Variant report

Variant	rs563351480
Chromosome Location	chr12:50354466-50354467
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	SUZ12	chr12:50354404-50355991	NT2-D1	testis:	n/a	n/a
2	TCF12	chr12:50353199-50354778	ECC-1	luminal epithelium:	n/a	chr12:50353586-50353593
3	EP300	chr12:50353164-50354485	ECC-1	luminal epithelium:	n/a	chr12:50353688-50353697 chr12:50353434-50353448 chr12:50353740-50353750

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50353765..50356841-chr12:50356981..50360242,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257378	TF binding region
AQP5	TF binding region
ENSG00000161798	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv832407	chr12:50243268-50412236	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv558835	chr12:50275137-50433234	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv899072	chr12:50326176-50379667	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv899073	chr12:50335628-50360461	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	esv1802978	chr12:50341465-50355864	Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	esv1847541	chr12:50341465-50355864	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	esv1851851	chr12:50341610-50355864	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	esv1826205	chr12:50344955-50355535	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	esv1836037	chr12:50344955-50355535	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	esv1800078	chr12:50344955-50355665	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	esv1831333	chr12:50344955-50355665	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	esv1835074	chr12:50344955-50355665	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	esv1818774	chr12:50344976-50355535	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	esv1845392	chr12:50344976-50355665	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	esv1839641	chr12:50344976-50355864	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
20	nsv899074	chr12:50344976-50360461	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
21	esv1820704	chr12:50347938-50355535	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
22	esv1835547	chr12:50347938-50355535	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
23	esv1841251	chr12:50347938-50355535	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
24	esv1848606	chr12:50347938-50355535	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
25	esv1795192	chr12:50347938-50355665	Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
26	esv1797115	chr12:50347938-50355665	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
27	esv1805463	chr12:50347938-50355665	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
28	esv1812643	chr12:50347938-50355665	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
29	esv1816621	chr12:50347938-50355665	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
30	esv1850188	chr12:50347938-50355665	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
31	esv1815472	chr12:50347938-50355834	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
32	esv1819184	chr12:50347938-50355834	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
33	esv1828759	chr12:50349765-50366300	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
34	esv1827130	chr12:50349765-50379667	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
35	nsv469374	chr12:50349765-50467769	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
36	nsv469375	chr12:50349765-50467769	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
37	nsv558837	chr12:50349765-50467769	Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
38	nsv523899	chr12:50354437-50366300	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50352600-50354600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:50352600-50354600	Enhancers	HUVEC	blood vessel
3	chr12:50352800-50354800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:50352800-50354800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:50352800-50355400	Enhancers	Lung	lung
6	chr12:50353000-50354600	Enhancers	HSMM	muscle
7	chr12:50353000-50354800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr12:50353000-50354800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:50353000-50354800	Enhancers	HSMMtube	muscle
10	chr12:50353000-50357400	Enhancers	HMEC	breast
11	chr12:50353200-50354600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
12	chr12:50353200-50354800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
13	chr12:50353200-50354800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:50353200-50354800	Enhancers	A549	lung
15	chr12:50353200-50355000	Flanking Active TSS	Hela-S3	cervix
16	chr12:50353200-50355200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:50353200-50355200	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr12:50353200-50355200	Enhancers	Gastric	stomach
19	chr12:50353400-50354600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:50353400-50354800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:50353400-50354800	Enhancers	Dnd41	blood
22	chr12:50353400-50355000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:50353400-50355000	Bivalent Enhancer	Adipose Nuclei	Adipose
24	chr12:50353400-50355000	Enhancers	Left Ventricle	heart
25	chr12:50353400-50355000	Enhancers	Pancreas	Pancrea
26	chr12:50353400-50355200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
27	chr12:50353400-50355200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr12:50353400-50355200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr12:50353400-50355200	Bivalent Enhancer	NH-A	brain
30	chr12:50353400-50355400	Bivalent Enhancer	Fetal Lung	lung
31	chr12:50353400-50357400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:50353600-50354600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
33	chr12:50353600-50354800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:50353600-50354800	Bivalent Enhancer	Fetal Heart	heart
35	chr12:50353600-50354800	Enhancers	Right Atrium	heart
36	chr12:50353600-50354800	Bivalent Enhancer	HepG2	liver
37	chr12:50353600-50357200	Bivalent Enhancer	Fetal Intestine Small	intestine
38	chr12:50353600-50358400	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr12:50353800-50355000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:50354000-50354800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:50354000-50354800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:50354000-50354800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:50354000-50354800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:50354000-50355200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:50354000-50356200	Bivalent Enhancer	Spleen	Spleen
46	chr12:50354200-50354600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
47	chr12:50354200-50354600	Weak transcription	Right Ventricle	heart
48	chr12:50354200-50354800	Bivalent Enhancer	Fetal Kidney	kidney
49	chr12:50354200-50355200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
50	chr12:50354400-50354600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell

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