Variant report

Variant	rs176954
Chromosome Location	chr14:78180908-78180909
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	chr14:78179028..78181714-chr14:78184797..78186792,2	MCF-7	breast:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10134425	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10138747	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10139492	0.95[ASN][1000 genomes]
rs10143249	0.90[ASN][1000 genomes]
rs10143294	0.93[ASN][1000 genomes]
rs10144448	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10146255	0.90[ASN][1000 genomes]
rs10483885	0.98[ASN][1000 genomes]
rs114763	0.98[ASN][1000 genomes]
rs11621719	0.87[ASN][1000 genomes]
rs11622761	0.87[ASN][1000 genomes]
rs11624118	0.86[ASN][1000 genomes]
rs11846215	0.83[ASN][1000 genomes]
rs12879880	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12887313	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12890828	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1477263	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1477264	0.92[ASN][1000 genomes]
rs176941	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs176947	0.95[ASN][1000 genomes]
rs176948	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs176956	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs176959	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs176961	0.98[ASN][1000 genomes]
rs176963	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs176964	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs176965	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs176968	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs176969	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs176970	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs176972	0.98[ASN][1000 genomes]
rs176975	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs176976	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs176977	0.95[ASN][1000 genomes]
rs2080703	0.93[ASN][1000 genomes]
rs2111831	0.83[ASN][1000 genomes]
rs2267756	0.93[ASN][1000 genomes]
rs2267762	0.92[ASN][1000 genomes]
rs2267763	0.93[ASN][1000 genomes]
rs2267764	0.93[ASN][1000 genomes]
rs2267766	0.89[AMR][1000 genomes]
rs2277917	0.92[ASN][1000 genomes]
rs2284233	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2284234	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2284235	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3783981	0.93[ASN][1000 genomes]
rs3783982	0.93[ASN][1000 genomes]
rs4641655	0.90[ASN][1000 genomes]
rs4899670	0.95[ASN][1000 genomes]
rs4899673	0.98[ASN][1000 genomes]
rs4899674	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4903638	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61992864	0.82[ASN][1000 genomes]
rs61992867	0.84[ASN][1000 genomes]
rs61992868	0.84[ASN][1000 genomes]
rs6574392	0.95[ASN][1000 genomes]
rs6574394	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6574399	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7143926	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7145717	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7148078	0.93[ASN][1000 genomes]
rs7148126	0.93[ASN][1000 genomes]
rs7150531	0.88[ASN][1000 genomes]
rs7151685	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7154571	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7159310	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7160355	0.94[ASN][1000 genomes]
rs717682	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72210300	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs759713	0.95[ASN][1000 genomes]
rs8010541	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8015645	0.94[ASN][1000 genomes]
rs8022516	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9323649	0.93[ASN][1000 genomes]
rs9323651	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	esv2757575	chr14:78104897-78212462	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv34940	chr14:78104897-78222798	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv521287	chr14:78108003-78211225	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv520021	chr14:78152921-78208294	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78175600-78182200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:78176200-78185400	Weak transcription	Fetal Heart	heart
3	chr14:78176200-78206000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr14:78176200-78208400	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr14:78176200-78224000	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr14:78176200-78225400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:78176400-78206200	Strong transcription	Fetal Thymus	thymus
8	chr14:78176400-78223400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr14:78176400-78224200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr14:78176600-78181000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr14:78176600-78182000	Strong transcription	Primary T cells from cord blood	blood
12	chr14:78176600-78182400	Strong transcription	HUVEC	blood vessel
13	chr14:78176600-78187200	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr14:78176600-78187200	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr14:78176600-78197400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:78176600-78204600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr14:78176600-78205200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr14:78176600-78205400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:78176600-78205600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr14:78176600-78205600	Strong transcription	Adipose Nuclei	Adipose
21	chr14:78176600-78205800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr14:78176600-78213200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr14:78176600-78223200	Strong transcription	Fetal Muscle Leg	muscle
24	chr14:78176600-78224200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:78176800-78181800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr14:78176800-78181800	Strong transcription	NHEK	skin
27	chr14:78176800-78182000	Strong transcription	Primary B cells from cord blood	blood
28	chr14:78176800-78182000	Strong transcription	NH-A	brain
29	chr14:78176800-78182200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr14:78176800-78182400	Strong transcription	A549	lung
31	chr14:78176800-78183800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr14:78176800-78190200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr14:78176800-78191400	Weak transcription	Fetal Brain Male	brain
34	chr14:78176800-78192800	Strong transcription	Osteobl	bone
35	chr14:78176800-78205200	Strong transcription	Stomach Smooth Muscle	stomach
36	chr14:78176800-78205600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr14:78176800-78205600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr14:78176800-78205600	Strong transcription	Placenta	Placenta
39	chr14:78176800-78205800	Strong transcription	Fetal Muscle Trunk	muscle
40	chr14:78176800-78206200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr14:78176800-78207400	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr14:78176800-78208200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:78176800-78210800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:78176800-78221800	Strong transcription	Primary B cells from peripheral blood	blood
45	chr14:78176800-78222200	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr14:78177000-78181800	Strong transcription	Hela-S3	cervix
47	chr14:78177000-78182400	Strong transcription	HSMM	muscle
48	chr14:78177000-78187200	Strong transcription	Thymus	Thymus
49	chr14:78177000-78189200	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr14:78177000-78194800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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