Variant report

Variant	rs2319625
Chromosome Location	chr14:21565146-21565147
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:21565020-21566202	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr14:21565045-21566036	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:21564991-21565967	HepG2	liver:	n/a	n/a
4	POLR2A	chr14:21564633-21565555	HepG2	liver:	n/a	n/a
5	POLR2A	chr14:21564975-21565155	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr14:21564836-21565459	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr14:21564506-21565505	HepG2	liver:	n/a	n/a
8	HEY1	chr14:21565094-21566018	HepG2	liver:	n/a	chr14:21565903-21565918

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21493465..21495146-chr14:21564517..21566869,2	K562	blood:
2	chr14:21520181..21522093-chr14:21562731..21565529,2	MCF-7	breast:
3	chr14:21493156..21496539-chr14:21563277..21566869,4	K562	blood:
4	chr14:21560808..21562943-chr14:21563849..21565971,2	K562	blood:
5	chr14:21559218..21562308-chr14:21563084..21566776,3	K562	blood:
6	chr14:21535130..21541812-chr14:21564802..21576767,22	MCF-7	breast:
7	chr14:21529965..21532217-chr14:21564746..21566795,2	MCF-7	breast:
8	chr14:21534879..21542621-chr14:21563384..21568050,9	MCF-7	breast:
9	chr14:21488163..21490230-chr14:21563775..21566660,2	K562	blood:
10	chr14:21563448..21565255-chr14:21566010..21568675,2	K562	blood:

No data

Variant related genes	Relation type
ZNF219	TF binding region
TMEM253	TF binding region
ENSG00000165795	Chromatin interaction
ENSG00000165804	Chromatin interaction
ENSG00000165801	Chromatin interaction
ENSG00000232070	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12889267	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1952512	0.93[ASN][1000 genomes]
rs2319626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2319627	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36100359	0.87[AMR][1000 genomes]
rs45486304	0.88[AMR][1000 genomes]
rs45515493	0.88[AMR][1000 genomes]
rs66995536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS 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 target site	92 gene(s)	inside rSNPs	diseases
5	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv826882	chr14:21511021-21604201	Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv530770	chr14:21526410-21852363	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
8	nsv528337	chr14:21540863-21565189	Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv525724	chr14:21540863-21574690	Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	esv3490839	chr14:21565112-21567760	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	esv3490842	chr14:21565112-21567760	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv3423964	chr14:21565137-21567985	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21545200-21565600	Weak transcription	Psoas Muscle	Psoas
2	chr14:21555800-21565600	Weak transcription	HSMMtube	muscle
3	chr14:21555800-21566200	Weak transcription	HSMM	muscle
4	chr14:21556200-21565400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr14:21556400-21565200	Weak transcription	Primary T cells from cord blood	blood
6	chr14:21556400-21565600	Weak transcription	Primary B cells from cord blood	blood
7	chr14:21556600-21565200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr14:21556600-21565400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr14:21556800-21565200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr14:21558400-21565400	Weak transcription	Stomach Mucosa	stomach
11	chr14:21558800-21566600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr14:21559800-21566600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:21560200-21565400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr14:21560200-21565400	Weak transcription	Aorta	Aorta
15	chr14:21560400-21565400	Enhancers	Fetal Heart	heart
16	chr14:21560600-21565600	Enhancers	Brain Hippocampus Middle	brain
17	chr14:21560800-21565800	Weak transcription	Small Intestine	intestine
18	chr14:21561000-21565800	Weak transcription	Ovary	ovary
19	chr14:21561200-21565200	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr14:21561200-21565200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr14:21561200-21565400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr14:21561200-21565400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr14:21561200-21565400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr14:21561200-21565400	Weak transcription	Colonic Mucosa	Colon
25	chr14:21561200-21565400	Weak transcription	Dnd41	blood
26	chr14:21561200-21565600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr14:21561200-21565600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr14:21561400-21565200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:21561600-21565200	Weak transcription	Lung	lung
30	chr14:21561600-21565400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr14:21561600-21566600	Weak transcription	Gastric	stomach
32	chr14:21561600-21566800	Weak transcription	Spleen	Spleen
33	chr14:21561800-21565200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr14:21561800-21565200	Enhancers	Fetal Thymus	thymus
35	chr14:21562000-21566000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:21562200-21566800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr14:21562400-21565200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr14:21562400-21565200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr14:21562400-21565200	Weak transcription	Pancreas	Pancrea
40	chr14:21562400-21565600	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr14:21562600-21565200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr14:21562600-21565200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr14:21562600-21565400	Weak transcription	NH-A	brain
44	chr14:21562600-21565600	Weak transcription	Brain Anterior Caudate	brain
45	chr14:21562600-21566800	Weak transcription	Liver	Liver
46	chr14:21562800-21565200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:21562800-21565200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr14:21562800-21565200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr14:21562800-21565200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr14:21562800-21565200	Weak transcription	Fetal Muscle Trunk	muscle

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