Variant report

Variant	rs554320514
Chromosome Location	chr15:41628674-41628675
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	SPI1	chr15:41628501-41628763	GM12891	blood:	n/a	n/a
2	ZNF384	chr15:41628614-41629117	GM12878	blood:	n/a	n/a
3	BHLHE40	chr15:41628614-41629153	GM12878	blood:	n/a	n/a
4	ZNF384	chr15:41628635-41629285	K562	blood:	n/a	n/a
5	WRNIP1	chr15:41628502-41629014	GM12878	blood:	n/a	n/a
6	SPI1	chr15:41628495-41628845	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:41623109..41624716-chr15:41626647..41628687,2	K562	blood:
2	chr15:41506769..41509087-chr15:41627220..41629152,2	K562	blood:

Variant related genes	Relation type
OIP5	TF binding region
ENSG00000104147	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044438	chr15:41560160-41745480	Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv1038923	chr15:41585028-41754890	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv1045142	chr15:41585044-41738314	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv1039283	chr15:41620499-41745480	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
5	esv3523301	chr15:41626760-41629083	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv3523302	chr15:41626760-41629083	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv3420040	chr15:41627110-41628708	Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41625400-41670200	Weak transcription	Gastric	stomach
2	chr15:41625600-41659200	Weak transcription	Lung	lung
3	chr15:41625800-41665800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr15:41625800-41694200	Weak transcription	Small Intestine	intestine
5	chr15:41626000-41642000	Weak transcription	Ovary	ovary
6	chr15:41626000-41665200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr15:41626200-41629800	Weak transcription	Fetal Intestine Large	intestine
8	chr15:41626200-41632000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr15:41626200-41633600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:41626200-41640600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr15:41626200-41643400	Weak transcription	Spleen	Spleen
12	chr15:41626200-41658200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr15:41626200-41678200	Weak transcription	Liver	Liver
14	chr15:41626200-41680200	Weak transcription	Fetal Brain Male	brain
15	chr15:41626400-41630200	Weak transcription	Fetal Heart	heart
16	chr15:41626400-41677800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr15:41626400-41678400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:41626600-41643400	Weak transcription	Primary B cells from cord blood	blood
19	chr15:41626800-41629200	Weak transcription	Fetal Muscle Leg	muscle
20	chr15:41626800-41629400	Weak transcription	Fetal Stomach	stomach
21	chr15:41626800-41630200	Weak transcription	Fetal Intestine Small	intestine
22	chr15:41626800-41632200	Weak transcription	Fetal Kidney	kidney
23	chr15:41626800-41641200	Weak transcription	Placenta	Placenta
24	chr15:41626800-41642800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr15:41626800-41643200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr15:41626800-41643400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr15:41626800-41686400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr15:41627000-41628800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr15:41627000-41629000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr15:41627000-41629400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr15:41627000-41629400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr15:41627000-41629600	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr15:41627000-41629600	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr15:41627000-41629600	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr15:41627000-41629600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr15:41627000-41629600	Weak transcription	HMEC	breast
37	chr15:41627000-41629600	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr15:41627000-41629800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr15:41627000-41630400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr15:41627000-41630600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr15:41627000-41630800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr15:41627000-41632200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr15:41627000-41632400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr15:41627000-41632600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr15:41627000-41632600	Weak transcription	NH-A	brain
46	chr15:41627000-41633000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr15:41627000-41633000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr15:41627000-41633000	Weak transcription	Fetal Brain Female	brain
49	chr15:41627000-41633400	Weak transcription	NHLF	lung
50	chr15:41627000-41633800	Weak transcription	Fetal Lung	lung

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