Variant report

Variant	rs61977396
Chromosome Location	chr14:70453232-70453233
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1020811	1.00[ASN][1000 genomes]
rs11626232	1.00[ASN][1000 genomes]
rs1380434	1.00[ASN][1000 genomes]
rs17764895	1.00[ASN][1000 genomes]
rs61977392	1.00[AFR][1000 genomes]
rs61977393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61977394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61977395	1.00[ASN][1000 genomes]
rs61977398	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61977399	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61977400	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61977401	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61977402	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61977403	1.00[ASN][1000 genomes]
rs61977406	1.00[ASN][1000 genomes]
rs7159934	1.00[ASN][1000 genomes]
rs8022808	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70433200-70454000	Strong transcription	Liver	Liver
2	chr14:70439000-70458800	Weak transcription	Gastric	stomach
3	chr14:70439800-70477200	Weak transcription	Spleen	Spleen
4	chr14:70447000-70454400	Genic enhancers	Hela-S3	cervix
5	chr14:70447600-70454400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:70448200-70455000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:70448400-70453400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr14:70448400-70453600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr14:70448600-70453400	Weak transcription	Brain Hippocampus Middle	brain
10	chr14:70449600-70453800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr14:70450000-70458600	Weak transcription	Aorta	Aorta
12	chr14:70450600-70453400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:70450600-70453400	Weak transcription	Brain Substantia Nigra	brain
14	chr14:70450600-70453600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr14:70450600-70453800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr14:70450600-70453800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr14:70450600-70454000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr14:70450600-70454000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr14:70450600-70456400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:70450600-70457000	Weak transcription	Fetal Brain Male	brain
21	chr14:70450600-70464800	Weak transcription	Fetal Stomach	stomach
22	chr14:70450600-70477200	Weak transcription	Fetal Brain Female	brain
23	chr14:70451800-70459200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr14:70452000-70453600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:70452000-70454000	Strong transcription	HepG2	liver
26	chr14:70452400-70453400	Weak transcription	Brain Anterior Caudate	brain
27	chr14:70452400-70453600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:70452400-70458400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:70452800-70454600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr14:70452800-70460600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:70453000-70453400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr14:70453000-70464800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:70453200-70453600	Weak transcription	Brain Germinal Matrix	brain
34	chr14:70453200-70457800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:70453200-70458600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:70453200-70462600	Weak transcription	NHEK	skin

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