Variant report

Variant	rs3811340
Chromosome Location	chr14:21456342-21456343
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr14:21455686-21456356	MCF-7	breast:	n/a	chr14:21456040-21456049

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21455866..21457714-chr14:21560260..21562602,2	MCF-7	breast:
2	chr14:21450582..21454134-chr14:21456083..21458920,5	K562	blood:
3	chr14:21452633..21454134-chr14:21456113..21458171,2	K562	blood:
4	chr14:20921981..20924966-chr14:21455832..21458950,3	MCF-7	breast:
5	chr14:21454547..21456911-chr14:21472680..21474390,2	MCF-7	breast:
6	chr14:21345187..21348103-chr14:21455224..21457829,2	K562	blood:
7	chr14:21454398..21456867-chr14:21465877..21467429,2	MCF-7	breast:

No data

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

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2783789	1.00[JPT][hapmap]
rs3762150	0.82[JPT][hapmap]
rs74036537	0.81[ASN][1000 genomes]
rs8016111	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs871406	1.00[JPT][hapmap]

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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21451800-21456600	Weak transcription	Fetal Intestine Small	intestine
2	chr14:21453000-21457600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr14:21454200-21456600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr14:21454200-21457400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr14:21454200-21457800	Enhancers	Placenta Amnion	Placenta Amnion
6	chr14:21454400-21456400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:21454400-21456400	Enhancers	NHEK	skin
8	chr14:21454400-21456800	Enhancers	Hela-S3	cervix
9	chr14:21454400-21457200	Enhancers	NH-A	brain
10	chr14:21454400-21457400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:21454400-21457400	Enhancers	HMEC	breast
12	chr14:21454600-21457000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr14:21454600-21457200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:21454600-21457400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:21455000-21456400	Weak transcription	Placenta	Placenta
16	chr14:21455000-21457200	Weak transcription	Ovary	ovary
17	chr14:21455000-21457200	Weak transcription	HSMMtube	muscle
18	chr14:21455200-21456800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr14:21455400-21456400	Enhancers	A549	lung
20	chr14:21455400-21457000	Weak transcription	HUVEC	blood vessel
21	chr14:21455400-21457200	Weak transcription	HSMM	muscle
22	chr14:21455600-21457000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:21455600-21457000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:21455600-21457200	Weak transcription	Osteobl	bone
25	chr14:21455800-21456800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:21455800-21456800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:21455800-21456800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr14:21455800-21456800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:21455800-21457000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:21455800-21457000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr14:21455800-21457200	Enhancers	Duodenum Mucosa	Duodenum
32	chr14:21456000-21457000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr14:21456000-21457000	Weak transcription	NHDF-Ad	bronchial
34	chr14:21456000-21457200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:21456200-21456600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:21456200-21457200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:21456200-21457200	Weak transcription	K562	blood
38	chr14:21456200-21457200	Weak transcription	NHLF	lung
39	chr14:21456200-21457400	Enhancers	HepG2	liver

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