Variant report

Variant	rs552251181
Chromosome Location	chr12:50444750-50444751
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50440879..50447724-chr12:50448390..50454714,11	K562	blood:
2	chr12:50432660..50433175-chr12:50444120..50444802,2	K562	blood:
3	chr12:50367042..50370413-chr12:50441830..50446012,4	K562	blood:
4	chr12:50444648..50446758-chr12:50452831..50455607,2	K562	blood:
5	chr12:50441963..50444884-chr12:50445387..50446910,2	MCF-7	breast:
6	chr12:50424617..50427330-chr12:50443083..50445011,2	MCF-7	breast:
7	chr12:50443166..50446140-chr12:50448387..50451467,3	K562	blood:
8	chr12:50431093..50436094-chr12:50443171..50446761,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000161800	Chromatin interaction
ENSG00000110881	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
4	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
5	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
6	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
7	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
8	esv3324153	chr12:50443735-50446133	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50443000-50447200	Enhancers	Fetal Brain Male	brain
2	chr12:50443400-50445000	Enhancers	Stomach Mucosa	stomach
3	chr12:50443400-50445400	Enhancers	Duodenum Smooth Muscle	Duodenum
4	chr12:50443400-50445800	Enhancers	Placenta	Placenta
5	chr12:50443600-50445200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr12:50443800-50445400	Enhancers	Placenta Amnion	Placenta Amnion
7	chr12:50444000-50445200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr12:50444000-50445200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr12:50444000-50445400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
10	chr12:50444000-50445400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:50444000-50445600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr12:50444000-50445600	Bivalent Enhancer	Primary B cells from cord blood	blood
13	chr12:50444000-50446200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr12:50444200-50444800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:50444200-50444800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:50444200-50444800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr12:50444200-50444800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
18	chr12:50444200-50444800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr12:50444200-50444800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:50444200-50444800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:50444200-50444800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:50444200-50444800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:50444200-50444800	Active TSS	Psoas Muscle	Psoas
24	chr12:50444200-50444800	Active TSS	Right Ventricle	heart
25	chr12:50444200-50444800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
26	chr12:50444200-50445000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
27	chr12:50444200-50445200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
28	chr12:50444200-50445200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
29	chr12:50444200-50445200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr12:50444200-50445400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:50444200-50445800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:50444400-50444800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:50444400-50444800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:50444400-50444800	Active TSS	Aorta	Aorta
35	chr12:50444400-50444800	Active TSS	Ovary	ovary
36	chr12:50444400-50444800	Active TSS	Right Atrium	heart
37	chr12:50444400-50445000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
38	chr12:50444400-50445000	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:50444400-50445000	Active TSS	Brain Germinal Matrix	brain
40	chr12:50444400-50445000	Bivalent/Poised TSS	HepG2	liver
41	chr12:50444400-50445200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
42	chr12:50444400-50445200	Enhancers	Adipose Nuclei	Adipose
43	chr12:50444400-50445200	Active TSS	Fetal Brain Female	brain
44	chr12:50444400-50445200	Enhancers	Fetal Lung	lung
45	chr12:50444400-50445600	Enhancers	Fetal Heart	heart
46	chr12:50444400-50445800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:50444400-50446000	Enhancers	Primary hematopoietic stem cells	blood
48	chr12:50444400-50449600	Weak transcription	Brain Angular Gyrus	brain
49	chr12:50444400-50449600	Weak transcription	Gastric	stomach
50	chr12:50444400-50449600	Weak transcription	Spleen	Spleen

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