Variant report

Variant	rs559384117
Chromosome Location	chr14:81876642-81876643
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81875040..81877398-chr14:81879695..81881536,2	K562	blood:
2	chr14:81876407..81878625-chr14:81895373..81897999,2	K562	blood:
3	chr14:81867994..81870092-chr14:81876125..81877918,2	K562	blood:
4	chr14:81684469..81687360-chr14:81875537..81877645,3	K562	blood:
5	chr14:81871493..81873378-chr14:81876007..81877708,2	K562	blood:

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3358936	chr14:81786719-81928269	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv902119	chr14:81810945-81884857	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv510645	chr14:81874624-81907004	Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
6	esv3524007	chr14:81876199-81882597	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81836400-81885800	Weak transcription	Gastric	stomach
2	chr14:81852800-81899800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:81861400-81889400	Weak transcription	Fetal Kidney	kidney
4	chr14:81862800-81881400	Weak transcription	Fetal Intestine Small	intestine
5	chr14:81864400-81893600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr14:81865000-81884600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:81865000-81885600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr14:81865000-81889400	Weak transcription	Ovary	ovary
9	chr14:81865000-81892400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:81867600-81892000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr14:81867800-81889800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr14:81868400-81884000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:81868800-81881600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr14:81868800-81893600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:81869200-81879200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:81869400-81880600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:81872200-81876800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr14:81873400-81879200	Weak transcription	Placenta	Placenta
19	chr14:81873400-81880400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:81873600-81878400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:81873600-81878400	Weak transcription	HSMMtube	muscle
22	chr14:81873600-81886000	Weak transcription	Fetal Muscle Leg	muscle
23	chr14:81874000-81876800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:81874000-81880400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:81874000-81880800	Weak transcription	Psoas Muscle	Psoas
26	chr14:81874000-81882800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr14:81874400-81882600	Weak transcription	Adipose Nuclei	Adipose
28	chr14:81874800-81892600	Weak transcription	Hela-S3	cervix
29	chr14:81875200-81876800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:81876400-81878600	Weak transcription	K562	blood

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