Variant report

Variant	rs12879880
Chromosome Location	chr14:78211911-78211912
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:78173262..78175307-chr14:78210761..78212692,2	MCF-7	breast:
2	chr14:78172983..78174870-chr14:78210462..78212867,2	MCF-7	breast:
3	chr14:78211090..78212775-chr14:78225725..78227618,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100603	Chromatin interaction
ENSG00000197734	Chromatin interaction
ENSG00000119705	Chromatin interaction
ENSG00000100601	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10134425	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10138747	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10139492	0.88[ASN][1000 genomes]
rs10143249	0.84[ASN][1000 genomes]
rs10143294	0.87[ASN][1000 genomes]
rs10144448	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10146255	0.91[ASN][1000 genomes]
rs10483885	0.89[ASN][1000 genomes]
rs114763	0.92[ASN][1000 genomes]
rs11621719	0.83[ASN][1000 genomes]
rs11622761	0.83[ASN][1000 genomes]
rs11624118	0.83[ASN][1000 genomes]
rs11846215	0.84[ASN][1000 genomes]
rs12887313	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12890828	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1477263	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1477264	0.93[ASN][1000 genomes]
rs176941	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs176947	0.85[ASN][1000 genomes]
rs176948	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs176954	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs176956	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs176959	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs176961	0.92[ASN][1000 genomes]
rs176963	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs176964	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs176965	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs176968	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs176969	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs176970	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs176972	0.91[ASN][1000 genomes]
rs176975	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs176976	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs176977	0.88[ASN][1000 genomes]
rs2080703	0.87[ASN][1000 genomes]
rs2267756	0.87[ASN][1000 genomes]
rs2267762	0.86[ASN][1000 genomes]
rs2267763	0.87[ASN][1000 genomes]
rs2267764	0.87[ASN][1000 genomes]
rs2267766	0.83[AMR][1000 genomes]
rs2277917	0.93[ASN][1000 genomes]
rs2284233	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2284234	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2284235	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3783981	0.87[ASN][1000 genomes]
rs3783982	0.87[ASN][1000 genomes]
rs4641655	0.91[ASN][1000 genomes]
rs4899670	0.88[ASN][1000 genomes]
rs4899673	0.89[ASN][1000 genomes]
rs4899674	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4903638	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61992867	0.81[ASN][1000 genomes]
rs61992868	0.81[ASN][1000 genomes]
rs6574392	0.95[ASN][1000 genomes]
rs6574394	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6574399	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7143926	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7145717	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7148078	0.94[ASN][1000 genomes]
rs7148126	0.87[ASN][1000 genomes]
rs7150531	0.89[ASN][1000 genomes]
rs7151685	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7154571	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7159310	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7160355	0.95[ASN][1000 genomes]
rs717682	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs759713	0.88[ASN][1000 genomes]
rs8010541	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8015645	0.87[ASN][1000 genomes]
rs8022516	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9323649	0.87[ASN][1000 genomes]
rs9323651	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[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	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	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	chr14:78176200-78224000	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr14:78176200-78225400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr14:78176400-78223400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr14:78176400-78224200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr14:78176600-78213200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr14:78176600-78223200	Strong transcription	Fetal Muscle Leg	muscle
7	chr14:78176600-78224200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:78176800-78221800	Strong transcription	Primary B cells from peripheral blood	blood
9	chr14:78176800-78222200	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr14:78177000-78222600	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr14:78177000-78224200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:78177200-78223800	Strong transcription	Dnd41	blood
13	chr14:78177400-78222400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:78190600-78213400	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr14:78192200-78215400	Weak transcription	Small Intestine	intestine
16	chr14:78196200-78217800	Strong transcription	Fetal Stomach	stomach
17	chr14:78199000-78225200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:78199200-78212400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:78199200-78215800	Weak transcription	Esophagus	oesophagus
20	chr14:78199600-78225000	Weak transcription	Fetal Heart	heart
21	chr14:78200800-78212800	Strong transcription	Primary T cells from cord blood	blood
22	chr14:78201200-78212600	Weak transcription	Gastric	stomach
23	chr14:78201600-78226600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr14:78203400-78215400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:78203400-78217400	Weak transcription	Aorta	Aorta
26	chr14:78203800-78219400	Weak transcription	Fetal Brain Male	brain
27	chr14:78204000-78212000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr14:78204000-78215200	Weak transcription	Hela-S3	cervix
29	chr14:78205000-78213800	Weak transcription	Colonic Mucosa	Colon
30	chr14:78205000-78215800	Weak transcription	Right Ventricle	heart
31	chr14:78205000-78216000	Weak transcription	Psoas Muscle	Psoas
32	chr14:78205200-78213600	Weak transcription	Ovary	ovary
33	chr14:78205200-78213800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:78205200-78213800	Weak transcription	Pancreas	Pancrea
35	chr14:78205200-78213800	Weak transcription	Spleen	Spleen
36	chr14:78205400-78212200	Weak transcription	Colon Smooth Muscle	Colon
37	chr14:78205400-78212800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr14:78205400-78215200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr14:78205400-78215800	Weak transcription	NHLF	lung
40	chr14:78205400-78216200	Weak transcription	Brain Angular Gyrus	brain
41	chr14:78205400-78219400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr14:78205600-78212000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr14:78205600-78212200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr14:78205600-78215200	Weak transcription	Osteobl	bone
45	chr14:78205600-78215400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr14:78205600-78215400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr14:78205600-78215400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr14:78205600-78219200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr14:78205800-78212800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr14:78205800-78215400	Weak transcription	HSMMtube	muscle

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