Variant report

Variant	rs59623332
Chromosome Location	chr12:117431013-117431014
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117424054..117426745-chr12:117430419..117432547,2	MCF-7	breast:
2	chr12:117416955..117418879-chr12:117430472..117432333,2	K562	blood:
3	chr12:117421081..117423029-chr12:117430032..117431704,2	K562	blood:

Variant related genes	Relation type
ENSG00000257279	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1051879	0.93[EUR][1000 genomes]
rs11068246	0.80[EUR][1000 genomes]
rs11068255	0.80[EUR][1000 genomes]
rs11833966	0.87[EUR][1000 genomes]
rs11836743	1.00[EUR][1000 genomes]
rs12099584	0.93[EUR][1000 genomes]
rs12316811	0.80[EUR][1000 genomes]
rs12317604	0.80[EUR][1000 genomes]
rs12321592	0.80[EUR][1000 genomes]
rs16947122	0.80[EUR][1000 genomes]
rs16947131	0.80[EUR][1000 genomes]
rs16947144	0.93[EUR][1000 genomes]
rs16947209	0.93[EUR][1000 genomes]
rs16947233	0.93[EUR][1000 genomes]
rs16947295	0.80[EUR][1000 genomes]
rs4094199	0.93[EUR][1000 genomes]
rs41364651	0.80[EUR][1000 genomes]
rs57135901	0.93[EUR][1000 genomes]
rs58882507	0.93[EUR][1000 genomes]
rs59373313	0.80[EUR][1000 genomes]
rs60272946	0.93[EUR][1000 genomes]
rs61178788	0.93[EUR][1000 genomes]
rs61207925	0.93[EUR][1000 genomes]
rs61288722	0.93[EUR][1000 genomes]
rs7133609	0.93[EUR][1000 genomes]
rs7305313	0.80[EUR][1000 genomes]
rs7314897	0.93[EUR][1000 genomes]
rs73395566	0.80[EUR][1000 genomes]
rs73395571	0.80[EUR][1000 genomes]
rs73395601	0.80[EUR][1000 genomes]
rs73397424	0.80[EUR][1000 genomes]
rs73397478	0.93[EUR][1000 genomes]
rs73397488	0.93[EUR][1000 genomes]
rs73399480	0.93[EUR][1000 genomes]
rs73399483	0.93[EUR][1000 genomes]
rs73399502	0.93[EUR][1000 genomes]
rs73403259	0.87[EUR][1000 genomes]
rs73403260	0.87[EUR][1000 genomes]
rs73403261	0.87[EUR][1000 genomes]
rs73403264	0.87[EUR][1000 genomes]
rs73403270	0.87[EUR][1000 genomes]
rs7958175	1.00[EUR][1000 genomes]
rs7959860	0.80[EUR][1000 genomes]
rs7963012	0.80[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	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

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117384800-117450400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr12:117387800-117463600	Weak transcription	HMEC	breast
3	chr12:117393800-117471000	Weak transcription	Small Intestine	intestine
4	chr12:117397000-117442400	Weak transcription	Colonic Mucosa	Colon
5	chr12:117404600-117442400	Weak transcription	HepG2	liver
6	chr12:117405600-117442400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr12:117408200-117442400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:117408400-117432600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:117408400-117452200	Weak transcription	Thymus	Thymus
10	chr12:117411600-117434000	Weak transcription	Brain Angular Gyrus	brain
11	chr12:117411600-117451800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:117412000-117432400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr12:117412200-117432600	Weak transcription	Spleen	Spleen
14	chr12:117412200-117440000	Weak transcription	Esophagus	oesophagus
15	chr12:117417200-117452400	Weak transcription	Psoas Muscle	Psoas
16	chr12:117417400-117453600	Weak transcription	GM12878-XiMat	blood
17	chr12:117418000-117433800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:117418000-117433800	Weak transcription	Lung	lung
19	chr12:117418400-117441800	Weak transcription	K562	blood
20	chr12:117418400-117442400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:117418400-117444600	Weak transcription	HUVEC	blood vessel
22	chr12:117421000-117433800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:117421200-117436400	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:117421200-117438000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:117421200-117438000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr12:117421200-117438200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr12:117421400-117433800	Weak transcription	Aorta	Aorta
28	chr12:117421600-117438000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:117423200-117432600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:117423600-117433800	Weak transcription	NHEK	skin
31	chr12:117425400-117432200	Weak transcription	Fetal Intestine Small	intestine
32	chr12:117425400-117441800	Weak transcription	Gastric	stomach
33	chr12:117425800-117439400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:117426000-117433800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr12:117426200-117466600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr12:117426600-117439600	Weak transcription	Fetal Brain Male	brain
37	chr12:117426800-117445600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:117427000-117439800	Weak transcription	NHLF	lung
39	chr12:117427200-117433800	Weak transcription	Brain Anterior Caudate	brain
40	chr12:117427200-117438000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr12:117427200-117442400	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr12:117427200-117442800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr12:117427400-117432000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:117427800-117443400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr12:117428000-117432800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr12:117428000-117435400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr12:117428000-117436800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:117428000-117442400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr12:117428000-117442400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr12:117428000-117442400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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