Variant report

Variant	rs61977383
Chromosome Location	chr14:70439022-70439023
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70432306..70435336-chr14:70437963..70441360,3	MCF-7	breast:
2	chr14:70438502..70441273-chr14:70479429..70481883,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10142893	1.00[ASN][1000 genomes]
rs12184944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12185053	1.00[ASN][1000 genomes]
rs28609860	1.00[ASN][1000 genomes]
rs59949074	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61977384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61977387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61977388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61977389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61977390	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61980655	0.84[EUR][1000 genomes]
rs61980656	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61980657	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61980658	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61981598	1.00[ASN][1000 genomes]
rs61981599	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61981600	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61981601	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61981602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61981760	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61981761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61981762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61981763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61981764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61981765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61981766	1.00[ASN][1000 genomes]
rs61981767	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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70415800-70444600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr14:70418800-70448600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:70429800-70450000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:70430400-70447000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:70431600-70439200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr14:70431800-70439400	Weak transcription	HMEC	breast
7	chr14:70433200-70454000	Strong transcription	Liver	Liver
8	chr14:70433600-70445800	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr14:70435400-70440200	Weak transcription	Brain Germinal Matrix	brain
10	chr14:70435400-70443800	Weak transcription	Fetal Stomach	stomach
11	chr14:70435400-70447000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:70435800-70439200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:70436200-70439600	Weak transcription	Spleen	Spleen
14	chr14:70436400-70439400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:70436400-70440600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:70436800-70443600	Weak transcription	Fetal Brain Male	brain
17	chr14:70437600-70447000	Strong transcription	Hela-S3	cervix
18	chr14:70438000-70439400	Weak transcription	Brain Angular Gyrus	brain
19	chr14:70438000-70439800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr14:70438200-70439600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:70438200-70440200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr14:70438400-70439200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:70438400-70439200	Strong transcription	HepG2	liver
24	chr14:70438400-70440000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr14:70438600-70441200	Enhancers	Brain Substantia Nigra	brain
26	chr14:70438800-70439200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:70438800-70439800	Enhancers	Brain Cingulate Gyrus	brain
28	chr14:70439000-70439400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:70439000-70439600	Strong transcription	Fetal Brain Female	brain
30	chr14:70439000-70439600	Enhancers	Fetal Intestine Small	intestine
31	chr14:70439000-70439800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr14:70439000-70439800	Enhancers	Right Atrium	heart
33	chr14:70439000-70440000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:70439000-70440000	Enhancers	Brain Anterior Caudate	brain
35	chr14:70439000-70440000	Enhancers	Brain Hippocampus Middle	brain
36	chr14:70439000-70440200	Enhancers	Fetal Intestine Large	intestine
37	chr14:70439000-70458800	Weak transcription	Gastric	stomach

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