Variant report

Variant	rs537034723
Chromosome Location	chr16:12635714-12635715
allele	A/C
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	POLR2A	chr16:12635109-12636668	GM12891	blood:	n/a	n/a
2	MAX	chr16:12635693-12635895	K562	blood:	n/a	chr16:12635747-12635756
3	ATF1	chr16:12635640-12635845	K562	blood:	n/a	n/a
4	RCOR1	chr16:12635634-12635852	K562	blood:	n/a	n/a
5	POLR2A	chr16:12633968-12636143	GM12891	blood:	n/a	n/a
6	MYC	chr16:12635543-12635866	K562	blood:	n/a	chr16:12635747-12635756
7	BHLHE40	chr16:12635567-12635885	K562	blood:	n/a	n/a
8	ATF3	chr16:12635622-12635902	K562	blood:	n/a	n/a
9	CTCF	chr16:12635640-12635790	HepG2	liver:	n/a	n/a
10	CEBPB	chr16:12635566-12635904	IMR90	lung:	n/a	chr16:12635747-12635758
11	JUND	chr16:12635625-12635879	K562	blood:	n/a	n/a
12	POLR2A	chr16:12635098-12635828	GM12878	blood:	n/a	n/a
13	JUND	chr16:12635611-12635866	HepG2	liver:	n/a	n/a
14	CEBPB	chr16:12635593-12635907	K562	blood:	n/a	chr16:12635747-12635758
15	EP300	chr16:12635645-12635865	K562	blood:	n/a	n/a
16	MTA3	chr16:12635335-12635878	GM12878	blood:	n/a	n/a
17	CEBPB	chr16:12635585-12635860	A549	lung:	n/a	chr16:12635747-12635758
18	CEBPB	chr16:12635568-12635927	HepG2	liver:	n/a	chr16:12635747-12635758 chr16:12635897-12635908
19	CEBPB	chr16:12635656-12635804	K562	blood:	n/a	chr16:12635747-12635758

Variant related genes	Relation type
ENSG00000260601	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv571463	chr16:12367791-12783535	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1051242	chr16:12482972-12897243	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS 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	10 gene(s)	inside rSNPs	diseases
4	nsv542749	chr16:12482972-12897243	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1035581	chr16:12516946-12863700	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1051607	chr16:12522130-13347676	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv542750	chr16:12522130-13347676	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv1038535	chr16:12620736-12636982	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv571465	chr16:12625395-12639800	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1045473	chr16:12625727-12636982	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1044975	chr16:12625727-12637363	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1041164	chr16:12625727-12637908	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1054084	chr16:12625727-12650247	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv431433	chr16:12628409-12654408	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	esv1842867	chr16:12632286-12678721	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv1039338	chr16:12632918-12642955	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv1040887	chr16:12632918-12650247	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	esv2751546	chr16:12635498-12674704	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12613000-12670800	Weak transcription	Pancreas	Pancrea
2	chr16:12625800-12643400	Weak transcription	Gastric	stomach
3	chr16:12626800-12636000	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr16:12627000-12642200	Weak transcription	Right Ventricle	heart
5	chr16:12627400-12635800	Weak transcription	Fetal Brain Male	brain
6	chr16:12630400-12637000	Weak transcription	Primary T cells from cord blood	blood
7	chr16:12630400-12638800	Weak transcription	Fetal Thymus	thymus
8	chr16:12630600-12637200	Weak transcription	Spleen	Spleen
9	chr16:12632800-12637000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr16:12632800-12638600	Weak transcription	Lung	lung
11	chr16:12632800-12640200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr16:12632800-12641000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr16:12632800-12646600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr16:12632800-12663800	Weak transcription	Aorta	Aorta
15	chr16:12633000-12638400	Weak transcription	Brain Angular Gyrus	brain
16	chr16:12633000-12638400	Weak transcription	Brain Hippocampus Middle	brain
17	chr16:12633000-12646600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr16:12633200-12638400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr16:12633200-12640600	Weak transcription	Stomach Mucosa	stomach
20	chr16:12633200-12640800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr16:12633400-12636000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr16:12633400-12654400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr16:12633600-12637400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr16:12633600-12638400	Weak transcription	Brain Substantia Nigra	brain
25	chr16:12633600-12639000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr16:12633600-12640000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr16:12633800-12636800	Weak transcription	HSMMtube	muscle
28	chr16:12633800-12637200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr16:12633800-12637800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr16:12633800-12640000	Weak transcription	NHEK	skin
31	chr16:12634000-12637600	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr16:12634200-12638600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr16:12634200-12640600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr16:12634400-12637600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr16:12634400-12638000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr16:12634600-12636400	Strong transcription	Primary B cells from cord blood	blood
37	chr16:12635000-12635800	Flanking Active TSS	GM12878-XiMat	blood
38	chr16:12635000-12644200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr16:12635200-12638600	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr16:12635400-12635800	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr16:12635400-12637200	Enhancers	HepG2	liver
42	chr16:12635400-12639000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr16:12635400-12640600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr16:12635600-12635800	Bivalent Enhancer	K562	blood
45	chr16:12635600-12636000	Enhancers	HSMM	muscle
46	chr16:12635600-12639200	Weak transcription	Esophagus	oesophagus
47	chr16:12635600-12641000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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