Variant report

Variant	rs542300982
Chromosome Location	chr14:55925241-55925242
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	GATA2	chr14:55924938-55926001	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55924018..55926617-chr14:55931310..55932885,2	K562	blood:

Variant related genes	Relation type
TBPL2	TF binding region

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	nsv901958	chr14:55822095-56045411	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv901963	chr14:55871452-56085130	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	nsv564874	chr14:55879685-56027815	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv1047054	chr14:55922287-56035579	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1051249	chr14:55923962-55961635	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55921400-55925400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr14:55921600-55925400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:55921600-55925600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr14:55921600-55925800	Weak transcription	HSMMtube	muscle
5	chr14:55921800-55925400	Weak transcription	NH-A	brain
6	chr14:55921800-55925400	Weak transcription	Osteobl	bone
7	chr14:55921800-55925600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr14:55921800-55925600	Weak transcription	Right Atrium	heart
9	chr14:55921800-55925800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr14:55921800-55925800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:55921800-55925800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr14:55921800-55930000	Weak transcription	NHLF	lung
13	chr14:55921800-55933800	Weak transcription	Gastric	stomach
14	chr14:55922000-55925800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr14:55922200-55929800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr14:55924000-55926200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr14:55924400-55925400	Enhancers	Hela-S3	cervix
18	chr14:55924600-55926200	Enhancers	NHEK	skin
19	chr14:55925000-55925600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:55925000-55926200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:55925000-55926200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr14:55925000-55926200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:55925000-55926200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:55925000-55926200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:55925000-55926200	Enhancers	GM12878-XiMat	blood
26	chr14:55925000-55926200	Enhancers	HMEC	breast
27	chr14:55925000-55926200	Enhancers	HSMM	muscle
28	chr14:55925000-55926200	Enhancers	NHDF-Ad	bronchial
29	chr14:55925000-55926400	Enhancers	HUVEC	blood vessel
30	chr14:55925200-55925800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr14:55925200-55926000	Enhancers	Stomach Mucosa	stomach
32	chr14:55925200-55926200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr14:55925200-55926200	Enhancers	A549	lung

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