Variant report

Variant	rs62020665
Chromosome Location	chr15:43020324-43020325
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:43019859-43020514	GM12878	blood:	n/a	n/a
2	NFIC	chr15:43019881-43020395	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr15:43018561-43020855	K562	blood:	n/a	n/a
4	POLR2A	chr15:43020087-43020521	K562	blood:	n/a	n/a
5	POLR2A	chr15:43019635-43020401	GM12878	blood:	n/a	n/a
6	POLR2A	chr15:43020290-43020345	HepG2	liver:	n/a	n/a
7	POLR2A	chr15:43019960-43020386	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43020195..43022907-chr15:43026273..43029275,3	MCF-7	breast:
2	chr15:43019448..43022159-chr15:43025632..43028520,2	MCF-7	breast:

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

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs62019326	1.00[AFR][1000 genomes]
rs62020666	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:6 , 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	nsv517553	chr15:42970899-43023482	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
6	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	chr15:43007800-43020800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:43008000-43027600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr15:43008200-43027600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr15:43008200-43027800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:43008400-43020400	Strong transcription	Brain Substantia Nigra	brain
7	chr15:43008600-43027400	Strong transcription	Fetal Brain Female	brain
8	chr15:43008800-43026600	Strong transcription	Skeletal Muscle Male	skeletal muscle
9	chr15:43008800-43027200	Strong transcription	Brain Germinal Matrix	brain
10	chr15:43008800-43027200	Strong transcription	Lung	lung
11	chr15:43008800-43027400	Strong transcription	Adipose Nuclei	Adipose
12	chr15:43008800-43027800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:43009000-43027400	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr15:43009000-43027600	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr15:43009000-43027800	Strong transcription	Fetal Intestine Large	intestine
16	chr15:43009200-43027800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr15:43009600-43026600	Strong transcription	Spleen	Spleen
18	chr15:43009600-43027400	Strong transcription	Fetal Intestine Small	intestine
19	chr15:43009600-43027800	Strong transcription	Left Ventricle	heart
20	chr15:43009800-43020800	Weak transcription	Stomach Mucosa	stomach
21	chr15:43010000-43027200	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr15:43010000-43027400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr15:43010000-43027600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr15:43010000-43027600	Strong transcription	Brain Anterior Caudate	brain
25	chr15:43010000-43027600	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr15:43010200-43027400	Strong transcription	Primary T cells from cord blood	blood
27	chr15:43010200-43027600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr15:43010200-43027600	Strong transcription	Ovary	ovary
29	chr15:43010200-43027800	Strong transcription	Gastric	stomach
30	chr15:43010400-43026800	Strong transcription	Stomach Smooth Muscle	stomach
31	chr15:43010400-43026800	Strong transcription	Thymus	Thymus
32	chr15:43010400-43027600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr15:43010400-43027800	Strong transcription	Placenta	Placenta
34	chr15:43010800-43020600	Strong transcription	Fetal Lung	lung
35	chr15:43011000-43026600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr15:43011000-43026800	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr15:43011000-43027200	Strong transcription	Duodenum Mucosa	Duodenum
38	chr15:43011200-43020400	Strong transcription	Primary B cells from cord blood	blood
39	chr15:43011200-43027600	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr15:43011400-43027600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr15:43011600-43022800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr15:43011600-43028000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr15:43011800-43026400	Strong transcription	Primary B cells from peripheral blood	blood
44	chr15:43011800-43027000	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr15:43011800-43027800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr15:43012000-43027200	Strong transcription	Liver	Liver
47	chr15:43012200-43026400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr15:43012400-43020600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr15:43012600-43026000	Strong transcription	Dnd41	blood
50	chr15:43013400-43021600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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