Variant report

Variant	rs74022835
Chromosome Location	chr15:72769370-72769371
allele	A/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	chr15:72769331-72769555	MCF10A-Er-Src	breast:	n/a	n/a
2	MAFK	chr15:72769154-72769447	K562	blood:	n/a	n/a
3	MAFK	chr15:72769284-72769552	HepG2	liver:	n/a	n/a
4	MAFF	chr15:72769003-72769517	HepG2	liver:	n/a	chr15:72769393-72769411

No.	Distal block	Cell Line	Cell type
1	chr15:72666558..72670735-chr15:72765041..72769475,12	MCF-7	breast:
2	chr15:72769013..72771207-chr15:72803308..72805750,2	K562	blood:
3	chr15:72521977..72524663-chr15:72766747..72769820,3	MCF-7	breast:
4	chr15:72651340..72653865-chr15:72768318..72770025,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261423	TF binding region
ENSG00000260339	Chromatin interaction
ENSG00000213614	Chromatin interaction
ENSG00000067225	Chromatin interaction
ENSG00000260729	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12324257	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13329347	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2577576	1.00[AMR][1000 genomes]
rs28396210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28418777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28451211	1.00[AMR][1000 genomes]
rs28451625	1.00[AMR][1000 genomes]
rs28463280	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28483407	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28575504	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28575961	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28635032	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28667912	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28687667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28703826	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024328	1.00[AMR][1000 genomes]
rs8192372	0.90[AFR][1000 genomes]
rs9920990	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9920991	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
3	nsv534037	chr15:72659210-72964029	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv469704	chr15:72669374-72853927	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
5	nsv482685	chr15:72669374-72853927	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
6	nsv1050558	chr15:72739150-72860350	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
7	nsv542427	chr15:72739150-72860350	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 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	chr15:72766000-72769400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr15:72766000-72769600	Active TSS	Ovary	ovary
3	chr15:72767600-72769600	Active TSS	Right Atrium	heart
4	chr15:72767600-72769800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr15:72767800-72769600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr15:72768000-72769400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr15:72768000-72769400	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr15:72768000-72770200	Weak transcription	Gastric	stomach
9	chr15:72768200-72769400	Enhancers	Primary B cells from peripheral blood	blood
10	chr15:72768200-72772800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:72768200-72775400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr15:72768400-72769400	Active TSS	Fetal Brain Female	brain
13	chr15:72768400-72769400	Active TSS	HMEC	breast
14	chr15:72768400-72769600	Enhancers	Stomach Mucosa	stomach
15	chr15:72768400-72769800	Enhancers	Brain Substantia Nigra	brain
16	chr15:72768400-72770000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr15:72768400-72770800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr15:72768400-72771200	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr15:72768400-72771400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr15:72768400-72771800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr15:72768400-72773800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr15:72768400-72775200	Weak transcription	Aorta	Aorta
23	chr15:72768400-72776000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr15:72768400-72785400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr15:72768400-72793400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr15:72768600-72769600	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr15:72768600-72769800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr15:72768600-72769800	Enhancers	Fetal Brain Male	brain
29	chr15:72768600-72770200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr15:72768600-72770600	Enhancers	Fetal Heart	heart
31	chr15:72768800-72769600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr15:72768800-72769600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr15:72768800-72769600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr15:72768800-72769800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr15:72768800-72769800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr15:72768800-72769800	Enhancers	Liver	Liver
37	chr15:72768800-72769800	Genic enhancers	NHEK	skin
38	chr15:72768800-72771400	Genic enhancers	Rectal Mucosa Donor 29	rectum
39	chr15:72768800-72771400	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr15:72768800-72772000	Enhancers	Brain Angular Gyrus	brain
41	chr15:72769000-72769400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
42	chr15:72769000-72769400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr15:72769000-72769400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr15:72769000-72769400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr15:72769000-72769400	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
46	chr15:72769000-72769400	Genic enhancers	Placenta Amnion	Placenta Amnion
47	chr15:72769000-72769600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr15:72769000-72769600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
49	chr15:72769000-72769600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
50	chr15:72769000-72769600	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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