Variant report

Variant	rs59583123
Chromosome Location	chr15:72770207-72770208
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	POLR2A	chr15:72770065-72770329	GM12878	blood:	n/a	n/a
2	CTCF	chr15:72770140-72770290	HCPEpiC	choroid plexus:	n/a	n/a
3	POLR2A	chr15:72770161-72770424	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr15:72770180-72770330	HEK293	kidney:	n/a	n/a
5	CTCF	chr15:72770200-72770350	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:72769013..72771207-chr15:72803308..72805750,2	K562	blood:
2	chr15:72769981..72772398-chr15:72784193..72786269,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261423	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10152350	0.85[AFR][1000 genomes]
rs10468053	0.93[AFR][1000 genomes]
rs13379484	0.85[AFR][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	chr15:72768200-72772800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:72768200-72775400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:72768400-72770800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr15:72768400-72771200	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr15:72768400-72771400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr15:72768400-72771800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr15:72768400-72773800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr15:72768400-72775200	Weak transcription	Aorta	Aorta
9	chr15:72768400-72776000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr15:72768400-72785400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr15:72768400-72793400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr15:72768600-72770600	Enhancers	Fetal Heart	heart
13	chr15:72768800-72771400	Genic enhancers	Rectal Mucosa Donor 29	rectum
14	chr15:72768800-72771400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr15:72768800-72772000	Enhancers	Brain Angular Gyrus	brain
16	chr15:72769000-72770400	Genic enhancers	Brain Hippocampus Middle	brain
17	chr15:72769000-72770400	Genic enhancers	Fetal Intestine Small	intestine
18	chr15:72769000-72770600	Enhancers	Rectal Smooth Muscle	rectum
19	chr15:72769000-72771000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr15:72769000-72771000	Weak transcription	Spleen	Spleen
21	chr15:72769000-72771200	Genic enhancers	Primary B cells from cord blood	blood
22	chr15:72769000-72771200	Weak transcription	Lung	lung
23	chr15:72769000-72771400	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr15:72769000-72771600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr15:72769000-72775400	Weak transcription	Esophagus	oesophagus
26	chr15:72769000-72775400	Weak transcription	Pancreas	Pancrea
27	chr15:72769000-72775600	Weak transcription	Colonic Mucosa	Colon
28	chr15:72769200-72770400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr15:72769200-72770400	Weak transcription	Fetal Lung	lung
30	chr15:72769200-72770800	Weak transcription	Brain Anterior Caudate	brain
31	chr15:72769200-72771000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr15:72769200-72771000	Enhancers	Colon Smooth Muscle	Colon
33	chr15:72769200-72771200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr15:72769200-72771400	Genic enhancers	Primary T cells from cord blood	blood
35	chr15:72769200-72771400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr15:72769200-72771400	Genic enhancers	Dnd41	blood
37	chr15:72769200-72772000	Enhancers	Stomach Smooth Muscle	stomach
38	chr15:72769200-72774200	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr15:72769200-72777600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr15:72769200-72778600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr15:72769200-72779200	Weak transcription	NHLF	lung
42	chr15:72769200-72792000	Weak transcription	Fetal Kidney	kidney
43	chr15:72769400-72770400	Strong transcription	Placenta Amnion	Placenta Amnion
44	chr15:72769400-72771000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr15:72769400-72771000	Strong transcription	Fetal Intestine Large	intestine
46	chr15:72769400-72771400	Genic enhancers	Primary B cells from peripheral blood	blood
47	chr15:72769400-72772000	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr15:72769400-72773600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr15:72769600-72770400	Genic enhancers	Brain Cingulate Gyrus	brain
50	chr15:72769600-72770400	Enhancers	Duodenum Smooth Muscle	Duodenum

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