Variant report

Variant	rs57476769
Chromosome Location	chr14:72022462-72022463
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:71787679..71789228-chr14:72021857..72023772,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197555	Chromatin interaction
ENSG00000259146	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs55647033	1.00[AMR][1000 genomes]
rs55843519	1.00[AMR][1000 genomes]
rs55893880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56135446	1.00[AMR][1000 genomes]
rs56335120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56861516	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58376035	1.00[AMR][1000 genomes]
rs58529740	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59405734	1.00[AMR][1000 genomes]
rs59476175	0.82[AFR][1000 genomes]
rs59553790	0.82[AFR][1000 genomes]
rs60239886	1.00[AMR][1000 genomes]
rs60600157	1.00[AMR][1000 genomes]
rs74060357	0.82[AFR][1000 genomes]
rs74060363	0.82[AFR][1000 genomes]
rs74060369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060386	1.00[AMR][1000 genomes]
rs74060387	1.00[AMR][1000 genomes]
rs74060390	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060391	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498021	chr14:71874708-72128721	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72015600-72023000	Weak transcription	Pancreas	Pancrea
2	chr14:72017800-72022800	Weak transcription	Brain Substantia Nigra	brain
3	chr14:72018000-72030000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr14:72018400-72022600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr14:72018400-72022800	Weak transcription	Brain Hippocampus Middle	brain
6	chr14:72018800-72022800	Weak transcription	Fetal Heart	heart
7	chr14:72019000-72022800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:72019000-72023200	Weak transcription	HSMM	muscle
9	chr14:72019400-72023800	Enhancers	Primary B cells from peripheral blood	blood
10	chr14:72019600-72024400	Enhancers	Fetal Intestine Large	intestine
11	chr14:72019800-72023000	Weak transcription	Brain Angular Gyrus	brain
12	chr14:72020000-72024000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr14:72020800-72023400	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr14:72021000-72024400	Enhancers	Fetal Intestine Small	intestine
15	chr14:72021200-72023400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr14:72021200-72023400	Flanking Active TSS	Dnd41	blood
17	chr14:72021200-72023800	Enhancers	Hela-S3	cervix
18	chr14:72021400-72022600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr14:72021600-72022800	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr14:72021800-72022600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr14:72021800-72022600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:72021800-72022800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr14:72021800-72023200	Enhancers	NHDF-Ad	bronchial
24	chr14:72021800-72023600	Enhancers	HepG2	liver
25	chr14:72021800-72023800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr14:72021800-72023800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr14:72021800-72023800	Enhancers	Fetal Thymus	thymus
28	chr14:72021800-72023800	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr14:72021800-72023800	Enhancers	Small Intestine	intestine
30	chr14:72021800-72023800	Enhancers	K562	blood
31	chr14:72022000-72022600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:72022000-72022600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr14:72022000-72022600	Weak transcription	Spleen	Spleen
34	chr14:72022000-72022800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr14:72022000-72023000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:72022000-72023600	Enhancers	Colonic Mucosa	Colon
37	chr14:72022000-72024400	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr14:72022200-72022600	Active TSS	Primary B cells from cord blood	blood
39	chr14:72022200-72022600	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr14:72022200-72022600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr14:72022200-72022600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr14:72022200-72022600	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr14:72022200-72022600	Flanking Active TSS	Thymus	Thymus
44	chr14:72022200-72022600	Active TSS	GM12878-XiMat	blood
45	chr14:72022200-72022600	Enhancers	Osteobl	bone
46	chr14:72022200-72022800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr14:72022200-72023000	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr14:72022200-72024400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr14:72022200-72024400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr14:72022400-72022600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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