Variant report

Variant	rs59487164
Chromosome Location	chr12:51409491-51409492
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51404460..51409575-chr12:51416331..51420356,8	MCF-7	breast:
2	chr12:51397539..51404278-chr12:51405080..51409503,9	MCF-7	breast:
3	chr12:51408556..51414296-chr12:51415375..51421759,13	MCF-7	breast:
4	chr12:51408168..51409685-chr12:51411443..51413744,2	K562	blood:
5	chr12:51405834..51407705-chr12:51409196..51411163,3	K562	blood:

Variant related genes	Relation type
ENSG00000110911	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11832162	1.00[AMR][1000 genomes]
rs11832863	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11834061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11834248	1.00[AMR][1000 genomes]
rs11834310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11836332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11837720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12308376	1.00[AMR][1000 genomes]
rs13378041	1.00[AMR][1000 genomes]
rs57268497	1.00[AMR][1000 genomes]
rs59268299	1.00[AMR][1000 genomes]
rs60167482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60725885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300028	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73308084	1.00[AMR][1000 genomes]
rs73310015	1.00[AMR][1000 genomes]
rs73310018	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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51386000-51414200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:51399200-51418000	Weak transcription	Gastric	stomach
3	chr12:51399800-51414600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:51399800-51415600	Weak transcription	Right Ventricle	heart
5	chr12:51401000-51410800	Weak transcription	HepG2	liver
6	chr12:51401400-51417800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:51401600-51410000	Weak transcription	Pancreas	Pancrea
8	chr12:51402000-51418000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:51402000-51418000	Weak transcription	Fetal Stomach	stomach
10	chr12:51402400-51415600	Weak transcription	GM12878-XiMat	blood
11	chr12:51402400-51417200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:51402400-51417600	Weak transcription	Left Ventricle	heart
13	chr12:51402400-51418000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:51403000-51418000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:51403400-51415600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:51403400-51417600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:51403600-51410200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:51403600-51412000	Weak transcription	Fetal Intestine Small	intestine
19	chr12:51403600-51414200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr12:51403600-51414400	Weak transcription	Hela-S3	cervix
21	chr12:51403600-51414600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:51403600-51417400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:51403600-51417600	Weak transcription	HSMM	muscle
24	chr12:51403800-51411200	Weak transcription	Fetal Intestine Large	intestine
25	chr12:51403800-51412800	Weak transcription	Primary T cells from cord blood	blood
26	chr12:51403800-51412800	Weak transcription	Dnd41	blood
27	chr12:51403800-51417000	Weak transcription	Brain Germinal Matrix	brain
28	chr12:51404000-51411400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr12:51404200-51411200	Weak transcription	Fetal Thymus	thymus
30	chr12:51404200-51411200	Weak transcription	Ovary	ovary
31	chr12:51404200-51411200	Weak transcription	Thymus	Thymus
32	chr12:51404200-51414600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:51404800-51417800	Weak transcription	Fetal Brain Female	brain
34	chr12:51405800-51415000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr12:51406000-51414600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:51406000-51415200	Weak transcription	Right Atrium	heart
37	chr12:51406400-51417200	Weak transcription	Fetal Brain Male	brain
38	chr12:51406400-51417400	Weak transcription	Osteobl	bone
39	chr12:51406400-51417600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr12:51406600-51413800	Weak transcription	Brain Anterior Caudate	brain
41	chr12:51406800-51414200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:51406800-51415000	Weak transcription	Fetal Heart	heart
43	chr12:51407000-51412800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr12:51407000-51412800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr12:51407000-51414800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr12:51407000-51417400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:51407000-51417600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr12:51407000-51418000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:51407200-51415800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr12:51407400-51411000	Weak transcription	Brain Hippocampus Middle	brain

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