Variant report

Variant	rs565124024
Chromosome Location	chr11:74951426-74951427
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	MAX	chr11:74951416-74951649	K562	blood:	n/a	n/a
2	USF1	chr11:74951354-74951660	H1-hESC	embryonic stem cell:	n/a	n/a
3	USF1	chr11:74951355-74951636	H1-hESC	embryonic stem cell:	n/a	n/a
4	E2F6	chr11:74951288-74951860	H1-hESC	embryonic stem cell:	n/a	chr11:74951728-74951737 chr11:74951787-74951796
5	MAX	chr11:74951392-74951814	H1-hESC	embryonic stem cell:	n/a	chr11:74951796-74951806
6	BHLHE40	chr11:74951388-74951751	K562	blood:	n/a	chr11:74951656-74951672
7	MAX	chr11:74951374-74951723	K562	blood:	n/a	n/a
8	MAX	chr11:74951373-74951653	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTBP2	chr11:74951385-74953406	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr11:74951356-74951774	ECC-1	luminal epithelium:	n/a	n/a
11	ZNF263	chr11:74951281-74951764	HEK293-T-REx	kidney:	n/a	chr11:74951566-74951575 chr11:74951603-74951612
12	MXI1	chr11:74951164-74953261	SK-N-SH	brain:	n/a	n/a
13	MAX	chr11:74951258-74951794	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74660462..74662157-chr11:74951131..74952954,2	K562	blood:

Variant related genes	Relation type
TPBGL	TF binding region
ENSG00000118363	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049887	chr11:74937977-75040438	Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1036292	chr11:74937977-75059496	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
3	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
4	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
5	esv3338705	chr11:74950304-74954802	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3357620	chr11:74951054-74954252	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv3416910	chr11:74951204-74954302	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74945400-74951600	Weak transcription	Ovary	ovary
2	chr11:74951000-74951600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
3	chr11:74951000-74952200	Enhancers	Spleen	Spleen
4	chr11:74951000-74953200	Active TSS	Brain Anterior Caudate	brain
5	chr11:74951000-74953400	Active TSS	Brain Angular Gyrus	brain
6	chr11:74951000-74953600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr11:74951200-74951600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
8	chr11:74951200-74951600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
9	chr11:74951200-74951600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:74951200-74951600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
11	chr11:74951200-74951600	Active TSS	Right Ventricle	heart
12	chr11:74951200-74951800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:74951200-74952000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:74951200-74952000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:74951200-74952600	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr11:74951400-74951600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr11:74951400-74951600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:74951400-74951600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
19	chr11:74951400-74951600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:74951400-74951600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:74951400-74951600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:74951400-74951600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr11:74951400-74951600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
24	chr11:74951400-74951600	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
25	chr11:74951400-74951600	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
26	chr11:74951400-74951600	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
27	chr11:74951400-74951600	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr11:74951400-74951600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
29	chr11:74951400-74951600	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
30	chr11:74951400-74951600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:74951400-74951600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:74951400-74951600	Bivalent Enhancer	Aorta	Aorta
33	chr11:74951400-74951600	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr11:74951400-74951600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
35	chr11:74951400-74951600	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:74951400-74951600	Bivalent Enhancer	Colonic Mucosa	Colon
37	chr11:74951400-74951600	Bivalent Enhancer	Colon Smooth Muscle	Colon
38	chr11:74951400-74951600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
39	chr11:74951400-74951600	Bivalent Enhancer	Fetal Brain Female	brain
40	chr11:74951400-74951600	Flanking Bivalent TSS/Enh	Placenta	Placenta
41	chr11:74951400-74951600	Bivalent Enhancer	Fetal Thymus	thymus
42	chr11:74951400-74951600	Flanking Active TSS	Lung	lung
43	chr11:74951400-74951600	Enhancers	Pancreas	Pancrea
44	chr11:74951400-74951600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
45	chr11:74951400-74951600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
46	chr11:74951400-74951600	Bivalent Enhancer	Thymus	Thymus
47	chr11:74951400-74951600	Flanking Bivalent TSS/Enh	HepG2	liver
48	chr11:74951400-74951800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
49	chr11:74951400-74951800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
50	chr11:74951400-74951800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood

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