Variant report

Variant	rs58500366
Chromosome Location	chr15:44833702-44833703
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	chr15:44833167-44833966	GM12878	blood:	n/a	n/a
2	POLR2A	chr15:44833259-44833767	GM12891	blood:	n/a	n/a
3	NFIC	chr15:44833535-44834303	SK-N-SH	brain:	n/a	n/a
4	NFIC	chr15:44833599-44834233	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr15:44833634-44834096	Hela-S3	cervix:	n/a	n/a
6	NFIC	chr15:44833668-44834167	ECC-1	luminal epithelium:	n/a	n/a
7	GATA3	chr15:44833667-44834228	SK-N-SH	brain:	n/a	chr15:44833813-44833825 chr15:44833815-44833823
8	POLR2A	chr15:44832782-44835600	K562	blood:	n/a	n/a
9	POLR2A	chr15:44833245-44834100	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr15:44833222-44833797	GM12892	blood:	n/a	n/a
11	POLR2A	chr15:44833236-44835010	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr15:44833339-44833810	GM12891	blood:	n/a	n/a
13	POLR2A	chr15:44832876-44833768	HepG2	liver:	n/a	n/a
14	POLR2A	chr15:44833370-44835120	HepG2	liver:	n/a	n/a
15	POLR2A	chr15:44833559-44833820	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:44820064..44823122-chr15:44832148..44835068,3	K562	blood:
2	chr15:44627409..44629841-chr15:44832460..44835215,2	MCF-7	breast:
3	chr15:44717666..44720923-chr15:44833065..44836487,4	K562	blood:
4	chr1:8938653..8939154-chr15:44833256..44834225,2	Hela-S3	cervix:

Variant related genes	Relation type
EIF3J-AS1	TF binding region
ENSG00000074800	Chromatin interaction
ENSG00000137770	Chromatin interaction
ENSG00000230679	Chromatin interaction
ENSG00000259595	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12592739	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12593352	1.00[AFR][1000 genomes]
rs62025033	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	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44830400-44835400	Weak transcription	Pancreas	Pancrea
2	chr15:44830400-44835600	Weak transcription	Gastric	stomach
3	chr15:44830400-44844000	Weak transcription	Lung	lung
4	chr15:44830400-44844400	Weak transcription	Spleen	Spleen
5	chr15:44830400-44848600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:44830400-44850200	Weak transcription	Aorta	Aorta
7	chr15:44830400-44855200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr15:44830400-44855200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:44830600-44835400	Weak transcription	Right Atrium	heart
10	chr15:44830800-44840400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr15:44830800-44844400	Weak transcription	Colonic Mucosa	Colon
12	chr15:44831000-44834000	Weak transcription	Brain Hippocampus Middle	brain
13	chr15:44831000-44834800	Genic enhancers	Dnd41	blood
14	chr15:44831000-44836200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:44831000-44838000	Weak transcription	Stomach Mucosa	stomach
16	chr15:44831000-44844000	Weak transcription	Thymus	Thymus
17	chr15:44831000-44844400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr15:44831000-44844800	Weak transcription	Right Ventricle	heart
19	chr15:44831000-44856800	Weak transcription	Fetal Brain Male	brain
20	chr15:44831200-44833800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:44831200-44833800	Weak transcription	Liver	Liver
22	chr15:44831200-44834000	Weak transcription	Brain Substantia Nigra	brain
23	chr15:44831200-44834000	Weak transcription	HSMMtube	muscle
24	chr15:44831200-44835600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr15:44831200-44836000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr15:44831200-44836600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr15:44831200-44837000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr15:44831200-44838000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr15:44831400-44833800	Strong transcription	Fetal Muscle Leg	muscle
30	chr15:44831400-44833800	Strong transcription	Placenta	Placenta
31	chr15:44831400-44834000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr15:44831800-44834000	Strong transcription	Fetal Muscle Trunk	muscle
33	chr15:44832000-44834200	Strong transcription	Fetal Thymus	thymus
34	chr15:44832200-44834200	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr15:44832200-44837200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr15:44832400-44834400	Strong transcription	Primary B cells from peripheral blood	blood
37	chr15:44832400-44834400	Strong transcription	Fetal Intestine Large	intestine
38	chr15:44832400-44834600	Genic enhancers	Primary T cells fromperipheralblood	blood
39	chr15:44832400-44836400	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr15:44832400-44836400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
41	chr15:44832600-44833800	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr15:44832600-44833800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr15:44832600-44833800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr15:44832600-44833800	Genic enhancers	Sigmoid Colon	Sigmoid Colon
45	chr15:44832600-44833800	Genic enhancers	HUVEC	blood vessel
46	chr15:44832600-44833800	Genic enhancers	K562	blood
47	chr15:44832600-44834000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr15:44832600-44834000	Genic enhancers	NHEK	skin
49	chr15:44832600-44834200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr15:44832600-44834200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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