Variant report

Variant	rs5745587
Chromosome Location	chr6:33545125-33545126
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33391848..33395045-chr6:33544542..33547433,3	MCF-7	breast:
2	chr6:33538816..33540942-chr6:33543611..33545834,3	MCF-7	breast:
3	chr6:33543423..33546353-chr6:33546588..33548866,2	K562	blood:

Variant related genes	Relation type
ENSG00000030110	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10807126	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10947409	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11968218	0.90[ASN][1000 genomes]
rs12206050	0.83[ASN][1000 genomes]
rs12214883	0.88[ASN][1000 genomes]
rs210157	0.81[ASN][1000 genomes]
rs3846855	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs5745568	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5745582	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61292931	0.92[AFR][1000 genomes]
rs6914422	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6925471	0.87[AFR][1000 genomes]
rs9296095	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9357161	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9366824	0.90[ASN][1000 genomes]
rs9380371	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9469485	0.80[AMR][1000 genomes];0.87[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	nsv462896	chr6:33534880-33588147	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv602833	chr6:33534880-33588147	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv885770	chr6:33543409-33614127	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5745587	BAK1	cis	Whole Blood	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33539200-33547200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:33539600-33546200	Weak transcription	NHDF-Ad	bronchial
3	chr6:33539600-33546400	Weak transcription	Fetal Brain Male	brain
4	chr6:33539600-33547000	Weak transcription	Fetal Kidney	kidney
5	chr6:33539800-33545400	Strong transcription	Fetal Intestine Small	intestine
6	chr6:33539800-33546400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:33539800-33547000	Weak transcription	Psoas Muscle	Psoas
8	chr6:33540000-33546400	Strong transcription	Fetal Stomach	stomach
9	chr6:33540200-33545800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:33540200-33545800	Strong transcription	Fetal Muscle Leg	muscle
11	chr6:33540200-33546000	Weak transcription	Fetal Heart	heart
12	chr6:33541000-33545200	Strong transcription	Fetal Muscle Trunk	muscle
13	chr6:33541000-33545400	Strong transcription	Brain Germinal Matrix	brain
14	chr6:33541200-33545800	Strong transcription	Fetal Brain Female	brain
15	chr6:33541200-33546000	Strong transcription	Osteobl	bone
16	chr6:33541200-33546400	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr6:33541400-33545200	Strong transcription	Left Ventricle	heart
18	chr6:33541400-33545400	Strong transcription	Aorta	Aorta
19	chr6:33541600-33545200	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr6:33541600-33545200	Strong transcription	Brain Inferior Temporal Lobe	brain
21	chr6:33541600-33545200	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr6:33541600-33545400	Strong transcription	Placenta Amnion	Placenta Amnion
23	chr6:33541600-33545800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:33541600-33545800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
25	chr6:33541600-33546000	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr6:33541600-33546000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr6:33541600-33546000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:33541600-33546000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:33541600-33546000	Strong transcription	Fetal Intestine Large	intestine
30	chr6:33541600-33546200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:33541600-33546600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:33541800-33545200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
33	chr6:33541800-33545200	Strong transcription	K562	blood
34	chr6:33541800-33545400	Strong transcription	Brain Hippocampus Middle	brain
35	chr6:33541800-33545600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:33541800-33546000	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr6:33541800-33546200	Strong transcription	NHLF	lung
38	chr6:33542000-33545800	Strong transcription	Colon Smooth Muscle	Colon
39	chr6:33542000-33546000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr6:33542000-33546000	Strong transcription	HepG2	liver
41	chr6:33542200-33546200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:33543200-33546400	Weak transcription	A549	lung
43	chr6:33543400-33546600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr6:33543400-33547000	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr6:33543400-33547200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:33543600-33546000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:33543600-33546600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr6:33543600-33547200	Weak transcription	HSMMtube	muscle
49	chr6:33543800-33545200	Weak transcription	Gastric	stomach
50	chr6:33543800-33545800	Weak transcription	Right Ventricle	heart

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