Variant report

Variant	rs72623992
Chromosome Location	chr15:52880650-52880651
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	chr15:52880637-52880761	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:52878282..52881403-chr15:52901150..52903681,3	K562	blood:
2	chr15:52859069..52862529-chr15:52880435..52883988,3	MCF-7	breast:

Variant related genes	Relation type
FAM214A	TF binding region
ENSG00000128989	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17651844	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17651850	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72623990	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72623991	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72623993	0.82[ASN][1000 genomes]
rs72623994	0.84[ASN][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	nsv471245	chr15:52607262-53187165	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1041421	chr15:52661342-53148286	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	esv1832020	chr15:52702400-52901914	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1047775	chr15:52822050-52912228	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv833006	chr15:52825954-53040462	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52861200-52925200	Weak transcription	Stomach Mucosa	stomach
2	chr15:52861400-52883600	Weak transcription	Lung	lung
3	chr15:52861600-52883800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr15:52861600-52884000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr15:52861600-52885000	Weak transcription	Spleen	Spleen
6	chr15:52861600-52901600	Weak transcription	Esophagus	oesophagus
7	chr15:52861800-52882600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr15:52861800-52882600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr15:52861800-52883800	Weak transcription	Colon Smooth Muscle	Colon
10	chr15:52861800-52884400	Weak transcription	Thymus	Thymus
11	chr15:52861800-52890600	Weak transcription	Fetal Kidney	kidney
12	chr15:52861800-52896800	Weak transcription	Hela-S3	cervix
13	chr15:52861800-52901600	Weak transcription	A549	lung
14	chr15:52861800-52908400	Weak transcription	Gastric	stomach
15	chr15:52861800-52934800	Weak transcription	Right Ventricle	heart
16	chr15:52862000-52901600	Weak transcription	Brain Angular Gyrus	brain
17	chr15:52866400-52889800	Weak transcription	Pancreas	Pancrea
18	chr15:52867400-52882400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr15:52869200-52890200	Weak transcription	Aorta	Aorta
20	chr15:52869400-52895000	Weak transcription	Fetal Heart	heart
21	chr15:52869400-52945400	Weak transcription	Small Intestine	intestine
22	chr15:52869800-52900000	Strong transcription	Primary B cells from cord blood	blood
23	chr15:52870200-52883600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr15:52870200-52905000	Weak transcription	HMEC	breast
25	chr15:52870600-52883800	Weak transcription	NHLF	lung
26	chr15:52871200-52890400	Weak transcription	GM12878-XiMat	blood
27	chr15:52871200-52901600	Weak transcription	Dnd41	blood
28	chr15:52871800-52902200	Weak transcription	Fetal Brain Male	brain
29	chr15:52871800-52967600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr15:52872000-52900200	Strong transcription	Primary B cells from peripheral blood	blood
31	chr15:52872200-52883600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr15:52872200-52883800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr15:52872200-52933800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr15:52872400-52881600	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr15:52872400-52884200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr15:52872400-52897800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr15:52872600-52884000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr15:52872600-52890200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr15:52872600-52891000	Weak transcription	HUVEC	blood vessel
40	chr15:52872600-52920800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr15:52872800-52883200	Weak transcription	NH-A	brain
42	chr15:52873400-52928000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr15:52873600-52885000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr15:52873600-52898800	Strong transcription	Adipose Nuclei	Adipose
45	chr15:52873800-52909600	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr15:52874000-52883800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr15:52874200-52900000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr15:52874200-52917000	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr15:52874800-52893200	Strong transcription	Duodenum Mucosa	Duodenum
50	chr15:52874800-52901200	Weak transcription	Placenta Amnion	Placenta Amnion

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