Variant report

Variant	rs527590528
Chromosome Location	chr14:81393139-81393140
allele	-/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81389769..81391378-chr14:81393076..81395517,2	K562	blood:
2	chr14:81388857..81391378-chr14:81393034..81394576,2	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81351400-81398400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:81358000-81396600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr14:81359400-81406000	Weak transcription	A549	lung
4	chr14:81359800-81396200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:81359800-81407200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:81360200-81393800	Weak transcription	HMEC	breast
7	chr14:81364400-81395800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr14:81364400-81395800	Weak transcription	GM12878-XiMat	blood
9	chr14:81369600-81397200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:81370400-81393600	Weak transcription	NHEK	skin
11	chr14:81375400-81407600	Weak transcription	Gastric	stomach
12	chr14:81379400-81407400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:81382600-81393200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:81382600-81406400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:81382800-81396000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr14:81382800-81396200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr14:81382800-81396800	Weak transcription	Primary B cells from cord blood	blood
18	chr14:81382800-81397200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr14:81382800-81397200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr14:81383400-81393600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:81387800-81407200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr14:81388200-81393600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:81390000-81405000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr14:81390000-81407200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr14:81391200-81393600	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr14:81392000-81394200	Genic enhancers	Dnd41	blood
27	chr14:81392200-81393200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:81392200-81393600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr14:81392200-81394200	Strong transcription	Thymus	Thymus
30	chr14:81392200-81394400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:81392200-81407200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr14:81392400-81393400	Enhancers	HSMM	muscle
33	chr14:81392400-81393600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr14:81392400-81393600	Enhancers	Right Atrium	heart
35	chr14:81392400-81393800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:81392400-81394000	Enhancers	HSMMtube	muscle
37	chr14:81392400-81406600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr14:81392600-81393600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr14:81392600-81394000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:81392600-81394000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:81392600-81394000	Enhancers	Placenta	Placenta
42	chr14:81392600-81394000	Strong transcription	Fetal Thymus	thymus
43	chr14:81392600-81394000	Enhancers	Left Ventricle	heart
44	chr14:81392600-81394000	Enhancers	Right Ventricle	heart
45	chr14:81392600-81394000	Enhancers	NH-A	brain
46	chr14:81392600-81394000	Enhancers	NHLF	lung
47	chr14:81392600-81394200	Enhancers	Fetal Muscle Trunk	muscle
48	chr14:81392600-81394200	Enhancers	Osteobl	bone
49	chr14:81392600-81394400	Enhancers	Fetal Heart	heart
50	chr14:81392600-81396400	Weak transcription	Spleen	Spleen

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