Variant report

Variant	rs72733957
Chromosome Location	chr15:57540510-57540511
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	YY1	chr15:57540226-57540582	SK-N-SH_RA	brain:	n/a	chr15:57540233-57540243 chr15:57540232-57540248 chr15:57540233-57540255
2	GATA3	chr15:57540149-57540697	SK-N-SH	brain:	n/a	n/a
3	EP300	chr15:57540284-57540661	SK-N-SH_RA	brain:	n/a	n/a
4	EP300	chr15:57539746-57541734	SK-N-SH	brain:	n/a	chr15:57540774-57540788
5	EP300	chr15:57540286-57540667	SK-N-SH_RA	brain:	n/a	n/a
6	GATA3	chr15:57540116-57540902	SH-SY5Y	brain:	n/a	n/a
7	GATA2	chr15:57540239-57540719	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57539799..57542087-chr15:57542689..57545478,3	K562	blood:
2	chr15:57508073..57512585-chr15:57540435..57543693,4	K562	blood:

Variant related genes	Relation type
HNRNPA3P11	TF binding region
TCF12	TF binding region
ENSG00000140262	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs55893857	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61998063	1.00[AFR][1000 genomes]
rs72731943	1.00[AFR][1000 genomes]
rs72733918	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72733925	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs72733934	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs907477	1.00[AFR][1000 genomes]

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	nsv904251	chr15:57241970-57575916	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv457164	chr15:57495060-57559387	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv569578	chr15:57495060-57559387	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv833021	chr15:57495413-57751366	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57511800-57551600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:57511800-57565000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr15:57519600-57544600	Weak transcription	Psoas Muscle	Psoas
4	chr15:57520400-57576000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr15:57520800-57544600	Weak transcription	Colon Smooth Muscle	Colon
6	chr15:57522400-57565400	Weak transcription	Spleen	Spleen
7	chr15:57522800-57585000	Strong transcription	Fetal Thymus	thymus
8	chr15:57524400-57540600	Strong transcription	Primary T cells from cord blood	blood
9	chr15:57525600-57556800	Weak transcription	Pancreas	Pancrea
10	chr15:57526000-57542600	Weak transcription	Right Ventricle	heart
11	chr15:57526000-57550200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr15:57526600-57545400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr15:57526600-57554400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr15:57526600-57574200	Weak transcription	Hela-S3	cervix
15	chr15:57526800-57545400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr15:57526800-57554200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr15:57528200-57545200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr15:57528400-57545400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr15:57528400-57554800	Weak transcription	NHEK	skin
20	chr15:57529000-57545400	Weak transcription	HMEC	breast
21	chr15:57529400-57543400	Weak transcription	HUVEC	blood vessel
22	chr15:57530200-57543400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr15:57530800-57551200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:57531000-57542400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr15:57531400-57541200	Strong transcription	Fetal Muscle Trunk	muscle
26	chr15:57533600-57568800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr15:57535000-57541200	Strong transcription	NH-A	brain
28	chr15:57535200-57542600	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr15:57535600-57540600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr15:57535600-57541400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr15:57535600-57541800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr15:57536000-57540600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr15:57536000-57540600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr15:57536000-57540600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr15:57536000-57541200	Strong transcription	Liver	Liver
36	chr15:57536800-57574200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr15:57537000-57541200	Strong transcription	Primary hematopoietic stem cells	blood
38	chr15:57537000-57549200	Strong transcription	Dnd41	blood
39	chr15:57537200-57540600	Genic enhancers	Fetal Muscle Leg	muscle
40	chr15:57537400-57540600	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr15:57537600-57540600	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr15:57537600-57540600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr15:57537600-57540600	Strong transcription	Duodenum Mucosa	Duodenum
44	chr15:57537600-57540600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr15:57537600-57541000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr15:57537600-57542600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr15:57537800-57545400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr15:57537800-57551600	Weak transcription	Brain Germinal Matrix	brain
49	chr15:57537800-57551800	Weak transcription	Small Intestine	intestine
50	chr15:57537800-57555200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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