]
rs5030222	1.00[AFR][1000 genomes]
rs5030229	1.00[AFR][1000 genomes]
rs5030235	1.00[AFR][1000 genomes]
rs7105624	0.84[AFR][1000 genomes]
rs7112566	0.94[AFR][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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32438800-32447800	Weak transcription	Ovary	ovary
2	chr11:32440000-32444400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:32440800-32448400	Enhancers	Primary hematopoietic stem cells	blood
4	chr11:32441000-32443400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:32441800-32443800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:32441800-32444000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:32441800-32444400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:32442000-32443000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:32442000-32443600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:32442000-32443800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr11:32442000-32443800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr11:32442000-32443800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr11:32442000-32444000	Enhancers	Primary T cells from cord blood	blood
14	chr11:32442200-32443000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr11:32442200-32443400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:32442200-32443600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:32442200-32443600	Enhancers	Left Ventricle	heart
18	chr11:32442200-32443800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr11:32442200-32443800	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr11:32442200-32444000	Enhancers	Thymus	Thymus
21	chr11:32442200-32444400	Enhancers	HSMMtube	muscle
22	chr11:32442400-32443000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
23	chr11:32442400-32443000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr11:32442400-32443000	Enhancers	HMEC	breast
25	chr11:32442400-32443200	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr11:32442400-32443400	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr11:32442400-32443400	Enhancers	Right Atrium	heart
28	chr11:32442400-32444000	Enhancers	Fetal Heart	heart
29	chr11:32442600-32443000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr11:32442600-32443200	Enhancers	Fetal Kidney	kidney
31	chr11:32442600-32443200	Enhancers	GM12878-XiMat	blood
32	chr11:32442600-32443800	Transcr. at gene 5' and 3'	K562	blood
33	chr11:32442800-32443200	Enhancers	Dnd41	blood
34	chr11:32442800-32443600	Weak transcription	HSMM	muscle
35	chr11:32442800-32444400	Weak transcription	Right Ventricle	heart
36	chr11:32442800-32446600	Enhancers	Fetal Thymus	thymus

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