Variant report

Variant	rs58060255
Chromosome Location	chr12:57986008-57986009
allele	C/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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57983190..57986031-chr12:58086563..58089648,3	K562	blood:
2	chr12:57919943..57923943-chr12:57984305..57987540,4	MCF-7	breast:
3	chr12:57914619..57916153-chr12:57984112..57986210,2	K562	blood:
4	chr12:57941183..57943777-chr12:57985208..57987088,2	K562	blood:
5	chr12:57984280..57986133-chr12:58130711..58132725,2	K562	blood:
6	chr12:57983454..57989400-chr12:57989791..58002327,29	MCF-7	breast:
7	chr12:57912627..57914339-chr12:57984799..57986574,2	MCF-7	breast:
8	chr12:57914616..57917014-chr12:57985280..57987020,2	K562	blood:
9	chr12:57984405..57986520-chr12:58117809..58119763,2	MCF-7	breast:
10	chr12:57983953..57986282-chr12:58144732..58146492,2	K562	blood:
11	chr12:57911734..57914135-chr12:57985520..57988128,2	K562	blood:
12	chr12:57983992..57986489-chr12:58138776..58141177,2	MCF-7	breast:
13	chr12:57983862..57986521-chr12:58113615..58115210,2	MCF-7	breast:
14	chr12:57985447..57987407-chr12:58128480..58131325,2	MCF-7	breast:
15	chr12:57983573..57987941-chr12:58024849..58028209,5	MCF-7	breast:
16	chr12:57985035..57986943-chr12:58137813..58139906,2	K562	blood:
17	chr12:57940234..57941945-chr12:57983939..57986632,2	MCF-7	breast:
18	chr12:57939429..57943777-chr12:57984797..57987088,3	K562	blood:
19	chr12:57984385..57986376-chr12:58138351..58140314,2	K562	blood:
20	chr12:57942322..57945252-chr12:57983891..57986391,2	MCF-7	breast:
21	chr12:57869564..57871597-chr12:57983396..57986014,2	K562	blood:
22	chr12:57983700..57986584-chr12:58162901..58165594,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000123329	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000135446	Chromatin interaction
ENSG00000175203	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000135439	Chromatin interaction
ENSG00000037897	Chromatin interaction
ENSG00000135506	Chromatin interaction
ENSG00000257499	Chromatin interaction
ENSG00000155980	Chromatin interaction
ENSG00000208028	Chromatin interaction
ENSG00000178498	Chromatin interaction
ENSG00000123427	Chromatin interaction
ENSG00000135452	Chromatin interaction
ENSG00000166908	Chromatin interaction
ENSG00000135454	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs57989706	0.81[AFR][1000 genomes]
rs59166749	0.91[AFR][1000 genomes]
rs73346063	1.00[AFR][1000 genomes]
rs73346089	0.81[AFR][1000 genomes]
rs73346092	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	nsv725	chr12:57966549-57993808	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57984000-57986400	Flanking Active TSS	Dnd41	blood
2	chr12:57984200-57986200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr12:57984200-57986200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr12:57984200-57986200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:57984200-57986200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:57984200-57986400	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr12:57984600-57986200	Active TSS	Brain Hippocampus Middle	brain
8	chr12:57984600-57986200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr12:57984600-57987000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:57984800-57986600	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr12:57985000-57986200	Active TSS	Muscle Satellite Cultured Cells	--
12	chr12:57985200-57986200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
13	chr12:57985200-57986400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr12:57985400-57986200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:57985400-57986200	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr12:57985400-57986200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr12:57985400-57986200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:57985400-57986200	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr12:57985400-57986200	Flanking Active TSS	Fetal Brain Male	brain
20	chr12:57985400-57986200	Flanking Active TSS	Fetal Brain Female	brain
21	chr12:57985400-57986200	Flanking Active TSS	Fetal Muscle Leg	muscle
22	chr12:57985400-57986200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr12:57985400-57986200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr12:57985400-57986200	Flanking Active TSS	Spleen	Spleen
25	chr12:57985600-57986200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:57985600-57986200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr12:57985600-57986200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:57985600-57986200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:57985600-57986200	Flanking Active TSS	Brain Angular Gyrus	brain
30	chr12:57985600-57986200	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr12:57985600-57986200	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr12:57985600-57986200	Flanking Active TSS	Colon Smooth Muscle	Colon
33	chr12:57985600-57986200	Flanking Active TSS	Fetal Stomach	stomach
34	chr12:57985600-57986200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr12:57985600-57986200	Flanking Active TSS	A549	lung
36	chr12:57985600-57986200	Flanking Active TSS	GM12878-XiMat	blood
37	chr12:57985600-57986200	Flanking Active TSS	HepG2	liver
38	chr12:57985600-57986200	Flanking Active TSS	Osteobl	bone
39	chr12:57985600-57986400	Flanking Active TSS	Stomach Mucosa	stomach
40	chr12:57985600-57986400	Flanking Active TSS	Hela-S3	cervix
41	chr12:57985600-57986600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr12:57985600-57986600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr12:57985600-57986600	Flanking Active TSS	K562	blood
44	chr12:57985600-57986600	Flanking Active TSS	NHEK	skin
45	chr12:57985600-57986800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:57985800-57986200	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr12:57985800-57986200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
48	chr12:57985800-57986200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:57985800-57986200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr12:57985800-57986200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell

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