Variant report

Variant	rs2783783
Chromosome Location	chr14:21457042-21457043
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:21456785-21458854	K562	blood:	n/a	n/a
2	POLR2A	chr14:21456851-21458773	Hela-S3	cervix:	n/a	n/a
3	SREBP1	chr14:21456834-21458587	GM12878	blood:	n/a	chr14:21456928-21456939
4	POLR2A	chr14:21456998-21457548	ECC-1	luminal epithelium:	n/a	n/a
5	SPI1	chr14:21456814-21457281	HL-60	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:21455866..21457714-chr14:21560260..21562602,2	MCF-7	breast:
2	chr14:21456978..21457681-chr17:40729232..40730033,2	Hela-S3	cervix:
3	chr14:21450582..21454134-chr14:21456083..21458920,5	K562	blood:
4	chr14:21456741..21458593-chr14:21486846..21489744,2	MCF-7	breast:
5	chr14:21452633..21454134-chr14:21456113..21458171,2	K562	blood:
6	chr14:21456868..21460721-chr14:21463900..21468435,6	MCF-7	breast:
7	chr14:20921981..20924966-chr14:21455832..21458950,3	MCF-7	breast:
8	chr14:21345187..21348103-chr14:21455224..21457829,2	K562	blood:

No data

Variant related genes	Relation type
METTL17	TF binding region
ENSG00000258599	TF binding region
ENSG00000165792	Chromatin interaction
ENSG00000258599	Chromatin interaction
ENSG00000165795	Chromatin interaction
ENSG00000258471	Chromatin interaction
ENSG00000165794	Chromatin interaction
ENSG00000131470	Chromatin interaction
ENSG00000165804	Chromatin interaction
ENSG00000100823	Chromatin interaction
ENSG00000092094	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2234638	1.00[EUR][1000 genomes]
rs2245824	1.00[EUR][1000 genomes]
rs2741728	1.00[EUR][1000 genomes]
rs2741733	1.00[EUR][1000 genomes]
rs2771328	1.00[EUR][1000 genomes]
rs2771330	1.00[EUR][1000 genomes]
rs2771331	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2771333	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2783780	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2783790	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4982366	1.00[EUR][1000 genomes]
rs73571930	1.00[EUR][1000 genomes]
rs73583894	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758349	chr14:21216108-21471614	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759972	chr14:21216108-21471614	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	nsv427936	chr14:21216108-21531783	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
4	nsv428293	chr14:21216108-21531783	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
5	nsv832740	chr14:21332060-21545052	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	45 gene(s)	inside rSNPs	diseases
6	nsv470622	chr14:21338824-21469151	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv563847	chr14:21338824-21469151	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	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
9	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
10	nsv901475	chr14:21426282-21465489	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21453000-21457600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr14:21454200-21457400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr14:21454200-21457800	Enhancers	Placenta Amnion	Placenta Amnion
4	chr14:21454400-21457200	Enhancers	NH-A	brain
5	chr14:21454400-21457400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:21454400-21457400	Enhancers	HMEC	breast
7	chr14:21454600-21457200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr14:21454600-21457400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:21455000-21457200	Weak transcription	Ovary	ovary
10	chr14:21455000-21457200	Weak transcription	HSMMtube	muscle
11	chr14:21455400-21457200	Weak transcription	HSMM	muscle
12	chr14:21455600-21457200	Weak transcription	Osteobl	bone
13	chr14:21455800-21457200	Enhancers	Duodenum Mucosa	Duodenum
14	chr14:21456000-21457200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:21456200-21457200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:21456200-21457200	Weak transcription	K562	blood
17	chr14:21456200-21457200	Weak transcription	NHLF	lung
18	chr14:21456200-21457400	Enhancers	HepG2	liver
19	chr14:21456600-21457200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:21456600-21457200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr14:21456600-21457200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:21456600-21457400	Enhancers	Fetal Intestine Small	intestine
23	chr14:21456800-21457200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr14:21456800-21457200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:21456800-21457200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr14:21456800-21457200	Enhancers	Pancreas	Pancrea
27	chr14:21456800-21457200	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr14:21456800-21457200	Active TSS	Stomach Smooth Muscle	stomach
29	chr14:21456800-21457200	Enhancers	A549	lung
30	chr14:21456800-21457200	Enhancers	NHEK	skin
31	chr14:21456800-21457400	Enhancers	H1 Cell Line	embryonic stem cell
32	chr14:21456800-21457400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:21456800-21457400	Enhancers	Primary B cells from cord blood	blood
34	chr14:21456800-21457400	Enhancers	Primary hematopoietic stem cells	blood
35	chr14:21456800-21457400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:21456800-21457400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr14:21456800-21457400	Enhancers	Fetal Muscle Trunk	muscle
38	chr14:21456800-21457600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr14:21456800-21457600	Flanking Active TSS	Hela-S3	cervix
40	chr14:21456800-21457600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr14:21456800-21457800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr14:21456800-21457800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr14:21456800-21457800	Enhancers	Left Ventricle	heart
44	chr14:21456800-21457800	Enhancers	Lung	lung
45	chr14:21456800-21457800	Enhancers	Spleen	Spleen
46	chr14:21457000-21457200	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr14:21457000-21457200	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr14:21457000-21457200	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr14:21457000-21457200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr14:21457000-21457200	Enhancers	Primary T killer memory cells from peripheral blood	blood

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