Variant report

Variant	rs60706138
Chromosome Location	chr12:118491040-118491041
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	SP1	chr12:118489740-118491146	HCT-116	colon:	n/a	chr12:118491042-118491056 chr12:118490767-118490781
2	MAX	chr12:118489778-118491349	A549	lung:	n/a	chr12:118491313-118491323
3	JUND	chr12:118489917-118491274	HCT-116	colon:	n/a	chr12:118490494-118490503 chr12:118490492-118490503 chr12:118490495-118490506 chr12:118490493-118490504 chr12:118490494-118490501
4	POLR2A	chr12:118490129-118491078	HepG2	liver:	n/a	n/a
5	POLR2A	chr12:118490213-118491240	Hela-S3	cervix:	n/a	n/a
6	E2F6	chr12:118489983-118491082	A549	lung:	n/a	chr12:118490614-118490631 chr12:118490617-118490628 chr12:118490614-118490631
7	SP1	chr12:118489881-118491051	A549	lung:	n/a	chr12:118490767-118490781
8	FOSL1	chr12:118489873-118491060	HCT-116	colon:	n/a	chr12:118490494-118490503 chr12:118490495-118490506 chr12:118490493-118490504 chr12:118490494-118490501
9	GATA3	chr12:118490030-118491053	A549	lung:	n/a	chr12:118490495-118490504
10	JUND	chr12:118489954-118491601	SK-N-SH	brain:	n/a	chr12:118490494-118490503 chr12:118490492-118490503 chr12:118490495-118490506 chr12:118490493-118490504 chr12:118490494-118490501
11	POLR2A	chr12:118489947-118491054	HepG2	liver:	n/a	n/a
12	POLR2A	chr12:118490449-118491634	K562	blood:	n/a	n/a
13	HEY1	chr12:118490221-118491044	HepG2	liver:	n/a	n/a
14	POLR2A	chr12:118489880-118491712	PANC-1	pancreas:	n/a	n/a
15	JUND	chr12:118489886-118491075	HCT-116	colon:	n/a	chr12:118490494-118490503 chr12:118490492-118490503 chr12:118490495-118490506 chr12:118490493-118490504 chr12:118490494-118490501
16	MAX	chr12:118489893-118491222	A549	lung:	n/a	n/a
17	POLR2A	chr12:118490372-118491053	MCF10A-Er-Src	breast:	n/a	n/a
18	FOSL2	chr12:118489763-118491146	A549	lung:	n/a	chr12:118490494-118490503 chr12:118490491-118490502 chr12:118490495-118490506 chr12:118490493-118490504 chr12:118490494-118490501

No.	Distal block	Cell Line	Cell type
1	chr12:118490377..118492216-chr12:118538475..118541095,2	MCF-7	breast:
2	chr12:118405716..118409105-chr12:118489157..118492188,4	MCF-7	breast:
3	chr12:118480642..118483852-chr12:118489666..118492317,3	K562	blood:
4	chr12:118490804..118495433-chr12:118539497..118543131,5	MCF-7	breast:

Variant related genes	Relation type
WSB2	TF binding region
ENSG00000176834	Chromatin interaction
ENSG00000171435	Chromatin interaction
ENSG00000176871	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs55982995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56234244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5745806	1.00[AMR][1000 genomes]
rs5745817	1.00[AMR][1000 genomes]
rs5745821	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795965	chr12:118463329-118504859	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers 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 target site	11 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118455200-118497400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:118457200-118491400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr12:118476400-118497600	Weak transcription	Fetal Brain Male	brain
4	chr12:118477000-118497600	Weak transcription	Primary B cells from cord blood	blood
5	chr12:118477200-118491800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:118480800-118497200	Weak transcription	Fetal Kidney	kidney
7	chr12:118481000-118493000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:118481000-118498200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:118481200-118497600	Weak transcription	Fetal Thymus	thymus
10	chr12:118481400-118497800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:118482600-118497600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr12:118482600-118497600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr12:118482800-118497200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr12:118487200-118493000	Weak transcription	K562	blood
15	chr12:118489400-118493000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:118489400-118497200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:118489600-118491200	Enhancers	Fetal Lung	lung
18	chr12:118489600-118491400	Enhancers	Pancreas	Pancrea
19	chr12:118489600-118491800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:118489600-118493000	Weak transcription	Dnd41	blood
21	chr12:118489600-118494200	Enhancers	Left Ventricle	heart
22	chr12:118489600-118494200	Enhancers	HUVEC	blood vessel
23	chr12:118489600-118496800	Weak transcription	GM12878-XiMat	blood
24	chr12:118489600-118497200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:118489800-118491200	Enhancers	Brain Angular Gyrus	brain
26	chr12:118489800-118491600	Flanking Active TSS	A549	lung
27	chr12:118489800-118491800	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr12:118489800-118491800	Enhancers	HSMMtube	muscle
29	chr12:118489800-118491800	Enhancers	NHLF	lung
30	chr12:118490000-118491200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:118490000-118491200	Enhancers	Esophagus	oesophagus
32	chr12:118490000-118491200	Genic enhancers	Fetal Muscle Leg	muscle
33	chr12:118490000-118491200	Enhancers	Right Ventricle	heart
34	chr12:118490000-118491400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:118490000-118491400	Enhancers	Ovary	ovary
36	chr12:118490000-118491400	Enhancers	Psoas Muscle	Psoas
37	chr12:118490000-118491600	Enhancers	Brain Cingulate Gyrus	brain
38	chr12:118490000-118491600	Enhancers	Brain Hippocampus Middle	brain
39	chr12:118490000-118491600	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr12:118490000-118491600	Enhancers	Brain Substantia Nigra	brain
41	chr12:118490000-118491600	Enhancers	Colon Smooth Muscle	Colon
42	chr12:118490000-118491600	Enhancers	Small Intestine	intestine
43	chr12:118490000-118491600	Enhancers	NHEK	skin
44	chr12:118490200-118491200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr12:118490200-118491200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:118490200-118491200	Enhancers	Placenta	Placenta
47	chr12:118490200-118491400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:118490200-118491400	Genic enhancers	Fetal Stomach	stomach
49	chr12:118490200-118491400	Enhancers	Gastric	stomach
50	chr12:118490200-118491400	Enhancers	Placenta Amnion	Placenta Amnion

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