Variant report

Variant	rs569380893
Chromosome Location	chr12:124459661-124459662
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr12:124459594-124459724	K562	blood:	n/a	n/a
2	MXI1	chr12:124455887-124459788	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr12:124459659-124459681	ProgFib	skin:	n/a	n/a
4	FOS	chr12:124459552-124459752	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr12:124459550-124459691	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:124442245..124448648-chr12:124455013..124459797,7	K562	blood:
2	chr12:124443831..124448109-chr12:124456314..124459797,5	K562	blood:
3	chr12:124137852..124140530-chr12:124458317..124460698,2	K562	blood:
4	chr12:124450327..124455412-chr12:124455418..124460730,10	K562	blood:
5	chr12:124116659..124120709-chr12:124455290..124460616,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000270061	TF binding region
CCDC92	TF binding region
ENSG00000270095	TF binding region
ENSG00000111361	Chromatin interaction
ENSG00000270048	Chromatin interaction
ENSG00000111358	Chromatin interaction
ENSG00000270061	Chromatin interaction
ENSG00000269997	Chromatin interaction
ENSG00000270130	Chromatin interaction
ENSG00000269938	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3493374	chr12:124458433-124496012	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3493363	chr12:124458497-124495976	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv3493385	chr12:124458565-124495928	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124454600-124459800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:124458400-124459800	Flanking Active TSS	Dnd41	blood
3	chr12:124458600-124459800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:124458600-124459800	Flanking Active TSS	Fetal Brain Female	brain
5	chr12:124458800-124459800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:124458800-124459800	Flanking Active TSS	Fetal Lung	lung
7	chr12:124458800-124460200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:124458800-124460800	Weak transcription	Aorta	Aorta
9	chr12:124458800-124465600	Weak transcription	Psoas Muscle	Psoas
10	chr12:124458800-124466600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:124458800-124466600	Weak transcription	Spleen	Spleen
12	chr12:124459000-124459800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr12:124459000-124459800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr12:124459000-124459800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:124459000-124459800	Enhancers	Colon Smooth Muscle	Colon
16	chr12:124459000-124459800	Flanking Active TSS	Fetal Intestine Small	intestine
17	chr12:124459000-124459800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr12:124459000-124460000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr12:124459000-124460000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr12:124459000-124460200	Enhancers	Small Intestine	intestine
21	chr12:124459000-124460600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:124459000-124460600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:124459000-124460600	Weak transcription	Lung	lung
24	chr12:124459000-124464200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr12:124459000-124465800	Weak transcription	Left Ventricle	heart
26	chr12:124459000-124466000	Weak transcription	Right Ventricle	heart
27	chr12:124459000-124468400	Weak transcription	Ovary	ovary
28	chr12:124459000-124470800	Weak transcription	Primary B cells from peripheral blood	blood
29	chr12:124459000-124470800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr12:124459000-124472200	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr12:124459000-124472600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:124459000-124472800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr12:124459000-124473400	Weak transcription	Esophagus	oesophagus
34	chr12:124459200-124459800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr12:124459200-124459800	Flanking Active TSS	Brain Germinal Matrix	brain
36	chr12:124459200-124459800	Flanking Active TSS	Fetal Heart	heart
37	chr12:124459200-124459800	Enhancers	Fetal Stomach	stomach
38	chr12:124459200-124459800	Transcr. at gene 5' and 3'	A549	lung
39	chr12:124459200-124459800	Flanking Active TSS	HepG2	liver
40	chr12:124459200-124460000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr12:124459200-124460000	Weak transcription	Placenta	Placenta
42	chr12:124459200-124460200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:124459200-124460200	Weak transcription	Primary B cells from cord blood	blood
44	chr12:124459200-124460200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:124459200-124473200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr12:124459200-124473400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:124459200-124477000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr12:124459200-124477200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr12:124459400-124459800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:124459400-124459800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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