Variant report

Variant	rs11537458
Chromosome Location	chr12:123734082-123734083
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:123733846-123734139	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:123733990-123734423	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr12:123733796-123734159	A549	lung:	n/a	n/a
4	POLR2A	chr12:123733943-123734163	HepG2	liver:	n/a	n/a
5	FOSL2	chr12:123733880-123734158	HepG2	liver:	n/a	n/a
6	POLR2A	chr12:123733767-123734394	A549	lung:	n/a	n/a
7	POLR2A	chr12:123733783-123734087	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr12:123733595-123734486	SK-N-MC	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123714199..123721299-chr12:123733822..123739052,7	MCF-7	breast:
2	chr12:123733760..123735468-chr12:123740461..123742402,2	K562	blood:
3	chr12:123733810..123737382-chr12:123754694..123758405,4	MCF-7	breast:
4	chr12:123715816..123718191-chr12:123733182..123735641,3	K562	blood:
5	chr12:123728345..123730190-chr12:123734058..123735826,2	MCF-7	breast:
6	chr12:123733838..123737944-chr12:123742344..123746385,6	MCF-7	breast:

No data

Variant related genes	Relation type
C12orf65	TF binding region
ENSG00000051825	Chromatin interaction
ENSG00000111328	Chromatin interaction
ENSG00000235423	Chromatin interaction
ENSG00000130921	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10846484	0.87[ASN][1000 genomes]
rs10846485	0.87[ASN][1000 genomes]
rs11057226	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv1803368	chr12:123640853-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	esv1830566	chr12:123640853-123822503	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	esv1836043	chr12:123709409-123822503	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123718800-123739600	Weak transcription	Fetal Kidney	kidney
2	chr12:123719000-123735000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:123719200-123735200	Weak transcription	Ovary	ovary
4	chr12:123719600-123734200	Weak transcription	Colonic Mucosa	Colon
5	chr12:123719600-123738400	Weak transcription	NH-A	brain
6	chr12:123720000-123736000	Weak transcription	Gastric	stomach
7	chr12:123720000-123738000	Weak transcription	Small Intestine	intestine
8	chr12:123720200-123735200	Weak transcription	Pancreas	Pancrea
9	chr12:123721600-123735200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:123723400-123735000	Weak transcription	Stomach Mucosa	stomach
11	chr12:123724600-123735200	Weak transcription	Placenta	Placenta
12	chr12:123725200-123738000	Weak transcription	HSMM	muscle
13	chr12:123725800-123746400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr12:123726600-123735200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr12:123727000-123735000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:123727200-123735000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:123727200-123735000	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:123727200-123735000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr12:123727200-123735200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:123727400-123734800	Weak transcription	Hela-S3	cervix
21	chr12:123727400-123735000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:123727400-123735000	Weak transcription	Brain Anterior Caudate	brain
23	chr12:123727400-123735000	Weak transcription	Brain Substantia Nigra	brain
24	chr12:123727400-123735000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr12:123727400-123735200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr12:123727400-123735200	Weak transcription	Brain Angular Gyrus	brain
27	chr12:123727400-123735200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr12:123727400-123735200	Weak transcription	Fetal Brain Male	brain
29	chr12:123727400-123735400	Weak transcription	Right Atrium	heart
30	chr12:123727400-123736000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:123727400-123738000	Weak transcription	NHDF-Ad	bronchial
32	chr12:123727400-123738200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:123727600-123735000	Weak transcription	Left Ventricle	heart
34	chr12:123727600-123735000	Weak transcription	HepG2	liver
35	chr12:123727600-123735200	Weak transcription	Adipose Nuclei	Adipose
36	chr12:123727600-123735200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr12:123727600-123735200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr12:123727600-123736400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:123727600-123738000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr12:123727600-123738000	Weak transcription	HUVEC	blood vessel
41	chr12:123727600-123739200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr12:123727800-123734200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr12:123727800-123735400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:123727800-123738200	Weak transcription	Fetal Heart	heart
45	chr12:123728000-123735000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr12:123728400-123735200	Weak transcription	Colon Smooth Muscle	Colon
47	chr12:123729400-123735000	Strong transcription	Fetal Thymus	thymus
48	chr12:123731800-123734200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:123731800-123735600	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr12:123732000-123738200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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