Variant report

Variant	rs71457144
Chromosome Location	chr12:12487161-12487162
allele	A/C
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	RAD21	chr12:12487055-12487840	A549	lung:	n/a	chr12:12487468-12487477 chr12:12487501-12487520 chr12:12487505-12487519 chr12:12487509-12487522
2	SMC3	chr12:12487110-12488158	SK-N-SH	brain:	n/a	chr12:12487505-12487519 chr12:12487321-12487331 chr12:12487512-12487519
3	CTCF	chr12:12487117-12487172	H1-hESC	embryonic stem cell:	n/a	n/a
4	MYC	chr12:12487042-12487192	MCF-7	breast:	n/a	n/a
5	RAD21	chr12:12487148-12487866	HCT-116	colon:	n/a	chr12:12487468-12487477 chr12:12487501-12487520 chr12:12487505-12487519 chr12:12487509-12487522
6	CTCF	chr12:12487063-12487878	HCT-116	colon:	n/a	chr12:12487498-12487519 chr12:12487503-12487521 chr12:12487506-12487516 chr12:12487504-12487520 chr12:12487509-12487518
7	CTCF	chr12:12486525-12488106	A549	lung:	n/a	chr12:12487498-12487519 chr12:12487503-12487521 chr12:12487506-12487516 chr12:12487504-12487520 chr12:12487509-12487518
8	BCL3	chr12:12486983-12487514	GM12878	blood:	n/a	chr12:12487446-12487455
9	RAD21	chr12:12487130-12487905	SK-N-SH	brain:	n/a	chr12:12487468-12487477 chr12:12487501-12487520 chr12:12487505-12487519 chr12:12487509-12487522

No.	Distal block	Cell Line	Cell type
1	chr12:12234847..12235643-chr12:12487037..12487905,2	MCF-7	breast:
2	chr12:12486786..12487683-chr12:12503028..12503718,2	K562	blood:
3	chr12:12419232..12421863-chr12:12485161..12488276,6	MCF-7	breast:
4	chr12:12234594..12235634-chr12:12486774..12487917,3	MCF-7	breast:
5	chr12:12234512..12235357-chr12:12487032..12487983,4	K562	blood:

Variant related genes	Relation type
ENSG00000243141	TF binding region
ENSG00000111261	Chromatin interaction
ENSG00000070018	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12814622	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35033580	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71452571	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]

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	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

No data

Chromatin state (count:88 , 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	chr12:12473800-12487600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:12473800-12491800	Weak transcription	Left Ventricle	heart
6	chr12:12473800-12502400	Weak transcription	NHLF	lung
7	chr12:12474000-12489200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:12477000-12487600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:12477200-12491800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:12480400-12487400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr12:12480400-12490800	Weak transcription	Right Atrium	heart
12	chr12:12480400-12502400	Weak transcription	Right Ventricle	heart
13	chr12:12481000-12487400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:12481200-12487400	Weak transcription	A549	lung
15	chr12:12481200-12491000	Weak transcription	Hela-S3	cervix
16	chr12:12481200-12495400	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:12481200-12502200	Weak transcription	Fetal Heart	heart
18	chr12:12481800-12502400	Weak transcription	Psoas Muscle	Psoas
19	chr12:12482400-12502200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:12483600-12487400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:12483600-12487400	Weak transcription	Adipose Nuclei	Adipose
22	chr12:12483600-12487600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:12483600-12487600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr12:12483600-12488400	Enhancers	Stomach Mucosa	stomach
25	chr12:12483600-12502800	Weak transcription	Spleen	Spleen
26	chr12:12484200-12488200	Enhancers	Fetal Intestine Large	intestine
27	chr12:12484200-12488200	Enhancers	Fetal Lung	lung
28	chr12:12484600-12488200	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr12:12484800-12487800	Weak transcription	Placenta	Placenta
30	chr12:12484800-12491800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:12485000-12487600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr12:12485200-12487600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:12485200-12488000	Enhancers	Fetal Thymus	thymus
34	chr12:12485200-12489200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr12:12485400-12489000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr12:12485400-12489200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr12:12485400-12489200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr12:12485400-12500200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:12485400-12502400	Weak transcription	Esophagus	oesophagus
40	chr12:12485400-12502800	Weak transcription	Gastric	stomach
41	chr12:12485400-12502800	Weak transcription	Small Intestine	intestine
42	chr12:12486000-12487400	Enhancers	Duodenum Mucosa	Duodenum
43	chr12:12486200-12487400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:12486200-12487600	Enhancers	Colonic Mucosa	Colon
45	chr12:12486200-12487800	Enhancers	Fetal Kidney	kidney
46	chr12:12486200-12488000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:12486200-12488000	Enhancers	Brain Hippocampus Middle	brain
48	chr12:12486200-12488200	Genic enhancers	HUVEC	blood vessel
49	chr12:12486400-12487200	Enhancers	Aorta	Aorta
50	chr12:12486400-12487200	Enhancers	Fetal Muscle Trunk	muscle

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