Variant report

Variant	rs1204980
Chromosome Location	chr14:72221508-72221509
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1204965	1.00[AMR][1000 genomes]
rs1204968	1.00[AMR][1000 genomes]
rs1204974	0.85[AFR][1000 genomes]
rs1204977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1204979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1212575	1.00[AMR][1000 genomes]
rs2096449	1.00[AMR][1000 genomes]
rs2802574	1.00[AMR][1000 genomes]
rs2802575	1.00[AMR][1000 genomes]

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	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1047559	chr14:72151736-72282151	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72219600-72221600	Enhancers	Ovary	ovary
2	chr14:72219600-72221600	Enhancers	HMEC	breast
3	chr14:72219600-72221800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr14:72219600-72221800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr14:72219800-72221600	Enhancers	Placenta	Placenta
6	chr14:72219800-72224600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:72220200-72221600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr14:72220200-72221800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:72220200-72221800	Enhancers	Stomach Smooth Muscle	stomach
10	chr14:72220400-72223000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr14:72220600-72231400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:72220800-72221600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:72220800-72221600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:72220800-72221800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:72220800-72221800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:72220800-72222200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr14:72221000-72221600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:72221000-72222400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr14:72221000-72222400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr14:72221000-72222400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr14:72221000-72223600	Weak transcription	Hela-S3	cervix
22	chr14:72221200-72221600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr14:72221200-72222000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:72221200-72222400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:72221200-72222400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:72221400-72221600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:72221400-72221800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:72221400-72222200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr14:72221400-72222400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr14:72221400-72224200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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