Variant report

Variant	rs12300962
Chromosome Location	chr12:50070175-50070176
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50067484..50070430-chr12:50082743..50084854,2	K562	blood:
2	chr12:50066009..50068301-chr12:50069038..50071401,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10128824	1.00[AMR][1000 genomes]
rs11169110	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169114	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169115	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169120	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169123	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297814	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299477	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299666	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299743	1.00[AMR][1000 genomes]
rs12299751	1.00[AMR][1000 genomes]
rs12300376	0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs12300919	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12306951	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12310580	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12312112	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12313657	1.00[AMR][1000 genomes]
rs12313681	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12314036	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12315508	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12316175	1.00[EUR][1000 genomes]
rs12317162	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12319527	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12320895	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1317263	0.93[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17119738	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17123724	0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs17123729	1.00[EUR][1000 genomes]
rs17123778	0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs17123787	0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17123827	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs17123879	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17123924	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57625108	1.00[EUR][1000 genomes]
rs58039341	1.00[EUR][1000 genomes]
rs61438877	1.00[EUR][1000 genomes]
rs73305101	1.00[EUR][1000 genomes]
rs73306844	1.00[EUR][1000 genomes]
rs73306846	1.00[EUR][1000 genomes]
rs73306864	1.00[EUR][1000 genomes]
rs73306865	1.00[EUR][1000 genomes]
rs73306875	1.00[EUR][1000 genomes]
rs73306891	1.00[EUR][1000 genomes]
rs73309004	1.00[EUR][1000 genomes]
rs73309010	1.00[EUR][1000 genomes]
rs73309013	1.00[EUR][1000 genomes]
rs73309017	1.00[EUR][1000 genomes]
rs73309026	1.00[EUR][1000 genomes]
rs9804867	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9805090	0.83[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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50063800-50070200	Enhancers	Ovary	ovary
2	chr12:50063800-50070600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr12:50063800-50070600	Enhancers	Fetal Lung	lung
4	chr12:50064600-50070200	Enhancers	Fetal Heart	heart
5	chr12:50064600-50070200	Enhancers	Fetal Stomach	stomach
6	chr12:50065600-50070600	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr12:50065600-50071600	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr12:50065800-50071200	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr12:50065800-50071600	Enhancers	Primary T cells from cord blood	blood
10	chr12:50067800-50075200	Weak transcription	Primary B cells from cord blood	blood
11	chr12:50068000-50070200	Enhancers	Brain Hippocampus Middle	brain
12	chr12:50068200-50070200	Enhancers	Adipose Nuclei	Adipose
13	chr12:50068200-50071200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr12:50068200-50072400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:50068200-50077400	Weak transcription	Spleen	Spleen
16	chr12:50068200-50077800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:50068600-50070200	Enhancers	Stomach Smooth Muscle	stomach
18	chr12:50068600-50070600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:50068600-50070600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:50068600-50077600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:50068600-50083600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:50069000-50070200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr12:50069000-50070800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr12:50069000-50076800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:50069200-50070800	Weak transcription	GM12878-XiMat	blood
26	chr12:50069200-50072200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:50069200-50077600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:50069200-50078400	Weak transcription	NHLF	lung
29	chr12:50069400-50070200	Enhancers	HSMMtube	muscle
30	chr12:50069400-50070600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr12:50069400-50071200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:50069400-50072400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:50069400-50073000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:50069400-50073400	Weak transcription	Lung	lung
35	chr12:50069400-50073800	Weak transcription	Right Ventricle	heart
36	chr12:50069400-50074000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:50069400-50074000	Weak transcription	NHDF-Ad	bronchial
38	chr12:50069400-50076600	Weak transcription	Fetal Thymus	thymus
39	chr12:50069400-50076800	Weak transcription	Right Atrium	heart
40	chr12:50069400-50077000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:50069400-50077600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr12:50069400-50077600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:50069400-50077800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:50069400-50078000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr12:50069600-50072400	Weak transcription	Osteobl	bone
46	chr12:50069600-50074600	Weak transcription	Primary B cells from peripheral blood	blood
47	chr12:50069600-50077000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr12:50069600-50078000	Weak transcription	Brain Angular Gyrus	brain
49	chr12:50069600-50078400	Weak transcription	HSMM	muscle
50	chr12:50069600-50078600	Weak transcription	Small Intestine	intestine

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