Variant report

Variant	rs61977392
Chromosome Location	chr14:70449448-70449449
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs58712157	1.00[ASN][1000 genomes]
rs61977387	1.00[ASN][1000 genomes]
rs61977388	1.00[ASN][1000 genomes]
rs61977389	1.00[ASN][1000 genomes]
rs61977390	1.00[ASN][1000 genomes]
rs61977393	1.00[AFR][1000 genomes]
rs61977394	1.00[AFR][1000 genomes]
rs61977396	1.00[AFR][1000 genomes]
rs61977399	1.00[AFR][1000 genomes]
rs61977400	1.00[AFR][1000 genomes]
rs61977401	1.00[AFR][1000 genomes]
rs61980655	1.00[ASN][1000 genomes]
rs8022808	1.00[AFR][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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70429800-70450000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr14:70433200-70454000	Strong transcription	Liver	Liver
3	chr14:70439000-70458800	Weak transcription	Gastric	stomach
4	chr14:70439800-70477200	Weak transcription	Spleen	Spleen
5	chr14:70441400-70451800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:70442200-70451800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:70445600-70449800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:70445600-70450600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr14:70445800-70450400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
10	chr14:70446000-70449600	Weak transcription	Fetal Brain Female	brain
11	chr14:70446200-70449800	Enhancers	HMEC	breast
12	chr14:70446400-70449600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:70446400-70449600	Enhancers	NHEK	skin
14	chr14:70446400-70449800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:70446800-70449800	Enhancers	Pancreas	Pancrea
16	chr14:70447000-70454400	Genic enhancers	Hela-S3	cervix
17	chr14:70447400-70449600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:70447600-70449600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr14:70447600-70450000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr14:70447600-70454400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr14:70447800-70450600	Enhancers	Brain Cingulate Gyrus	brain
22	chr14:70448000-70449600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:70448000-70450200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:70448200-70449600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:70448200-70450400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr14:70448200-70450600	Enhancers	Fetal Stomach	stomach
27	chr14:70448200-70453000	Weak transcription	Brain Germinal Matrix	brain
28	chr14:70448200-70455000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr14:70448400-70452000	Weak transcription	HepG2	liver
30	chr14:70448400-70453400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr14:70448400-70453600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr14:70448600-70449600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr14:70448600-70449800	Enhancers	Psoas Muscle	Psoas
34	chr14:70448600-70449800	Enhancers	Right Atrium	heart
35	chr14:70448600-70453400	Weak transcription	Brain Hippocampus Middle	brain
36	chr14:70448800-70450200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:70448800-70450600	Enhancers	Fetal Muscle Leg	muscle
38	chr14:70448800-70451000	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr14:70448800-70451800	Weak transcription	A549	lung
40	chr14:70449000-70449600	Enhancers	Brain Anterior Caudate	brain
41	chr14:70449000-70450000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr14:70449000-70450600	Enhancers	Fetal Brain Male	brain
43	chr14:70449000-70451800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:70449200-70449600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
45	chr14:70449200-70449800	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:70449200-70449800	Bivalent Enhancer	Left Ventricle	heart
47	chr14:70449200-70449800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr14:70449200-70450000	Enhancers	Brain Substantia Nigra	brain
49	chr14:70449200-70450600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr14:70449200-70451600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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