Variant report

Variant	rs59166749
Chromosome Location	chr12:57999645-57999646
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57998188..58000440-chr12:58014339..58016922,2	MCF-7	breast:
2	chr12:57999383..58001566-chr12:58144554..58147066,2	K562	blood:
3	chr12:57999349..58001291-chr12:58136626..58138684,2	MCF-7	breast:
4	chr12:57997608..58000545-chr12:58238111..58240464,2	MCF-7	breast:
5	chr12:57983454..57989400-chr12:57989791..58002327,29	MCF-7	breast:
6	chr12:57940405..57942301-chr12:57997757..58000737,2	MCF-7	breast:
7	chr12:57997114..58001112-chr12:58025485..58030490,5	MCF-7	breast:
8	chr12:57997150..58000080-chr12:58158932..58161067,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000111012	Chromatin interaction
ENSG00000135446	Chromatin interaction
ENSG00000175215	Chromatin interaction
ENSG00000135454	Chromatin interaction
ENSG00000175203	Chromatin interaction
ENSG00000135452	Chromatin interaction
ENSG00000166908	Chromatin interaction
ENSG00000135502	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs57624896	0.81[AFR][1000 genomes]
rs57989706	0.91[AFR][1000 genomes]
rs58060255	0.91[AFR][1000 genomes]
rs59193499	0.81[AFR][1000 genomes]
rs73335926	0.81[AFR][1000 genomes]
rs73335930	0.81[AFR][1000 genomes]
rs73335931	0.81[AFR][1000 genomes]
rs73338203	0.81[AFR][1000 genomes]
rs73346063	0.91[AFR][1000 genomes]
rs73346089	0.91[AFR][1000 genomes]
rs73346092	0.91[AFR][1000 genomes]
rs73347951	0.81[AFR][1000 genomes]
rs73349943	0.81[AFR][1000 genomes]
rs73351685	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1812398	chr12:57829733-58001868	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2758310	chr12:57829733-58001868	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv2759901	chr12:57829733-58001868	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	nsv428283	chr12:57829733-58001868	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	nsv559034	chr12:57859932-58012233	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
6	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
7	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
8	nsv541504	chr12:57958701-58062311	Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57997800-57999800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr12:57998000-57999800	Flanking Active TSS	Thymus	Thymus
3	chr12:57998400-57999800	Bivalent/Poised TSS	Psoas Muscle	Psoas
4	chr12:57999000-57999800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:57999000-57999800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:57999000-57999800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:57999000-57999800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:57999000-57999800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
9	chr12:57999000-57999800	Flanking Active TSS	Left Ventricle	heart
10	chr12:57999000-57999800	Flanking Active TSS	HSMMtube	muscle
11	chr12:57999000-58000000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr12:57999000-58000000	Flanking Active TSS	Brain Angular Gyrus	brain
13	chr12:57999000-58000200	Flanking Active TSS	Fetal Brain Female	brain
14	chr12:57999200-57999800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
15	chr12:57999200-57999800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr12:57999200-57999800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr12:57999200-57999800	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr12:57999200-57999800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:57999200-57999800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr12:57999200-57999800	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr12:57999200-57999800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
22	chr12:57999200-57999800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:57999200-57999800	Bivalent Enhancer	Placenta	Placenta
24	chr12:57999200-57999800	Enhancers	Spleen	Spleen
25	chr12:57999200-57999800	Flanking Active TSS	Osteobl	bone
26	chr12:57999200-58000000	Flanking Active TSS	Brain Anterior Caudate	brain
27	chr12:57999200-58000000	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr12:57999400-57999800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr12:57999400-57999800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:57999400-57999800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:57999400-57999800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:57999400-57999800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr12:57999400-57999800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr12:57999400-57999800	Enhancers	Primary T cells from cord blood	blood
35	chr12:57999400-57999800	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr12:57999400-57999800	Enhancers	Duodenum Mucosa	Duodenum
37	chr12:57999400-57999800	Bivalent Enhancer	Fetal Intestine Large	intestine
38	chr12:57999400-57999800	Enhancers	Pancreas	Pancrea
39	chr12:57999400-57999800	Enhancers	A549	lung
40	chr12:57999400-57999800	Enhancers	Dnd41	blood
41	chr12:57999400-57999800	Enhancers	NHDF-Ad	bronchial
42	chr12:57999400-58000000	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr12:57999400-58000000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr12:57999400-58000000	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr12:57999400-58000000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:57999400-58000000	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
47	chr12:57999400-58000000	Enhancers	Fetal Brain Male	brain
48	chr12:57999400-58000000	Flanking Active TSS	Rectal Smooth Muscle	rectum
49	chr12:57999400-58000200	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr12:57999400-58000200	Genic enhancers	Fetal Stomach	stomach

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