Variant report

Variant	rs1256440
Chromosome Location	chr15:83539242-83539243
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:83537400..83539561-chr15:83557067..83559274,2	MCF-7	breast:
2	chr15:83517714..83519643-chr15:83539190..83541099,2	MCF-7	breast:
3	chr15:83539080..83540967-chr15:83679708..83682036,2	K562	blood:

Variant related genes	Relation type
ENSG00000169609	Chromatin interaction
ENSG00000260608	Chromatin interaction
ENSG00000103942	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1021022	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12385947	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1256424	0.86[EUR][1000 genomes]
rs1256436	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1256438	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1256439	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1256441	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1256442	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1256443	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1256444	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1256445	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1256446	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1256447	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1256448	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1256449	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1256450	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1256454	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17294229	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2251275	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2621226	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2667378	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2667379	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2667380	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2667384	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55633961	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6603035	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7173264	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7173683	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8031927	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8036957	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs880289	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469557	chr15:83417763-83560629	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv482340	chr15:83417763-83560629	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv471687	chr15:83417764-83560629	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83504600-83549400	Weak transcription	Psoas Muscle	Psoas
2	chr15:83506200-83543800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr15:83507200-83539400	Weak transcription	Fetal Intestine Small	intestine
4	chr15:83514400-83542800	Weak transcription	Primary T cells from cord blood	blood
5	chr15:83519000-83541400	Weak transcription	Brain Anterior Caudate	brain
6	chr15:83519800-83544400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr15:83520000-83543600	Weak transcription	HSMM	muscle
8	chr15:83520000-83549800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr15:83520000-83563800	Weak transcription	Brain Hippocampus Middle	brain
10	chr15:83520200-83542000	Weak transcription	Brain Angular Gyrus	brain
11	chr15:83520200-83547000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr15:83522400-83543400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr15:83522600-83542200	Weak transcription	Fetal Muscle Leg	muscle
14	chr15:83523400-83540000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr15:83523400-83540800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr15:83523600-83541400	Weak transcription	Fetal Stomach	stomach
17	chr15:83523600-83558000	Weak transcription	Esophagus	oesophagus
18	chr15:83524600-83567800	Weak transcription	Left Ventricle	heart
19	chr15:83524800-83563800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr15:83526000-83541800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr15:83527200-83539600	Weak transcription	HSMMtube	muscle
22	chr15:83528000-83540400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr15:83528000-83540800	Weak transcription	Gastric	stomach
24	chr15:83528000-83542000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr15:83528000-83544000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr15:83533000-83539400	Weak transcription	Liver	Liver
27	chr15:83536600-83539800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr15:83537000-83551400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr15:83537400-83540400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr15:83537800-83539400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr15:83537800-83539600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr15:83538000-83549600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr15:83538800-83539400	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr15:83539000-83540200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr15:83539000-83541000	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr15:83539000-83541000	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr15:83539000-83541800	Enhancers	Primary hematopoietic stem cells	blood
38	chr15:83539000-83542000	Genic enhancers	Pancreas	Pancrea
39	chr15:83539200-83541600	Enhancers	Primary B cells from peripheral blood	blood
40	chr15:83539200-83542000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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