Variant report

Variant	rs147876998
Chromosome Location	chr15:52404163-52404164
allele	C/T
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	E2F6	chr15:52404006-52405001	H1-hESC	embryonic stem cell:	n/a	chr15:52404011-52404018 chr15:52404974-52404983
2	POLR2A	chr15:52403762-52405802	NB4	blood:	n/a	n/a
3	POLR2A	chr15:52403715-52405006	GM19193	blood:	n/a	n/a
4	EBF1	chr15:52404136-52404655	GM12878	blood:	n/a	n/a
5	YY1	chr15:52403922-52405027	GM12878	blood:	n/a	chr15:52404972-52404986 chr15:52404061-52404071
6	POLR2A	chr15:52403564-52404976	GM12891	blood:	n/a	n/a
7	MYC	chr15:52403861-52404544	NB4	blood:	n/a	n/a
8	POLR2A	chr15:52404074-52404336	GM12891	blood:	n/a	n/a
9	POLR2A	chr15:52404092-52404988	GM12878	blood:	n/a	n/a
10	MAX	chr15:52404100-52404834	MCF-7	breast:	n/a	n/a
11	MTA3	chr15:52403416-52404901	GM12878	blood:	n/a	n/a
12	E2F4	chr15:52404148-52404298	GM12878	blood:	n/a	n/a
13	ELF1	chr15:52403663-52404665	GM12878	blood:	n/a	n/a
14	YY1	chr15:52403803-52404283	GM12891	blood:	n/a	chr15:52404061-52404071
15	MAX	chr15:52404148-52404873	H1-hESC	embryonic stem cell:	n/a	n/a
16	PML	chr15:52403631-52404813	GM12878	blood:	n/a	n/a
17	YY1	chr15:52403896-52404994	GM12878	blood:	n/a	chr15:52404972-52404986 chr15:52404061-52404071
18	POLR2A	chr15:52403681-52404911	GM12891	blood:	n/a	n/a
19	POLR2A	chr15:52403797-52404959	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:52263208..52265625-chr15:52404085..52407650,4	MCF-7	breast:
2	chr15:52393212..52395889-chr15:52402587..52404691,2	K562	blood:
3	chr15:52403961..52406655-chr15:52470750..52472609,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259327	TF binding region
ENSG00000166477	Chromatin interaction
ENSG00000259577	Chromatin interaction
ENSG00000069966	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv471244	chr15:52305463-52511465	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv984198	chr15:52319726-52481137	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer 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	23 gene(s)	inside rSNPs	diseases
3	nsv1054372	chr15:52369078-52579464	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv542387	chr15:52369078-52579464	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv833005	chr15:52389869-52541330	Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	esv3412125	chr15:52404008-52404454	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52398600-52404200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr15:52401000-52404200	Enhancers	Primary B cells from peripheral blood	blood
3	chr15:52402200-52404200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr15:52402200-52404200	Weak transcription	Pancreas	Pancrea
5	chr15:52402200-52411400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr15:52402400-52405600	Weak transcription	HepG2	liver
7	chr15:52403600-52404200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr15:52403600-52404200	Weak transcription	HMEC	breast
9	chr15:52403600-52404800	Flanking Active TSS	GM12878-XiMat	blood
10	chr15:52403800-52404200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr15:52403800-52404200	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr15:52403800-52404200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:52403800-52404200	Bivalent Enhancer	Fetal Brain Female	brain
14	chr15:52403800-52404400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr15:52403800-52404400	Bivalent Enhancer	Fetal Intestine Small	intestine
16	chr15:52404000-52404200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr15:52404000-52404200	Bivalent Enhancer	Primary B cells from cord blood	blood
18	chr15:52404000-52404200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
19	chr15:52404000-52404200	Enhancers	Primary hematopoietic stem cells	blood
20	chr15:52404000-52404200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
21	chr15:52404000-52404200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
22	chr15:52404000-52404200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
23	chr15:52404000-52404200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
24	chr15:52404000-52404200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr15:52404000-52404200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr15:52404000-52404200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr15:52404000-52404200	Bivalent Enhancer	Adipose Nuclei	Adipose
28	chr15:52404000-52404200	Bivalent Enhancer	Brain Germinal Matrix	brain
29	chr15:52404000-52404200	Active TSS	Duodenum Mucosa	Duodenum
30	chr15:52404000-52404200	Bivalent Enhancer	Fetal Intestine Large	intestine
31	chr15:52404000-52404200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr15:52404000-52404200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
33	chr15:52404000-52404200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
34	chr15:52404000-52404200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
35	chr15:52404000-52404200	Bivalent Enhancer	Osteobl	bone
36	chr15:52404000-52404400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
37	chr15:52404000-52404400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
38	chr15:52404000-52404400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr15:52404000-52404400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
40	chr15:52404000-52404400	Enhancers	Liver	Liver
41	chr15:52404000-52404400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr15:52404000-52404400	Bivalent Enhancer	Fetal Muscle Leg	muscle
43	chr15:52404000-52404400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
44	chr15:52404000-52404400	Enhancers	Right Ventricle	heart
45	chr15:52404000-52404400	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr15:52404000-52404600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr15:52404000-52404600	Flanking Active TSS	Colonic Mucosa	Colon
48	chr15:52404000-52405000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
49	chr15:52404000-52405000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
50	chr15:52404000-52405000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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