Variant report

Variant	rs158113
Chromosome Location	chr14:77624396-77624397
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:77618647..77620331-chr14:77622173..77624872,2	K562	blood:
2	chr14:77617758..77621204-chr14:77622193..77625212,3	MCF-7	breast:
3	chr14:77624226..77624977-chr14:77679451..77680184,2	MCF-7	breast:
4	chr14:77623679..77628078-chr14:77791213..77793958,3	MCF-7	breast:
5	chr14:77615331..77626101-chr14:77782557..77793016,18	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100577	Chromatin interaction
ENSG00000009830	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2540889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2540890	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2655986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61567615	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	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv832834	chr14:77554987-77724357	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv976845	chr14:77621865-77649191	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77613800-77624800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:77621400-77624600	Weak transcription	Esophagus	oesophagus
3	chr14:77622000-77624800	Weak transcription	Left Ventricle	heart
4	chr14:77622000-77624800	Weak transcription	Right Atrium	heart
5	chr14:77624000-77624400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:77624000-77624600	Enhancers	H9 Cell Line	embryonic stem cell
7	chr14:77624000-77624600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:77624000-77625200	Enhancers	Gastric	stomach
9	chr14:77624000-77625600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:77624200-77624400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr14:77624200-77624400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
12	chr14:77624200-77624400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:77624200-77624400	Flanking Active TSS	Brain Angular Gyrus	brain
14	chr14:77624200-77624400	Enhancers	Brain Germinal Matrix	brain
15	chr14:77624200-77624400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:77624200-77624400	Flanking Active TSS	Brain Substantia Nigra	brain
17	chr14:77624200-77624400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
18	chr14:77624200-77624400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
19	chr14:77624200-77624400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
20	chr14:77624200-77624600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:77624200-77624600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr14:77624200-77624600	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr14:77624200-77624800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr14:77624200-77624800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr14:77624200-77624800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:77624200-77624800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr14:77624200-77624800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr14:77624200-77624800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:77624200-77624800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
30	chr14:77624200-77624800	Active TSS	Colon Smooth Muscle	Colon
31	chr14:77624200-77624800	Enhancers	Fetal Brain Male	brain
32	chr14:77624200-77624800	Enhancers	Fetal Brain Female	brain
33	chr14:77624200-77624800	Bivalent Enhancer	Placenta	Placenta
34	chr14:77624200-77624800	Bivalent Enhancer	NHLF	lung
35	chr14:77624200-77625000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:77624200-77625000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:77624200-77625000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:77624200-77625000	Enhancers	Right Ventricle	heart
39	chr14:77624200-77625000	Enhancers	HSMM	muscle
40	chr14:77624200-77625000	Enhancers	K562	blood
41	chr14:77624200-77625200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr14:77624200-77625200	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr14:77624200-77625200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
44	chr14:77624200-77625200	Enhancers	NH-A	brain
45	chr14:77624200-77625400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr14:77624200-77625400	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr14:77624200-77625400	Bivalent Enhancer	Fetal Muscle Leg	muscle
48	chr14:77624200-77625600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr14:77624200-77625600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr14:77624200-77625600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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