Variant report

Variant	rs12892540
Chromosome Location	chr14:65238832-65238833
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65233747..65236577-chr14:65237458..65240181,3	MCF-7	breast:
2	chr14:65238323..65239708-chr14:65358202..65359292,7	MCF-7	breast:
3	chr14:65238831..65239785-chr14:65358174..65359063,5	MCF-7	breast:
4	chr14:65238451..65239528-chr14:65450464..65451490,3	MCF-7	breast:
5	chr14:65238740..65239678-chr14:65450354..65450864,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000070182	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10148978	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12883860	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12884320	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12885036	1.00[CEU][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12889768	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs189086	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs229582	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs229598	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs229601	0.93[ASN][1000 genomes]
rs229602	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34132719	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34494653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34935243	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35621884	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35752616	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8003047	1.00[JPT][hapmap]

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	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1035833	chr14:65176371-65246181	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	esv1801406	chr14:65193725-65264416	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
4	nsv902023	chr14:65200821-65243885	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv902024	chr14:65200821-65244950	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv902025	chr14:65229364-65246181	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv519823	chr14:65230059-65241933	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65228400-65265000	Weak transcription	Aorta	Aorta
2	chr14:65229600-65246200	Weak transcription	Psoas Muscle	Psoas
3	chr14:65231600-65242400	Strong transcription	Right Ventricle	heart
4	chr14:65231600-65244000	Strong transcription	Skeletal Muscle Male	skeletal muscle
5	chr14:65231600-65244400	Strong transcription	Skeletal Muscle Female	skeletal muscle
6	chr14:65231600-65250600	Weak transcription	Brain Angular Gyrus	brain
7	chr14:65231600-65250600	Weak transcription	Brain Anterior Caudate	brain
8	chr14:65231600-65261400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:65232000-65246000	Weak transcription	Pancreas	Pancrea
10	chr14:65232200-65239400	Weak transcription	Brain Hippocampus Middle	brain
11	chr14:65232200-65244600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr14:65232200-65274200	Weak transcription	Gastric	stomach
13	chr14:65232600-65242600	Strong transcription	K562	blood
14	chr14:65233000-65265600	Weak transcription	Fetal Brain Male	brain
15	chr14:65233600-65242400	Strong transcription	Left Ventricle	heart
16	chr14:65234800-65241000	Weak transcription	Spleen	Spleen
17	chr14:65235600-65239800	Strong transcription	Brain Germinal Matrix	brain
18	chr14:65236000-65239400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr14:65236000-65239600	Weak transcription	Fetal Heart	heart
20	chr14:65236200-65239200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:65236200-65239600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:65237000-65239000	Enhancers	Primary T cells from cord blood	blood
23	chr14:65237000-65239200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr14:65237000-65242600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr14:65237200-65239200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr14:65237200-65240000	Strong transcription	Fetal Muscle Leg	muscle
27	chr14:65237400-65239000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr14:65237400-65239000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr14:65237400-65239200	Enhancers	Primary T cells fromperipheralblood	blood
30	chr14:65237400-65239200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr14:65237400-65242400	Strong transcription	Fetal Muscle Trunk	muscle
32	chr14:65237800-65239000	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr14:65237800-65240200	Strong transcription	Pancreatic Islets	Pancreatic Islet
34	chr14:65238000-65239200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr14:65238400-65241400	Strong transcription	Fetal Brain Female	brain
36	chr14:65238800-65240200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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