Variant report

Variant	rs398123055
Chromosome Location	chr12:50355934-50355935
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr12:50355845-50355954	H1-hESC	embryonic stem cell:	n/a	n/a
2	USF2	chr12:50355868-50356048	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr12:50355794-50356111	H1-hESC	embryonic stem cell:	n/a	n/a
4	GABPA	chr12:50355702-50355945	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZNF143	chr12:50355745-50355990	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr12:50355665-50356084	H1-hESC	embryonic stem cell:	n/a	n/a
7	E2F6	chr12:50355662-50356123	H1-hESC	embryonic stem cell:	n/a	chr12:50355673-50355688
8	SUZ12	chr12:50354404-50355991	NT2-D1	testis:	n/a	n/a
9	ZBTB7A	chr12:50355912-50357521	ECC-1	luminal epithelium:	n/a	n/a
10	RAD21	chr12:50355897-50355999	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr12:50355870-50355957	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr12:50355683-50356169	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

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

No data

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

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	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	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
10	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
11	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
12	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
13	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
14	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
15	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
16	esv16085	chr12:50355200-50355978	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv558838	chr12:50355329-50358054	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	nsv558839	chr12:50355381-50358468	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh 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	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50353000-50357400	Enhancers	HMEC	breast
2	chr12:50353400-50357400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:50353600-50357200	Bivalent Enhancer	Fetal Intestine Small	intestine
4	chr12:50353600-50358400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr12:50354000-50356200	Bivalent Enhancer	Spleen	Spleen
6	chr12:50354600-50356000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr12:50354600-50356400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:50354800-50356000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr12:50354800-50356000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr12:50354800-50356000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr12:50354800-50356200	Weak transcription	A549	lung
12	chr12:50354800-50356200	Weak transcription	HSMMtube	muscle
13	chr12:50354800-50356400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:50354800-50356400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
15	chr12:50354800-50357000	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr12:50355000-50356000	Flanking Active TSS	Ovary	ovary
17	chr12:50355200-50356000	Active TSS	H9 Cell Line	embryonic stem cell
18	chr12:50355200-50356000	Weak transcription	Gastric	stomach
19	chr12:50355200-50356400	Weak transcription	Liver	Liver
20	chr12:50355400-50356000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
21	chr12:50355400-50356000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:50355400-50356000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:50355400-50356000	Weak transcription	Brain Substantia Nigra	brain
24	chr12:50355400-50356000	Bivalent Enhancer	Placenta	Placenta
25	chr12:50355400-50356200	Weak transcription	Brain Anterior Caudate	brain
26	chr12:50355400-50356200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr12:50355400-50356400	Weak transcription	Brain Hippocampus Middle	brain
28	chr12:50355400-50356400	Weak transcription	Fetal Heart	heart
29	chr12:50355400-50357200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr12:50355400-50357600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr12:50355400-50357800	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr12:50355400-50358200	Enhancers	Pancreas	Pancrea
33	chr12:50355400-50361200	Weak transcription	Lung	lung
34	chr12:50355600-50356000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:50355600-50356000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
36	chr12:50355600-50356000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:50355600-50356400	Weak transcription	Fetal Brain Female	brain
38	chr12:50355600-50356400	Weak transcription	HUVEC	blood vessel
39	chr12:50355600-50357400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:50355600-50357400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:50355600-50357400	Enhancers	Brain Cingulate Gyrus	brain
42	chr12:50355600-50357600	Enhancers	Left Ventricle	heart
43	chr12:50355800-50356000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
44	chr12:50355800-50356000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
45	chr12:50355800-50356000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:50355800-50356000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:50355800-50356000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:50355800-50356000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
49	chr12:50355800-50356000	Flanking Active TSS	Esophagus	oesophagus
50	chr12:50355800-50356000	Enhancers	Right Atrium	heart

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