Variant report

Variant	rs6573980
Chromosome Location	chr14:71224525-71224526
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	chr14:71218602..71225147-chr14:71276029..71280278,8	MCF-7	breast:
2	chr14:71223792..71224650-chr14:71284153..71284837,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000006432	Chromatin interaction
ENSG00000259153	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1034769	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10873241	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10873242	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12589737	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1476609	0.99[ASN][1000 genomes]
rs1476610	0.85[AFR][1000 genomes]
rs2107666	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2332455	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2332458	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4141095	0.85[AFR][1000 genomes]
rs4899368	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4899369	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4902844	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4902852	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573978	0.85[AFR][1000 genomes]
rs7140653	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7152516	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8007131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011507	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8018294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039460	chr14:71176898-71371125	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71197000-71228800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr14:71201200-71228000	Weak transcription	Colonic Mucosa	Colon
3	chr14:71204800-71229400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr14:71206800-71231600	Weak transcription	Brain Anterior Caudate	brain
5	chr14:71209200-71229400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr14:71209400-71238200	Weak transcription	Fetal Stomach	stomach
7	chr14:71209400-71238400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:71209400-71238400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr14:71209600-71229000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr14:71212000-71238200	Weak transcription	Fetal Intestine Small	intestine
11	chr14:71215600-71227000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:71215600-71227400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr14:71215800-71227000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr14:71215800-71232200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr14:71216200-71226800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:71216400-71238200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:71216600-71224600	Weak transcription	Placenta	Placenta
18	chr14:71216600-71245800	Weak transcription	Brain Germinal Matrix	brain
19	chr14:71216800-71225600	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr14:71216800-71226400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr14:71216800-71238400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:71220200-71229000	Weak transcription	Brain Angular Gyrus	brain
23	chr14:71220600-71231400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr14:71220600-71238600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr14:71220800-71227600	Weak transcription	Lung	lung
26	chr14:71220800-71240400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr14:71220800-71266400	Weak transcription	Fetal Intestine Large	intestine
28	chr14:71221000-71237600	Weak transcription	Fetal Kidney	kidney
29	chr14:71221800-71239600	Weak transcription	Liver	Liver
30	chr14:71222200-71238000	Weak transcription	Esophagus	oesophagus
31	chr14:71222200-71238200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:71222200-71238200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr14:71222200-71258200	Weak transcription	HepG2	liver
34	chr14:71222400-71230400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:71222400-71238200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr14:71222600-71229200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr14:71222600-71274600	Weak transcription	Hela-S3	cervix
38	chr14:71222800-71226800	Weak transcription	Fetal Brain Female	brain
39	chr14:71222800-71227000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr14:71222800-71227200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr14:71222800-71238200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr14:71223000-71226800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr14:71223000-71258400	Weak transcription	Primary T cells from cord blood	blood
44	chr14:71223000-71266600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:71223200-71227000	Weak transcription	Gastric	stomach
46	chr14:71223200-71227200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr14:71223400-71226200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr14:71223400-71226200	Weak transcription	GM12878-XiMat	blood
49	chr14:71223400-71226800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr14:71223400-71226800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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