Variant report

Variant	rs12465534
Chromosome Location	chr2:10471160-10471161
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10462943..10465722-chr2:10469656..10471282,2	MCF-7	breast:
2	chr2:10470453..10473280-chr2:10497686..10499663,2	K562	blood:
3	chr2:10471045..10473599-chr2:10487391..10488938,2	K562	blood:
4	chr2:10445536..10447284-chr2:10469328..10472288,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115756	Chromatin interaction

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

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

rs_ID	r²[population]
rs12476711	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35434412	0.94[EUR][1000 genomes]
rs4669571	0.89[EUR][1000 genomes]
rs6716188	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71439003	0.88[EUR][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	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873639	chr2:10372061-10475308	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10463200-10471400	Enhancers	Liver	Liver
2	chr2:10463400-10473600	Enhancers	Lung	lung
3	chr2:10464200-10473600	Enhancers	Fetal Intestine Large	intestine
4	chr2:10465600-10473000	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr2:10466200-10473600	Genic enhancers	Fetal Intestine Small	intestine
6	chr2:10466400-10472800	Weak transcription	Fetal Kidney	kidney
7	chr2:10466600-10472200	Enhancers	Left Ventricle	heart
8	chr2:10467000-10471400	Enhancers	K562	blood
9	chr2:10467200-10482800	Weak transcription	Psoas Muscle	Psoas
10	chr2:10467600-10471800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:10467600-10472400	Weak transcription	Fetal Heart	heart
12	chr2:10467600-10472800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:10468000-10473800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:10468200-10471200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr2:10468400-10473800	Enhancers	Spleen	Spleen
16	chr2:10468600-10472200	Enhancers	Small Intestine	intestine
17	chr2:10468600-10477800	Weak transcription	Brain Angular Gyrus	brain
18	chr2:10468800-10473800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:10469400-10471200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:10469400-10471200	Enhancers	Colon Smooth Muscle	Colon
21	chr2:10469400-10472000	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr2:10469400-10472200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr2:10469400-10472800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr2:10469400-10473000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr2:10469400-10473800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr2:10469400-10474200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:10469600-10471400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:10469600-10471400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:10469600-10471400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:10469600-10471800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:10469600-10472400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr2:10469600-10472800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr2:10469600-10473000	Enhancers	Right Atrium	heart
34	chr2:10469600-10473600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:10469600-10473600	Enhancers	Fetal Lung	lung
36	chr2:10469600-10473800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr2:10469600-10473800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr2:10469600-10473800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:10469600-10474200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:10469800-10471200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:10469800-10471200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr2:10469800-10471400	Enhancers	Placenta	Placenta
43	chr2:10469800-10471800	Enhancers	HSMMtube	muscle
44	chr2:10469800-10472200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:10469800-10472400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
46	chr2:10469800-10472400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:10469800-10472400	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr2:10469800-10472600	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr2:10469800-10472800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr2:10469800-10472800	Enhancers	Fetal Brain Male	brain

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