Variant report

Variant	rs62024982
Chromosome Location	chr15:44907893-44907894
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:44907854-44907961	K562	blood:	n/a	n/a
2	STAT3	chr15:44907861-44908017	MCF10A-Er-Src	breast:	n/a	n/a
3	MAFK	chr15:44907827-44908027	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:44907242..44909467-chr15:44911243..44913574,3	K562	blood:
2	chr15:44907437..44912280-chr15:44952989..44956275,4	K562	blood:
3	chr15:44907437..44910398-chr15:44952989..44955507,2	K562	blood:
4	chr15:44906083..44908785-chr15:44913996..44916959,2	MCF-7	breast:
5	chr15:44898335..44900574-chr15:44906493..44909246,2	K562	blood:

No data

Variant related genes	Relation type
SPG11	TF binding region
ENSG00000104133	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs62024988	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6493127	1.00[AFR][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	esv3386433	chr15:44654644-45037538	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 gene(s)	inside rSNPs	diseases
2	nsv1516	chr15:44896162-44941091	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44842000-44951600	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr15:44867400-44954600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:44870000-44928800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr15:44871200-44951200	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr15:44871400-44932200	Strong transcription	Fetal Muscle Trunk	muscle
6	chr15:44871600-44917800	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr15:44871800-44924400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr15:44871800-44925000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr15:44872000-44935600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:44872200-44923200	Strong transcription	Fetal Intestine Large	intestine
11	chr15:44872400-44934400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr15:44873000-44913400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr15:44874800-44928600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:44881800-44934600	Strong transcription	Liver	Liver
15	chr15:44882000-44908200	Strong transcription	Duodenum Mucosa	Duodenum
16	chr15:44884000-44910000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr15:44886200-44917600	Strong transcription	Primary B cells from peripheral blood	blood
18	chr15:44889200-44909200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:44889400-44925600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr15:44890000-44954800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr15:44891800-44930200	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr15:44892200-44929400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr15:44892400-44929400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr15:44892600-44925200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr15:44893800-44925400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr15:44894000-44909800	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr15:44894000-44935600	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr15:44894800-44908000	Strong transcription	Primary B cells from cord blood	blood
29	chr15:44895000-44908000	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr15:44895000-44908200	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr15:44895200-44909600	Strong transcription	Fetal Lung	lung
32	chr15:44896400-44924400	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr15:44897200-44939400	Weak transcription	Stomach Mucosa	stomach
34	chr15:44898200-44910800	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr15:44898800-44910200	Strong transcription	Fetal Thymus	thymus
36	chr15:44899400-44914000	Strong transcription	Fetal Muscle Leg	muscle
37	chr15:44900600-44943400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr15:44900800-44915200	Weak transcription	Esophagus	oesophagus
39	chr15:44900800-44920600	Weak transcription	Fetal Brain Male	brain
40	chr15:44900800-44955000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr15:44901000-44911200	Weak transcription	NH-A	brain
42	chr15:44901000-44920800	Weak transcription	Fetal Heart	heart
43	chr15:44902200-44913200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr15:44902200-44914200	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr15:44902400-44910000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr15:44902400-44930400	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr15:44902600-44925800	Strong transcription	Placenta	Placenta
48	chr15:44903000-44909800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr15:44903000-44925200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr15:44903000-44934400	Strong transcription	Primary T helper cells fromperipheralblood	blood

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