Variant report

Variant	rs12272635
Chromosome Location	chr11:3889021-3889022
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	TRIM28	chr11:3888499-3889387	K562	blood:	n/a	n/a
2	MYC	chr11:3888554-3889290	K562	blood:	n/a	n/a
3	GABPA	chr11:3888671-3889028	K562	blood:	n/a	n/a
4	CEBPB	chr11:3888779-3889028	K562	blood:	n/a	n/a
5	MAFK	chr11:3888805-3889077	K562	blood:	n/a	n/a
6	CEBPD	chr11:3888601-3889170	K562	blood:	n/a	n/a
7	ARID3A	chr11:3888567-3889552	K562	blood:	n/a	n/a
8	TBL1XR1	chr11:3888626-3889160	K562	blood:	n/a	n/a
9	CEBPD	chr11:3888532-3889318	K562	blood:	n/a	n/a
10	EP300	chr11:3888264-3889063	GM12878	blood:	n/a	n/a
11	HCFC1	chr11:3888849-3889334	K562	blood:	n/a	n/a
12	POLR2A	chr11:3888566-3889356	K562	blood:	n/a	n/a
13	TEAD4	chr11:3888510-3889521	K562	blood:	n/a	n/a
14	GATA1	chr11:3888311-3889369	PBDE	blood:	n/a	chr11:3888496-3888504 chr11:3888831-3888847 chr11:3888976-3888986 chr11:3888828-3888849 chr11:3888977-3888989
15	HDAC2	chr11:3888626-3889369	K562	blood:	n/a	chr11:3888978-3888987
16	TAL1	chr11:3888558-3889363	K562	blood:	n/a	chr11:3888786-3888804
17	MYC	chr11:3888540-3889249	K562	blood:	n/a	n/a
18	TBL1XR1	chr11:3888539-3889551	K562	blood:	n/a	n/a
19	PML	chr11:3888534-3889144	K562	blood:	n/a	n/a
20	NR2F2	chr11:3887963-3889677	K562	blood:	n/a	chr11:3889425-3889440
21	ELF1	chr11:3888716-3889384	K562	blood:	n/a	n/a
22	TEAD4	chr11:3888268-3889384	K562	blood:	n/a	n/a
23	EBF1	chr11:3888351-3889367	GM12878	blood:	n/a	n/a
24	MAX	chr11:3888664-3889213	K562	blood:	n/a	n/a
25	ZNF143	chr11:3888600-3889298	K562	blood:	n/a	n/a
26	UBTF	chr11:3888575-3889287	K562	blood:	n/a	n/a
27	MXI1	chr11:3888627-3889128	K562	blood:	n/a	n/a
28	MAX	chr11:3888425-3889447	K562	blood:	n/a	n/a
29	ZC3H11A	chr11:3888601-3889042	K562	blood:	n/a	n/a
30	WRNIP1	chr11:3888331-3889406	GM12878	blood:	n/a	n/a
31	NR2F2	chr11:3888544-3889403	K562	blood:	n/a	n/a
32	IRF1	chr11:3888550-3889088	K562	blood:	n/a	n/a
33	POLR2A	chr11:3888563-3889390	K562	blood:	n/a	n/a
34	KAP1	chr11:3888268-3889478	HEK293	kidney:	n/a	n/a
35	EP300	chr11:3888385-3889310	K562	blood:	n/a	n/a
36	UBTF	chr11:3888588-3889313	K562	blood:	n/a	n/a
37	YY1	chr11:3888901-3889327	K562	blood:	n/a	n/a
38	GATA2	chr11:3888986-3889688	HUVEC	blood vessel:	n/a	n/a
39	TBP	chr11:3888721-3889225	K562	blood:	n/a	n/a
40	RCOR1	chr11:3888419-3889354	K562	blood:	n/a	n/a
41	GATA2	chr11:3888566-3889305	K562	blood:	n/a	chr11:3888831-3888847 chr11:3888976-3888986 chr11:3888828-3888849 chr11:3888977-3888989
42	CUX1	chr11:3888940-3889334	GM12878	blood:	n/a	n/a
43	STAT5A	chr11:3888500-3889187	K562	blood:	n/a	n/a
44	BHLHE40	chr11:3888592-3889225	K562	blood:	n/a	n/a
45	GATA2	chr11:3888628-3889201	K562	blood:	n/a	chr11:3888831-3888847 chr11:3888976-3888986 chr11:3888828-3888849 chr11:3888977-3888989
46	MAZ	chr11:3888433-3889302	K562	blood:	n/a	n/a
47	JUN	chr11:3888695-3889211	K562	blood:	n/a	n/a
48	POLR2A	chr11:3888634-3889307	K562	blood:	n/a	n/a
49	MAX	chr11:3888927-3889295	K562	blood:	n/a	n/a
50	GATA2	chr11:3888543-3889353	K562	blood:	n/a	chr11:3888831-3888847 chr11:3888976-3888986 chr11:3888828-3888849 chr11:3888977-3888989

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]
rs12275312	1.00[AMR][1000 genomes]
rs7932663	1.00[AFR][1000 genomes];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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3882600-3889400	Enhancers	Primary T cells fromperipheralblood	blood
2	chr11:3883000-3893200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr11:3883000-3893400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr11:3883200-3889400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr11:3883200-3890200	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr11:3883200-3893600	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr11:3883800-3893600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr11:3883800-3893800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:3884600-3889200	Enhancers	Spleen	Spleen
10	chr11:3884600-3889400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:3884600-3889800	Enhancers	Primary B cells from peripheral blood	blood
12	chr11:3884600-3890200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr11:3884800-3889400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr11:3884800-3889600	Enhancers	Colon Smooth Muscle	Colon
15	chr11:3885200-3889600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:3885200-3889800	Enhancers	Adipose Nuclei	Adipose
17	chr11:3885200-3889800	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr11:3885400-3889600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:3885400-3889600	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr11:3885400-3889800	Enhancers	Small Intestine	intestine
21	chr11:3885600-3889400	Enhancers	Left Ventricle	heart
22	chr11:3885600-3889400	Flanking Active TSS	GM12878-XiMat	blood
23	chr11:3885600-3889800	Enhancers	Fetal Muscle Leg	muscle
24	chr11:3885600-3889800	Enhancers	Fetal Thymus	thymus
25	chr11:3885800-3889200	Enhancers	Aorta	Aorta
26	chr11:3885800-3889400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:3885800-3889600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:3886000-3889200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:3886000-3889400	Enhancers	HMEC	breast
30	chr11:3886000-3889600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:3886000-3889800	Enhancers	NHEK	skin
32	chr11:3886200-3889400	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr11:3886200-3889400	Enhancers	NHDF-Ad	bronchial
34	chr11:3886200-3890400	Enhancers	Fetal Heart	heart
35	chr11:3886400-3889600	Enhancers	Fetal Lung	lung
36	chr11:3886400-3890200	Enhancers	Stomach Mucosa	stomach
37	chr11:3886400-3893600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr11:3886600-3889400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:3886600-3889400	Enhancers	Colonic Mucosa	Colon
40	chr11:3886600-3889400	Enhancers	Placenta	Placenta
41	chr11:3886600-3889400	Enhancers	Lung	lung
42	chr11:3886600-3889400	Enhancers	Right Atrium	heart
43	chr11:3886600-3889400	Enhancers	Osteobl	bone
44	chr11:3886600-3889600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:3886600-3893400	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr11:3886800-3889400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr11:3886800-3889400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr11:3886800-3889400	Enhancers	Gastric	stomach
49	chr11:3886800-3890000	Enhancers	Fetal Intestine Large	intestine
50	chr11:3886800-3890200	Enhancers	Fetal Intestine Small	intestine

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