Variant report

Variant	rs62020666
Chromosome Location	chr15:43026625-43026626
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZEB1	chr15:43026326-43026652	GM12878	blood:	n/a	n/a
2	PAX5	chr15:43026398-43026912	GM12878	blood:	n/a	n/a
3	POLR2A	chr15:43026438-43026656	HUVEC	blood vessel:	n/a	n/a
4	PAX5	chr15:43026494-43026880	GM12878	blood:	n/a	n/a
5	POLR2A	chr15:43026274-43026739	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr15:43026366-43026748	K562	blood:	n/a	n/a
7	PAX5	chr15:43026491-43026836	GM12878	blood:	n/a	n/a
8	POLR2A	chr15:43026504-43026765	K562	blood:	n/a	n/a
9	POLR2A	chr15:43026030-43026909	GM12892	blood:	n/a	n/a
10	NFATC1	chr15:43026381-43026827	GM12878	blood:	n/a	n/a
11	POLR2A	chr15:43026573-43026738	K562	blood:	n/a	n/a
12	POLR2A	chr15:43026393-43026911	SK-N-MC	brain:	n/a	n/a
13	POLR2A	chr15:43025973-43026923	PANC-1	pancreas:	n/a	n/a
14	RUNX3	chr15:43026432-43026943	GM12878	blood:	n/a	n/a
15	MTA3	chr15:43026347-43026833	GM12878	blood:	n/a	n/a
16	POLR2A	chr15:43026384-43026653	GM12878	blood:	n/a	n/a
17	POLR2A	chr15:43026449-43026676	GM12878	blood:	n/a	n/a
18	POLR2A	chr15:43026150-43027332	GM12878	blood:	n/a	n/a
19	RUNX3	chr15:43026482-43026927	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:43019448..43022159-chr15:43025632..43028520,2	MCF-7	breast:
2	chr15:42996049..42999040-chr15:43025539..43027255,2	K562	blood:
3	chr15:43025909..43027534-chr15:43242943..43244599,2	K562	blood:
4	chr15:43024047..43026757-chr15:43034697..43037406,2	K562	blood:
5	chr15:42867986..42870891-chr15:43024060..43026740,2	K562	blood:
6	chr15:43023409..43026970-chr15:43028555..43030726,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000246283	TF binding region
CDAN1	TF binding region
ENSG00000140326	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs62019326	1.00[AFR][1000 genomes]
rs62020665	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs62020680	1.00[AFR][1000 genomes]
rs62020698	1.00[AFR][1000 genomes]
rs62020701	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv427959	chr15:42931181-43207353	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers 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	10 gene(s)	inside rSNPs	diseases
3	nsv457122	chr15:42948862-43062548	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv569238	chr15:42948862-43062548	Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv977054	chr15:43015821-43171355	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43007200-43026800	Strong transcription	Fetal Stomach	stomach
2	chr15:43008000-43027600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr15:43008200-43027600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr15:43008200-43027800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr15:43008600-43027400	Strong transcription	Fetal Brain Female	brain
6	chr15:43008800-43027200	Strong transcription	Brain Germinal Matrix	brain
7	chr15:43008800-43027200	Strong transcription	Lung	lung
8	chr15:43008800-43027400	Strong transcription	Adipose Nuclei	Adipose
9	chr15:43008800-43027800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:43009000-43027400	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr15:43009000-43027600	Strong transcription	Duodenum Smooth Muscle	Duodenum
12	chr15:43009000-43027800	Strong transcription	Fetal Intestine Large	intestine
13	chr15:43009200-43027800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr15:43009600-43027400	Strong transcription	Fetal Intestine Small	intestine
15	chr15:43009600-43027800	Strong transcription	Left Ventricle	heart
16	chr15:43010000-43027200	Strong transcription	Skeletal Muscle Female	skeletal muscle
17	chr15:43010000-43027400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr15:43010000-43027600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:43010000-43027600	Strong transcription	Brain Anterior Caudate	brain
20	chr15:43010000-43027600	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr15:43010200-43027400	Strong transcription	Primary T cells from cord blood	blood
22	chr15:43010200-43027600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr15:43010200-43027600	Strong transcription	Ovary	ovary
24	chr15:43010200-43027800	Strong transcription	Gastric	stomach
25	chr15:43010400-43026800	Strong transcription	Stomach Smooth Muscle	stomach
26	chr15:43010400-43026800	Strong transcription	Thymus	Thymus
27	chr15:43010400-43027600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr15:43010400-43027800	Strong transcription	Placenta	Placenta
29	chr15:43011000-43026800	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr15:43011000-43027200	Strong transcription	Duodenum Mucosa	Duodenum
31	chr15:43011200-43027600	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr15:43011400-43027600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr15:43011600-43028000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr15:43011800-43027000	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr15:43011800-43027800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr15:43012000-43027200	Strong transcription	Liver	Liver
37	chr15:43013800-43027000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr15:43013800-43027400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr15:43014000-43027800	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr15:43014200-43026800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr15:43014200-43027600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr15:43014200-43027800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr15:43014400-43027600	Strong transcription	Right Ventricle	heart
44	chr15:43014600-43026800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr15:43014600-43027600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr15:43014600-43027800	Strong transcription	Fetal Thymus	thymus
47	chr15:43014800-43027000	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr15:43014800-43027600	Strong transcription	Osteobl	bone
49	chr15:43014800-43027800	Strong transcription	NHEK	skin
50	chr15:43015000-43026800	Strong transcription	Primary T cells fromperipheralblood	blood

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