Variant report

Variant	rs144439352
Chromosome Location	chr12:12488110-12488111
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	CTCF	chr12:12488080-12488230	GM12864	blood:	n/a	n/a
2	SMC3	chr12:12487110-12488158	SK-N-SH	brain:	n/a	chr12:12487505-12487519 chr12:12487321-12487331 chr12:12487512-12487519
3	CTCF	chr12:12488080-12488230	BJ	skin:	n/a	n/a
4	CTCF	chr12:12488100-12488250	AG04450	lung:	n/a	n/a
5	CTCF	chr12:12487225-12488194	SK-N-SH	brain:	n/a	chr12:12487498-12487519 chr12:12487503-12487521 chr12:12487506-12487516 chr12:12487504-12487520 chr12:12487509-12487518
6	CTCF	chr12:12488100-12488250	AG09319	gingival:	n/a	n/a
7	CTCF	chr12:12487960-12488110	AG09319	gingival:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12419232..12421863-chr12:12485161..12488276,6	MCF-7	breast:
2	chr12:12487375..12490317-chr12:12509840..12512376,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243141	TF binding region
ENSG00000165714	Chromatin interaction
ENSG00000070018	Chromatin interaction
ENSG00000205791	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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898807	chr12:12448948-12502001	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv898808	chr12:12463407-12549503	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv898809	chr12:12488067-12509314	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12473200-12501600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:12473600-12493200	Weak transcription	Fetal Brain Female	brain
3	chr12:12473600-12502000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:12473800-12491800	Weak transcription	Left Ventricle	heart
5	chr12:12473800-12502400	Weak transcription	NHLF	lung
6	chr12:12474000-12489200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:12477200-12491800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:12480400-12490800	Weak transcription	Right Atrium	heart
9	chr12:12480400-12502400	Weak transcription	Right Ventricle	heart
10	chr12:12481200-12491000	Weak transcription	Hela-S3	cervix
11	chr12:12481200-12495400	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:12481200-12502200	Weak transcription	Fetal Heart	heart
13	chr12:12481800-12502400	Weak transcription	Psoas Muscle	Psoas
14	chr12:12482400-12502200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:12483600-12488400	Enhancers	Stomach Mucosa	stomach
16	chr12:12483600-12502800	Weak transcription	Spleen	Spleen
17	chr12:12484200-12488200	Enhancers	Fetal Intestine Large	intestine
18	chr12:12484200-12488200	Enhancers	Fetal Lung	lung
19	chr12:12484600-12488200	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr12:12484800-12491800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:12485200-12489200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:12485400-12489000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:12485400-12489200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:12485400-12489200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:12485400-12500200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:12485400-12502400	Weak transcription	Esophagus	oesophagus
27	chr12:12485400-12502800	Weak transcription	Gastric	stomach
28	chr12:12485400-12502800	Weak transcription	Small Intestine	intestine
29	chr12:12486200-12488200	Genic enhancers	HUVEC	blood vessel
30	chr12:12486400-12488200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:12486400-12488200	Enhancers	Lung	lung
32	chr12:12486400-12488200	Enhancers	HMEC	breast
33	chr12:12486400-12488200	Enhancers	Osteobl	bone
34	chr12:12486400-12488600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:12486400-12489800	Enhancers	Pancreas	Pancrea
36	chr12:12486600-12489800	Enhancers	HepG2	liver
37	chr12:12486800-12488200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:12486800-12491400	Weak transcription	Primary T cells from cord blood	blood
39	chr12:12486800-12491800	Weak transcription	Brain Angular Gyrus	brain
40	chr12:12487000-12488200	Enhancers	GM12878-XiMat	blood
41	chr12:12487000-12489200	Weak transcription	HSMMtube	muscle
42	chr12:12487000-12489800	Enhancers	Liver	Liver
43	chr12:12487000-12491000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:12487200-12491400	Weak transcription	Aorta	Aorta
45	chr12:12487200-12491800	Weak transcription	Ovary	ovary
46	chr12:12487200-12502600	Weak transcription	Fetal Muscle Trunk	muscle
47	chr12:12487400-12488200	Enhancers	Primary B cells from cord blood	blood
48	chr12:12487400-12491000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:12487400-12502200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr12:12487400-12502200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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