Variant report

Variant	rs181784613
Chromosome Location	chr14:45606552-45606553
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	HCFC1	chr14:45602844-45606700	Hela-S3	cervix:	n/a	n/a
2	SREBP1	chr14:45602656-45606838	GM12878	blood:	n/a	n/a
3	E2F4	chr14:45604491-45606738	MCF10A-Er-Src	breast:	n/a	chr14:45606613-45606622 chr14:45605056-45605065

No.	Distal block	Cell Line	Cell type
1	chr14:45602054..45606945-chr14:45719959..45724414,9	MCF-7	breast:
2	chr14:45428929..45435608-chr14:45601966..45608462,12	MCF-7	breast:
3	chr14:45380875..45383162-chr14:45604875..45606595,2	MCF-7	breast:
4	chr14:45601339..45606570-chr14:45722040..45724234,5	MCF-7	breast:
5	chr14:45601512..45605313-chr14:45605494..45608093,6	K562	blood:
6	chr14:45602011..45605313-chr14:45605492..45607351,3	K562	blood:

Variant related genes	Relation type
FKBP3	TF binding region
ENSG00000129534	Chromatin interaction
ENSG00000258949	Chromatin interaction
ENSG00000100442	Chromatin interaction
ENSG00000187790	Chromatin interaction
ENSG00000198718	Chromatin interaction
ENSG00000179454	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv933364	chr14:45467086-45705844	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv901842	chr14:45506857-45713358	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv901843	chr14:45506857-45833490	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic 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 miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv832785	chr14:45520670-45710741	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	esv1800510	chr14:45572528-45650813	Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv530814	chr14:45604432-46198418	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv901844	chr14:45606287-46063731	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45600600-45608600	Active TSS	GM12878-XiMat	blood
2	chr14:45602000-45606600	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr14:45602000-45607400	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr14:45602000-45607400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:45602000-45608200	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr14:45602200-45607200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr14:45602200-45607600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:45602200-45607600	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr14:45602200-45608000	Active TSS	K562	blood
10	chr14:45602400-45606600	Active TSS	Hela-S3	cervix
11	chr14:45602400-45606800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:45602600-45606600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:45602600-45606600	Active TSS	Muscle Satellite Cultured Cells	--
14	chr14:45602600-45606600	Active TSS	Fetal Kidney	kidney
15	chr14:45602600-45606600	Active TSS	HSMM	muscle
16	chr14:45602600-45606800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr14:45602600-45606800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:45602600-45606800	Active TSS	H9 Cell Line	embryonic stem cell
19	chr14:45602600-45607000	Active TSS	H1 Cell Line	embryonic stem cell
20	chr14:45602600-45607400	Active TSS	NHLF	lung
21	chr14:45602800-45606600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:45602800-45606600	Active TSS	Fetal Intestine Large	intestine
23	chr14:45602800-45606600	Active TSS	Fetal Muscle Leg	muscle
24	chr14:45602800-45607200	Active TSS	Fetal Thymus	thymus
25	chr14:45602800-45608000	Active TSS	NHDF-Ad	bronchial
26	chr14:45603000-45606600	Active TSS	HMEC	breast
27	chr14:45603400-45607400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:45605400-45606600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr14:45605400-45606600	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr14:45605400-45606600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr14:45605400-45606800	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr14:45605400-45607000	Flanking Active TSS	Brain Germinal Matrix	brain
33	chr14:45605400-45607000	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr14:45605400-45607400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr14:45605600-45606600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:45605600-45606600	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr14:45605600-45606600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr14:45605600-45606800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr14:45605600-45607000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr14:45605600-45607400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr14:45605600-45607400	Flanking Active TSS	HUVEC	blood vessel
42	chr14:45605800-45606600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr14:45605800-45606600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr14:45605800-45606800	Flanking Active TSS	Fetal Lung	lung
45	chr14:45605800-45607200	Flanking Active TSS	NH-A	brain
46	chr14:45605800-45607200	Flanking Active TSS	Osteobl	bone
47	chr14:45605800-45607400	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr14:45605800-45607400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:45605800-45613800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr14:45605800-45613800	Weak transcription	Gastric	stomach

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