Variant report

Variant	rs28412297
Chromosome Location	chr13:30426610-30426611
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PBX3	chr13:30426512-30427005	SK-N-SH	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:30424847..30426719-chr13:30430833..30432673,4	MCF-7	breast:
2	chr13:30421278..30427133-chr13:30682148..30691157,22	MCF-7	breast:
3	chr13:30420595..30432624-chr13:30489594..30503683,39	MCF-7	breast:
4	chr13:30425761..30427408-chr13:30430523..30432297,2	MCF-7	breast:
5	chr13:30422516..30424271-chr13:30426326..30429271,2	K562	blood:

No data

Variant related genes	Relation type
UBL3	TF binding region
ENSG00000224511	Chromatin interaction
ENSG00000224405	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11843295	1.00[AMR][1000 genomes]
rs17073884	1.00[AMR][1000 genomes]
rs59191836	1.00[AMR][1000 genomes]
rs61497074	1.00[AMR][1000 genomes]
rs73446257	1.00[AMR][1000 genomes]
rs73446273	1.00[AMR][1000 genomes]
rs73446281	1.00[AMR][1000 genomes]
rs73446285	1.00[AMR][1000 genomes]
rs73448207	1.00[AMR][1000 genomes]
rs73448217	1.00[AMR][1000 genomes]
rs7993370	1.00[AMR][1000 genomes]
rs7997787	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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30424800-30427600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:30424800-30429600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:30425200-30426800	Weak transcription	Colon Smooth Muscle	Colon
4	chr13:30425200-30427600	Enhancers	A549	lung
5	chr13:30425200-30428400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:30425200-30429600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr13:30425200-30429800	Weak transcription	Fetal Intestine Small	intestine
8	chr13:30425200-30429800	Weak transcription	Pancreas	Pancrea
9	chr13:30425200-30430000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr13:30425200-30430200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr13:30425200-30430200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr13:30425400-30426800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:30425400-30426800	Weak transcription	NH-A	brain
14	chr13:30425400-30428600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr13:30425400-30429600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:30425400-30429800	Weak transcription	Fetal Lung	lung
17	chr13:30425400-30429800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr13:30425400-30429800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr13:30425400-30430000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:30425400-30430000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr13:30425400-30430000	Weak transcription	Stomach Mucosa	stomach
22	chr13:30425400-30430200	Weak transcription	Fetal Kidney	kidney
23	chr13:30425600-30429800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr13:30425600-30429800	Weak transcription	Hela-S3	cervix
25	chr13:30425800-30427200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr13:30426000-30427400	Enhancers	HSMM	muscle
27	chr13:30426000-30427800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr13:30426200-30427600	Enhancers	Placenta Amnion	Placenta Amnion
29	chr13:30426400-30426800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr13:30426400-30427200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr13:30426400-30427400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr13:30426400-30427400	Enhancers	NHDF-Ad	bronchial
33	chr13:30426400-30427600	Enhancers	Adipose Nuclei	Adipose
34	chr13:30426400-30427600	Enhancers	Osteobl	bone
35	chr13:30426600-30426800	Enhancers	Psoas Muscle	Psoas
36	chr13:30426600-30426800	Enhancers	Right Atrium	heart
37	chr13:30426600-30427000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr13:30426600-30427000	Enhancers	NHLF	lung
39	chr13:30426600-30427200	Enhancers	HSMMtube	muscle
40	chr13:30426600-30427600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr13:30426600-30427600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr13:30426600-30427800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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