Variant report

Variant	rs181898300
Chromosome Location	chr12:118575906-118575907
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:118575703-118576187	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:118575865-118576065	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr12:118575154-118576013	HepG2	liver:	n/a	n/a
4	POLR2A	chr12:118575555-118576203	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:118540025..118541851-chr12:118573172..118576109,2	MCF-7	breast:
2	chr12:118573812..118576177-chr12:118596570..118599987,3	K562	blood:
3	chr12:118556622..118559418-chr12:118574681..118576805,2	K562	blood:
4	chr12:118573102..118576254-chr12:118808901..118815960,7	MCF-7	breast:
5	chr12:118496436..118502396-chr12:118572063..118576805,10	MCF-7	breast:
6	chr12:118572856..118575962-chr12:118597469..118600285,3	K562	blood:

No data

Variant related genes	Relation type
VSIG10	TF binding region
PEBP1	TF binding region
ENSG00000176871	Chromatin interaction
ENSG00000176834	Chromatin interaction
ENSG00000270482	Chromatin interaction
ENSG00000111707	Chromatin interaction
ENSG00000135090	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1054703	chr12:118575000-118638613	Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv541611	chr12:118575000-118638613	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118574800-118576000	Weak transcription	Small Intestine	intestine
2	chr12:118575000-118576000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr12:118575000-118576000	Flanking Active TSS	Brain Angular Gyrus	brain
4	chr12:118575000-118576000	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
5	chr12:118575000-118576200	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
6	chr12:118575000-118576800	Enhancers	Gastric	stomach
7	chr12:118575000-118577200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr12:118575000-118577200	Weak transcription	Fetal Thymus	thymus
9	chr12:118575000-118577400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr12:118575000-118585200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr12:118575200-118576000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:118575200-118576000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr12:118575200-118576000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr12:118575200-118576000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:118575200-118576000	Enhancers	Stomach Mucosa	stomach
16	chr12:118575200-118576200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:118575200-118576200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:118575200-118576200	Enhancers	Left Ventricle	heart
19	chr12:118575200-118576600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr12:118575200-118577000	Weak transcription	Fetal Kidney	kidney
21	chr12:118575200-118577200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:118575200-118577200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:118575200-118577200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:118575200-118577200	Weak transcription	Aorta	Aorta
25	chr12:118575200-118577200	Enhancers	Placenta	Placenta
26	chr12:118575200-118577200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr12:118575200-118577200	Weak transcription	Spleen	Spleen
28	chr12:118575200-118577600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:118575200-118579400	Weak transcription	Primary B cells from cord blood	blood
30	chr12:118575200-118585800	Weak transcription	Fetal Heart	heart
31	chr12:118575400-118576000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:118575400-118576000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr12:118575400-118576000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:118575400-118576000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:118575400-118576000	Enhancers	Colonic Mucosa	Colon
36	chr12:118575400-118576000	Enhancers	Colon Smooth Muscle	Colon
37	chr12:118575400-118576000	Enhancers	Right Atrium	heart
38	chr12:118575400-118576000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr12:118575400-118576000	Weak transcription	Osteobl	bone
40	chr12:118575400-118576200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
41	chr12:118575400-118576200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr12:118575400-118576200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:118575400-118576400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:118575400-118576400	Weak transcription	Primary T cells from cord blood	blood
45	chr12:118575400-118576400	Weak transcription	HSMM	muscle
46	chr12:118575400-118576600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:118575400-118576600	Weak transcription	Brain Germinal Matrix	brain
48	chr12:118575400-118576600	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr12:118575400-118576600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr12:118575400-118576800	Genic enhancers	Fetal Intestine Small	intestine

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