Variant report

Variant	rs148490120
Chromosome Location	chr15:73343724-73343725
allele	A/C
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	REST	chr15:73343338-73346187	H1-neurons	neurons:	n/a	chr15:73344978-73344996 chr15:73343999-73344012 chr15:73343713-73343723 chr15:73345747-73345760
2	NRF1	chr15:73343440-73345937	SK-N-SH	brain:	n/a	chr15:73343975-73343984 chr15:73344378-73344387 chr15:73344016-73344025 chr15:73344809-73344818
3	SIN3A	chr15:73343608-73345927	H1-hESC	embryonic stem cell:	n/a	chr15:73345747-73345760 chr15:73343999-73344012 chr15:73345342-73345355 chr15:73344977-73344990 chr15:73344056-73344067
4	POLR2A	chr15:73343627-73345984	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr15:73343714-73344061	HepG2	liver:	n/a	n/a
6	HA-E2F1	chr15:73343635-73344636	MCF-7	breast:	n/a	chr15:73344368-73344377 chr15:73344374-73344383 chr15:73343975-73343984 chr15:73344405-73344417
7	POLR2A	chr15:73343527-73344578	MCF10A-Er-Src	breast:	n/a	n/a
8	MXI1	chr15:73342653-73346307	SK-N-SH	brain:	n/a	n/a
9	REST	chr15:73343641-73344468	A549	lung:	n/a	chr15:73343999-73344012 chr15:73343713-73343723
10	CTCF	chr15:73343720-73343870	GM12873	blood:	n/a	n/a
11	POLR2A	chr15:73343705-73343903	H1-hESC	embryonic stem cell:	n/a	n/a
12	SIN3AK20	chr15:73343543-73346163	MCF-7	breast:	n/a	n/a
13	SP1	chr15:73343614-73344739	A549	lung:	n/a	chr15:73344673-73344687 chr15:73344364-73344378 chr15:73344674-73344683 chr15:73344368-73344377 chr15:73344672-73344684 chr15:73344367-73344379 chr15:73344508-73344517 chr15:73344367-73344378 chr15:73344504-73344518 chr15:73344367-73344379 chr15:73344507-73344519 chr15:73344358-73344372
14	MAX	chr15:73343705-73345139	HepG2	liver:	n/a	chr15:73344252-73344261 chr15:73344369-73344379 chr15:73344072-73344082
15	TCF12	chr15:73343490-73344721	A549	lung:	n/a	chr15:73344193-73344200 chr15:73343527-73343534
16	POLR2A	chr15:73343668-73346021	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr15:73343690-73345894	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr15:73343633-73345959	H1-neurons	neurons:	n/a	n/a
19	MAZ	chr15:73343616-73346019	IMR90	lung:	n/a	chr15:73344252-73344261 chr15:73344369-73344379 chr15:73344072-73344082
20	MAX	chr15:73343627-73345871	A549	lung:	n/a	chr15:73344252-73344261 chr15:73344369-73344379 chr15:73344072-73344082

No.	Distal block	Cell Line	Cell type
1	chr15:73075212..73078087-chr15:73342810..73345457,4	MCF-7	breast:
2	chr15:72765203..72766825-chr15:73342381..73345092,2	MCF-7	breast:
3	chr15:73074691..73078350-chr15:73341676..73346479,5	MCF-7	breast:

Variant related genes	Relation type
NEO1	TF binding region
ENSG00000260898	Chromatin interaction
ENSG00000166233	Chromatin interaction
ENSG00000159322	Chromatin interaction
ENSG00000261423	Chromatin interaction

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

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	esv3352103	chr15:73191535-73454001	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv482421	chr15:73279141-73426897	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv904338	chr15:73313691-73483718	Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv3438792	chr15:73343424-73346772	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	esv3410525	chr15:73343674-73346347	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73343000-73346000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr15:73343200-73343800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:73343200-73343800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr15:73343200-73343800	Flanking Active TSS	Fetal Lung	lung
5	chr15:73343200-73343800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
6	chr15:73343200-73344000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr15:73343200-73345800	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr15:73343200-73346000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr15:73343200-73346000	Active TSS	Brain Anterior Caudate	brain
10	chr15:73343200-73346200	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr15:73343200-73346400	Active TSS	H1 Cell Line	embryonic stem cell
12	chr15:73343200-73346400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr15:73343200-73346400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr15:73343200-73346600	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr15:73343200-73347600	Active TSS	Colonic Mucosa	Colon
16	chr15:73343400-73343800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr15:73343400-73343800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr15:73343400-73343800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr15:73343400-73343800	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr15:73343400-73343800	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr15:73343400-73343800	Flanking Active TSS	Fetal Brain Male	brain
22	chr15:73343400-73343800	Flanking Active TSS	Fetal Kidney	kidney
23	chr15:73343400-73343800	Active TSS	Right Atrium	heart
24	chr15:73343400-73343800	Flanking Active TSS	A549	lung
25	chr15:73343400-73343800	Flanking Bivalent TSS/Enh	NHEK	skin
26	chr15:73343400-73344000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr15:73343400-73344000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr15:73343400-73344000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr15:73343400-73344000	Flanking Active TSS	Liver	Liver
30	chr15:73343400-73344200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr15:73343400-73345000	Active TSS	Brain Germinal Matrix	brain
32	chr15:73343400-73345400	Active TSS	Duodenum Mucosa	Duodenum
33	chr15:73343400-73345400	Active TSS	Hela-S3	cervix
34	chr15:73343400-73345800	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr15:73343400-73346200	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr15:73343400-73346200	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr15:73343400-73346200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr15:73343400-73346200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr15:73343400-73346200	Active TSS	Brain Angular Gyrus	brain
40	chr15:73343400-73346200	Active TSS	Psoas Muscle	Psoas
41	chr15:73343400-73346200	Active TSS	Right Ventricle	heart
42	chr15:73343400-73346400	Active TSS	H9 Cell Line	embryonic stem cell
43	chr15:73343400-73346400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr15:73343400-73346600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr15:73343400-73346800	Active TSS	Aorta	Aorta
46	chr15:73343600-73343800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr15:73343600-73343800	Enhancers	Primary B cells from peripheral blood	blood
48	chr15:73343600-73343800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr15:73343600-73343800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr15:73343600-73343800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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