Variant report

Variant	rs73403261
Chromosome Location	chr12:117476320-117476321
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1051879	0.80[EUR][1000 genomes]
rs11833966	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11836743	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12099584	0.80[EUR][1000 genomes]
rs16947144	0.80[EUR][1000 genomes]
rs16947209	0.80[EUR][1000 genomes]
rs16947233	0.80[EUR][1000 genomes]
rs16947295	0.93[EUR][1000 genomes]
rs4094199	0.80[EUR][1000 genomes]
rs57135901	0.80[EUR][1000 genomes]
rs58882507	0.80[EUR][1000 genomes]
rs59623332	0.87[EUR][1000 genomes]
rs60272946	0.80[EUR][1000 genomes]
rs61178788	0.80[EUR][1000 genomes]
rs61207925	0.80[EUR][1000 genomes]
rs61288722	0.80[EUR][1000 genomes]
rs7133609	0.80[EUR][1000 genomes]
rs7314897	0.80[EUR][1000 genomes]
rs73397478	0.80[EUR][1000 genomes]
rs73397488	0.80[EUR][1000 genomes]
rs73399480	0.80[EUR][1000 genomes]
rs73399483	0.80[EUR][1000 genomes]
rs73399502	0.80[EUR][1000 genomes]
rs73403258	0.84[AFR][1000 genomes]
rs73403259	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73403260	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73403264	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73403270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7958175	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7979159	0.93[AFR][1000 genomes]

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	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking 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
2	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899541	chr12:117414974-117497066	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1804583	chr12:117472107-117525169	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117452800-117479000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr12:117462000-117477400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:117466600-117479800	Weak transcription	Hela-S3	cervix
4	chr12:117467000-117479600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:117467400-117486000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr12:117468200-117477000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr12:117468600-117477400	Weak transcription	Primary B cells from cord blood	blood
8	chr12:117470400-117476800	Enhancers	Stomach Mucosa	stomach
9	chr12:117470800-117476400	Strong transcription	Dnd41	blood
10	chr12:117470800-117483400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:117471200-117482800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:117471400-117479800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:117471600-117480200	Weak transcription	Esophagus	oesophagus
14	chr12:117471600-117482600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr12:117471800-117477200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr12:117471800-117477400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:117472000-117482600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:117472200-117477200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr12:117472200-117477400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr12:117472200-117478400	Weak transcription	Primary T cells from cord blood	blood
21	chr12:117472200-117479800	Weak transcription	Right Atrium	heart
22	chr12:117472600-117480200	Weak transcription	Ovary	ovary
23	chr12:117472600-117483000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:117473000-117477600	Weak transcription	K562	blood
25	chr12:117473400-117478400	Weak transcription	Brain Germinal Matrix	brain
26	chr12:117473800-117477600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:117474000-117479800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr12:117474200-117476800	Weak transcription	HepG2	liver
29	chr12:117474400-117478400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:117474600-117476800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:117474600-117477600	Weak transcription	Fetal Brain Female	brain
32	chr12:117474600-117479600	Weak transcription	Fetal Heart	heart
33	chr12:117474600-117479600	Weak transcription	Spleen	Spleen
34	chr12:117474800-117479600	Weak transcription	Left Ventricle	heart
35	chr12:117475000-117477200	Strong transcription	A549	lung
36	chr12:117475200-117476400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:117475400-117476600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
38	chr12:117475600-117477000	Genic enhancers	Gastric	stomach
39	chr12:117475800-117476400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:117476000-117476600	Enhancers	Right Ventricle	heart
41	chr12:117476000-117477000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr12:117476000-117477000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr12:117476000-117478200	Strong transcription	Pancreas	Pancrea
44	chr12:117476000-117479600	Weak transcription	Fetal Intestine Large	intestine
45	chr12:117476000-117479600	Weak transcription	Fetal Intestine Small	intestine
46	chr12:117476200-117477000	Weak transcription	Fetal Stomach	stomach
47	chr12:117476200-117477600	Weak transcription	Brain Anterior Caudate	brain
48	chr12:117476200-117477600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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