Variant report

Variant	rs12320895
Chromosome Location	chr12:50091299-50091300
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50090621..50092463-chr12:50096171..50099106,4	K562	blood:
2	chr12:50090502..50093036-chr12:50100960..50102656,3	MCF-7	breast:
3	chr12:50021570..50023423-chr12:50090979..50093576,2	K562	blood:
4	chr12:50080406..50083815-chr12:50089731..50092749,3	MCF-7	breast:
5	chr12:50080143..50085132-chr12:50089232..50093203,6	K562	blood:
6	chr12:50081616..50083290-chr12:50091244..50093003,2	K562	blood:
7	chr12:50090084..50092564-chr12:50099997..50102859,2	K562	blood:

Variant related genes	Relation type
ENSG00000161791	Chromatin interaction
ENSG00000139644	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10128824	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169110	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169114	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169115	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169120	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297814	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299743	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299751	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12300919	0.83[AFR][1000 genomes]
rs12300962	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12306951	1.00[AMR][1000 genomes]
rs12310580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12312112	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12313657	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12313681	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12314036	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12315508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12317162	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12319527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1317263	1.00[AMR][1000 genomes]
rs17119738	1.00[AMR][1000 genomes]
rs17123787	1.00[AMR][1000 genomes]
rs17123827	1.00[AMR][1000 genomes]
rs17123879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17123924	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9804867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9805090	0.96[AFR][1000 genomes];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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50078600-50092200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:50078800-50091800	Weak transcription	NH-A	brain
3	chr12:50078800-50092400	Weak transcription	NHLF	lung
4	chr12:50079000-50092000	Weak transcription	Small Intestine	intestine
5	chr12:50079000-50096200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:50079200-50092400	Weak transcription	Fetal Stomach	stomach
7	chr12:50079200-50092800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:50080800-50092800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr12:50082000-50092800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:50082200-50092000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:50082200-50092800	Weak transcription	Aorta	Aorta
12	chr12:50083400-50092800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:50083600-50092800	Weak transcription	Lung	lung
14	chr12:50083800-50092400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr12:50084800-50091800	Weak transcription	K562	blood
16	chr12:50084800-50092000	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr12:50085000-50092000	Weak transcription	Fetal Thymus	thymus
18	chr12:50085000-50092000	Weak transcription	Dnd41	blood
19	chr12:50085000-50092600	Weak transcription	Stomach Mucosa	stomach
20	chr12:50085200-50092000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr12:50085400-50092000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr12:50085400-50092800	Weak transcription	Right Ventricle	heart
23	chr12:50085600-50091800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:50086800-50092000	Weak transcription	Brain Angular Gyrus	brain
25	chr12:50088400-50091800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:50088400-50091800	Weak transcription	Osteobl	bone
27	chr12:50088400-50092000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:50088400-50092200	Weak transcription	NHDF-Ad	bronchial
29	chr12:50088600-50091800	Weak transcription	HSMM	muscle
30	chr12:50088600-50092000	Weak transcription	Placenta	Placenta
31	chr12:50088600-50092200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:50088600-50092400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:50089000-50092000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr12:50089200-50092000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr12:50089200-50092400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr12:50089200-50093400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:50089400-50091800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr12:50089400-50092000	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr12:50089600-50092000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:50089600-50092400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:50089800-50093200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr12:50089800-50093200	Enhancers	Brain Cingulate Gyrus	brain
43	chr12:50090000-50091400	Enhancers	Left Ventricle	heart
44	chr12:50090000-50092800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:50090200-50092400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr12:50090200-50092400	Enhancers	Adipose Nuclei	Adipose
47	chr12:50090200-50092600	Enhancers	Primary B cells from peripheral blood	blood
48	chr12:50090400-50092000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr12:50090600-50092000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr12:50090600-50092200	Enhancers	H1 Cell Line	embryonic stem cell

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