Variant report

Variant	rs59577937
Chromosome Location	chr12:42860580-42860581
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:42851425..42853056-chr12:42860476..42863154,2	MCF-7	breast:
2	chr12:42858838..42861541-chr12:42866075..42868198,2	K562	blood:
3	chr12:42858889..42861856-chr12:42862365..42864970,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11829039	1.00[EUR][1000 genomes]
rs11830386	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11831464	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11832196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11832840	1.00[EUR][1000 genomes]
rs11833011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11833109	1.00[EUR][1000 genomes]
rs11833381	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11834665	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11837839	1.00[EUR][1000 genomes]
rs2406968	1.00[EUR][1000 genomes]
rs56691329	1.00[EUR][1000 genomes]
rs57490344	1.00[EUR][1000 genomes]
rs57647260	1.00[EUR][1000 genomes]
rs57955254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58229270	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58676357	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59190545	1.00[EUR][1000 genomes]
rs59645146	1.00[EUR][1000 genomes]
rs60314019	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60982601	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61067658	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7299386	1.00[EUR][1000 genomes]
rs73270269	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73270275	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73270279	1.00[EUR][1000 genomes]
rs73270293	1.00[EUR][1000 genomes]
rs73272004	1.00[EUR][1000 genomes]
rs73272008	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73272013	1.00[EUR][1000 genomes]
rs73272046	1.00[EUR][1000 genomes]
rs73272047	1.00[EUR][1000 genomes]
rs73272050	1.00[EUR][1000 genomes]
rs73272072	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73272073	1.00[EUR][1000 genomes]
rs73272080	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73272091	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73272101	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73273911	1.00[EUR][1000 genomes]
rs73273932	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73273975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73277820	1.00[EUR][1000 genomes]
rs73283759	1.00[EUR][1000 genomes]
rs73283792	1.00[EUR][1000 genomes]
rs73283799	1.00[EUR][1000 genomes]
rs73285617	1.00[EUR][1000 genomes]
rs73285619	1.00[EUR][1000 genomes]
rs73285621	1.00[EUR][1000 genomes]
rs73285641	1.00[EUR][1000 genomes]
rs73285662	1.00[EUR][1000 genomes]
rs73285670	1.00[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	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42816800-42862400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:42831800-42876400	Weak transcription	Psoas Muscle	Psoas
3	chr12:42836000-42875800	Weak transcription	Stomach Mucosa	stomach
4	chr12:42837000-42868800	Weak transcription	Esophagus	oesophagus
5	chr12:42837200-42863200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr12:42840400-42860800	Weak transcription	Colonic Mucosa	Colon
7	chr12:42841400-42862000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:42841600-42862400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:42843000-42862400	Weak transcription	Fetal Thymus	thymus
10	chr12:42843200-42862000	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:42843600-42862400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:42844800-42862600	Weak transcription	Primary T cells from cord blood	blood
13	chr12:42849400-42864800	Strong transcription	Fetal Stomach	stomach
14	chr12:42850000-42860800	Strong transcription	HSMMtube	muscle
15	chr12:42850000-42866400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:42850200-42860600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:42850200-42862800	Strong transcription	NH-A	brain
18	chr12:42850200-42865000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:42850200-42865000	Strong transcription	Fetal Muscle Trunk	muscle
20	chr12:42850200-42865800	Strong transcription	Osteobl	bone
21	chr12:42851400-42860800	Strong transcription	HSMM	muscle
22	chr12:42851800-42863000	Strong transcription	Fetal Muscle Leg	muscle
23	chr12:42852000-42861400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:42852600-42862400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:42852800-42862800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:42853000-42862000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:42853400-42869200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:42854000-42862400	Weak transcription	Brain Anterior Caudate	brain
29	chr12:42854000-42863600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr12:42854000-42865800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr12:42854000-42868600	Weak transcription	Right Ventricle	heart
32	chr12:42854200-42865200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:42854200-42867400	Weak transcription	NHLF	lung
34	chr12:42854400-42864800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr12:42854400-42865200	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr12:42854600-42864800	Strong transcription	H9 Cell Line	embryonic stem cell
37	chr12:42854800-42860600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:42855200-42864000	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:42855400-42864000	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr12:42855400-42865200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:42855800-42860600	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr12:42856200-42860600	Strong transcription	Fetal Lung	lung
43	chr12:42856200-42865800	Strong transcription	HMEC	breast
44	chr12:42856400-42860800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:42856400-42863400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:42856400-42864200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:42856800-42864000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr12:42857000-42860600	Strong transcription	Primary B cells from peripheral blood	blood
49	chr12:42857000-42863000	Weak transcription	Right Atrium	heart
50	chr12:42857400-42860600	Strong transcription	Colon Smooth Muscle	Colon

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