Variant report

Variant	rs73395601
Chromosome Location	chr12:117366822-117366823
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117348721..117350457-chr12:117364988..117367917,3	MCF-7	breast:
2	chr12:117359173..117361921-chr12:117365401..117367494,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174989	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1032528	0.93[EUR][1000 genomes]
rs1051879	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11068246	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068255	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11836743	0.80[EUR][1000 genomes]
rs12099584	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12308592	1.00[AMR][1000 genomes]
rs12313248	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12316811	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12317604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12321592	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16947122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16947131	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16947144	0.86[EUR][1000 genomes]
rs16947209	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16947233	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4094199	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41364651	1.00[EUR][1000 genomes]
rs4451816	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57135901	0.86[EUR][1000 genomes]
rs58882507	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59373313	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59623332	0.80[EUR][1000 genomes]
rs60272946	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61178788	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61207925	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61288722	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7133142	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7133609	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7136880	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7302713	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7305313	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7314897	0.86[EUR][1000 genomes]
rs73395566	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73395571	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397424	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397478	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73397488	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73399480	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73399483	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73399502	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7958175	0.80[EUR][1000 genomes]
rs7959860	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7963012	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1046811	chr12:117353904-117396230	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
3	esv1798657	chr12:117354067-117392259	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
4	nsv1048942	chr12:117365506-117400588	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117349800-117371000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:117350200-117367800	Weak transcription	Brain Germinal Matrix	brain
3	chr12:117350200-117371000	Weak transcription	Right Ventricle	heart
4	chr12:117350600-117370600	Weak transcription	Fetal Brain Male	brain
5	chr12:117354800-117383200	Weak transcription	Esophagus	oesophagus
6	chr12:117357200-117367600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr12:117357800-117367600	Weak transcription	Fetal Heart	heart
8	chr12:117358400-117392600	Weak transcription	Small Intestine	intestine
9	chr12:117358800-117374000	Weak transcription	Colonic Mucosa	Colon
10	chr12:117359200-117367400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:117363000-117367400	Weak transcription	HepG2	liver
12	chr12:117363200-117371200	Weak transcription	Stomach Mucosa	stomach
13	chr12:117363200-117399400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:117363400-117370000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:117363400-117373400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:117363400-117375200	Weak transcription	HMEC	breast
17	chr12:117363400-117381000	Weak transcription	NHEK	skin
18	chr12:117363400-117381400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:117363400-117385000	Weak transcription	HUVEC	blood vessel
20	chr12:117363600-117375000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:117363800-117371000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr12:117363800-117374000	Weak transcription	Thymus	Thymus
23	chr12:117364000-117371800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr12:117364000-117372000	Strong transcription	Primary B cells from cord blood	blood
25	chr12:117364200-117367600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:117364200-117367800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:117364200-117372600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr12:117364800-117367200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:117364800-117368000	Strong transcription	Osteobl	bone
30	chr12:117364800-117368200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr12:117364800-117372800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:117364800-117374000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:117365000-117367200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:117365000-117367200	Strong transcription	Left Ventricle	heart
35	chr12:117365000-117367400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:117365000-117370800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr12:117365000-117371000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:117365000-117371000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr12:117365000-117383200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr12:117365000-117383400	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr12:117365000-117406000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr12:117365200-117367800	Strong transcription	Primary B cells from peripheral blood	blood
43	chr12:117365200-117367800	Strong transcription	Fetal Stomach	stomach
44	chr12:117365200-117371000	Weak transcription	Brain Substantia Nigra	brain
45	chr12:117365200-117371200	Weak transcription	Brain Angular Gyrus	brain
46	chr12:117365400-117367000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:117365400-117367200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:117365400-117368200	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr12:117365400-117368600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr12:117365400-117368800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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