Variant report

Variant	rs7932663
Chromosome Location	chr11:3888489-3888490
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	FOXA2	chr11:3888304-3888654	HepG2	liver:	n/a	n/a
2	IKZF1	chr11:3888365-3888916	GM12878	blood:	n/a	n/a
3	MEF2A	chr11:3888416-3888829	GM12878	blood:	n/a	n/a
4	TCF3	chr11:3888298-3888800	GM12878	blood:	n/a	n/a
5	EP300	chr11:3888326-3888752	GM12878	blood:	n/a	n/a
6	EP300	chr11:3888264-3889063	GM12878	blood:	n/a	n/a
7	FOXA1	chr11:3887988-3888595	HepG2	liver:	n/a	n/a
8	EBF1	chr11:3888376-3888695	GM12878	blood:	n/a	n/a
9	PBX3	chr11:3888343-3888541	GM12878	blood:	n/a	n/a
10	STAT5A	chr11:3888274-3888799	GM12878	blood:	n/a	n/a
11	GATA1	chr11:3888311-3889369	PBDE	blood:	n/a	chr11:3888496-3888504 chr11:3888831-3888847 chr11:3888976-3888986 chr11:3888828-3888849 chr11:3888977-3888989
12	SPI1	chr11:3888388-3888737	GM12891	blood:	n/a	n/a
13	NR2F2	chr11:3887963-3889677	K562	blood:	n/a	chr11:3889425-3889440
14	TEAD4	chr11:3888268-3889384	K562	blood:	n/a	n/a
15	MTA3	chr11:3888257-3888976	GM12878	blood:	n/a	n/a
16	EBF1	chr11:3888351-3889367	GM12878	blood:	n/a	n/a
17	MAFK	chr11:3888263-3888584	HepG2	liver:	n/a	n/a
18	RUNX3	chr11:3888298-3888921	GM12878	blood:	n/a	n/a
19	MAX	chr11:3888425-3889447	K562	blood:	n/a	n/a
20	JUND	chr11:3888179-3888524	HepG2	liver:	n/a	n/a
21	WRNIP1	chr11:3888331-3889406	GM12878	blood:	n/a	n/a
22	RUNX3	chr11:3888298-3888830	GM12878	blood:	n/a	n/a
23	KAP1	chr11:3888268-3889478	HEK293	kidney:	n/a	n/a
24	EP300	chr11:3888385-3889310	K562	blood:	n/a	n/a
25	RCOR1	chr11:3888419-3889354	K562	blood:	n/a	n/a
26	MTA3	chr11:3888451-3888931	GM12878	blood:	n/a	n/a
27	MAZ	chr11:3888433-3889302	K562	blood:	n/a	n/a
28	TCF3	chr11:3888414-3888702	GM12878	blood:	n/a	n/a
29	FOXA1	chr11:3888097-3888687	HepG2	liver:	n/a	n/a
30	CUX1	chr11:3888466-3889235	K562	blood:	n/a	n/a
31	FOXA1	chr11:3888106-3888678	HepG2	liver:	n/a	n/a
32	TBL1XR1	chr11:3888157-3888818	GM12878	blood:	n/a	n/a
33	ARID3A	chr11:3888130-3888624	HepG2	liver:	n/a	n/a
34	ATF1	chr11:3888442-3889323	K562	blood:	n/a	n/a
35	TCF12	chr11:3888377-3888738	GM12878	blood:	n/a	n/a
36	ELK1	chr11:3888442-3888790	GM12878	blood:	n/a	n/a
37	RCOR1	chr11:3888469-3889284	K562	blood:	n/a	n/a
38	CBX3	chr11:3888399-3889434	K562	blood:	n/a	n/a
39	NFIC	chr11:3888368-3888885	GM12878	blood:	n/a	n/a
40	BCLAF1	chr11:3888334-3888875	GM12878	blood:	n/a	n/a
41	TCF12	chr11:3888391-3888724	GM12878	blood:	n/a	n/a
42	PBX3	chr11:3888330-3888584	GM12878	blood:	n/a	n/a
43	HDAC2	chr11:3888349-3889291	K562	blood:	n/a	chr11:3888978-3888987
44	ATF2	chr11:3888312-3888862	GM12878	blood:	n/a	n/a
45	EBF1	chr11:3888336-3888740	GM12878	blood:	n/a	n/a
46	JUND	chr11:3888321-3889298	K562	blood:	n/a	n/a

Variant related genes	Relation type
STIM1	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12271076	0.83[AFR][1000 genomes]
rs12272635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12275312	1.00[AMR][1000 genomes]
rs7949580	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1803195	chr11:3806490-3924156	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv1046325	chr11:3856201-3895148	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
9	nsv1039059	chr11:3856201-3909415	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
10	nsv540910	chr11:3856201-3909415	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
11	nsv1051580	chr11:3856201-3924216	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
12	nsv1043265	chr11:3856201-3926407	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
13	nsv869701	chr11:3879297-3973762	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3881200-3888600	Weak transcription	Ovary	ovary
2	chr11:3882600-3889400	Enhancers	Primary T cells fromperipheralblood	blood
3	chr11:3882800-3888800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr11:3883000-3893200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:3883000-3893400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:3883200-3889400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:3883200-3890200	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr11:3883200-3893600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr11:3883400-3888600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:3883800-3893600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr11:3883800-3893800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:3884400-3888600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr11:3884600-3889200	Enhancers	Spleen	Spleen
14	chr11:3884600-3889400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:3884600-3889800	Enhancers	Primary B cells from peripheral blood	blood
16	chr11:3884600-3890200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr11:3884800-3889000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr11:3884800-3889400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:3884800-3889600	Enhancers	Colon Smooth Muscle	Colon
20	chr11:3885200-3888600	Enhancers	Rectal Smooth Muscle	rectum
21	chr11:3885200-3889600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr11:3885200-3889800	Enhancers	Adipose Nuclei	Adipose
23	chr11:3885200-3889800	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr11:3885400-3889600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:3885400-3889600	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr11:3885400-3889800	Enhancers	Small Intestine	intestine
27	chr11:3885600-3889400	Enhancers	Left Ventricle	heart
28	chr11:3885600-3889400	Flanking Active TSS	GM12878-XiMat	blood
29	chr11:3885600-3889800	Enhancers	Fetal Muscle Leg	muscle
30	chr11:3885600-3889800	Enhancers	Fetal Thymus	thymus
31	chr11:3885800-3889200	Enhancers	Aorta	Aorta
32	chr11:3885800-3889400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:3885800-3889600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:3886000-3889200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:3886000-3889400	Enhancers	HMEC	breast
36	chr11:3886000-3889600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:3886000-3889800	Enhancers	NHEK	skin
38	chr11:3886200-3889400	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr11:3886200-3889400	Enhancers	NHDF-Ad	bronchial
40	chr11:3886200-3890400	Enhancers	Fetal Heart	heart
41	chr11:3886400-3889600	Enhancers	Fetal Lung	lung
42	chr11:3886400-3890200	Enhancers	Stomach Mucosa	stomach
43	chr11:3886400-3893600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr11:3886600-3888600	Enhancers	A549	lung
45	chr11:3886600-3888800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr11:3886600-3889400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:3886600-3889400	Enhancers	Colonic Mucosa	Colon
48	chr11:3886600-3889400	Enhancers	Placenta	Placenta
49	chr11:3886600-3889400	Enhancers	Lung	lung
50	chr11:3886600-3889400	Enhancers	Right Atrium	heart

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