Variant report

Variant	rs72646348
Chromosome Location	chr8:48427240-48427241
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr8:48425975-48427552	MCF10A-Er-Src	breast:	n/a	chr8:48426512-48426522
2	MYC	chr8:48427144-48427553	MCF10A-Er-Src	breast:	n/a	n/a
3	CEBPB	chr8:48427188-48427573	Hela-S3	cervix:	n/a	n/a
4	RCOR1	chr8:48427138-48427261	K562	blood:	n/a	n/a
5	POLR2A	chr8:48424602-48427541	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr8:48424755-48427380	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:48424729..48427909-chr8:48454789..48458165,3	MCF-7	breast:
2	chr8:48425055..48429090-chr8:48432986..48438786,8	MCF-7	breast:
3	chr8:48416787..48427648-chr8:48644938..48653304,27	MCF-7	breast:
4	chr8:48417772..48429044-chr8:48646094..48652486,42	MCF-7	breast:
5	chr8:48425858..48428805-chr8:48433583..48436429,2	MCF-7	breast:
6	chr8:48424864..48427564-chr8:48437009..48439123,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253330	TF binding region
ENSG00000164808	Chromatin interaction
ENSG00000221869	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10107926	0.91[EUR][1000 genomes]
rs10481296	0.91[EUR][1000 genomes]
rs12216833	0.96[EUR][1000 genomes]
rs1552667	0.91[EUR][1000 genomes]
rs16927307	1.00[EUR][1000 genomes]
rs55841214	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55918561	1.00[EUR][1000 genomes]
rs56107210	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56391539	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58828084	0.98[EUR][1000 genomes]
rs6472453	0.83[EUR][1000 genomes]
rs6989958	0.96[EUR][1000 genomes]
rs6992139	0.96[EUR][1000 genomes]
rs7011833	0.87[EUR][1000 genomes]
rs72644585	0.88[EUR][1000 genomes]
rs72644587	0.83[EUR][1000 genomes]
rs72644597	0.96[EUR][1000 genomes]
rs72644602	0.94[EUR][1000 genomes]
rs72646317	0.88[EUR][1000 genomes]
rs72646321	0.96[EUR][1000 genomes]
rs72646324	0.96[EUR][1000 genomes]
rs72646330	0.89[EUR][1000 genomes]
rs72646350	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7822371	0.91[EUR][1000 genomes]
rs7829543	1.00[EUR][1000 genomes]
rs7834901	0.91[EUR][1000 genomes]
rs7839055	0.91[EUR][1000 genomes]
rs9643810	0.84[EUR][1000 genomes]
rs9650144	0.81[AMR][1000 genomes];0.96[EUR][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	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1023409	chr8:48320442-48454089	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv539595	chr8:48320442-48454089	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv890848	chr8:48405007-48535622	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv470211	chr8:48405007-48545961	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48418400-48436000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:48421800-48435200	Weak transcription	Primary B cells from cord blood	blood
3	chr8:48422000-48434800	Weak transcription	Fetal Thymus	thymus
4	chr8:48423200-48428400	Enhancers	Placenta	Placenta
5	chr8:48423800-48428400	Enhancers	Fetal Heart	heart
6	chr8:48423800-48436000	Weak transcription	Gastric	stomach
7	chr8:48423800-48436800	Weak transcription	Thymus	Thymus
8	chr8:48424200-48428200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:48424200-48428200	Enhancers	Colon Smooth Muscle	Colon
10	chr8:48424200-48428200	Enhancers	Fetal Stomach	stomach
11	chr8:48424400-48428200	Enhancers	Brain Anterior Caudate	brain
12	chr8:48424400-48428400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:48424400-48438800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:48424600-48427800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:48424800-48427400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:48424800-48428200	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr8:48424800-48428200	Enhancers	Stomach Mucosa	stomach
18	chr8:48424800-48432000	Weak transcription	Ovary	ovary
19	chr8:48424800-48435000	Weak transcription	Spleen	Spleen
20	chr8:48425000-48428200	Enhancers	Fetal Muscle Leg	muscle
21	chr8:48425000-48428800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr8:48425000-48429000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr8:48425000-48429600	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr8:48425200-48427800	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr8:48425200-48428200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr8:48425200-48428200	Enhancers	Rectal Smooth Muscle	rectum
27	chr8:48425600-48427400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr8:48425600-48427600	Enhancers	Liver	Liver
29	chr8:48425600-48427800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:48425600-48428000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr8:48425600-48428200	Enhancers	Brain Hippocampus Middle	brain
32	chr8:48425600-48428200	Enhancers	Duodenum Mucosa	Duodenum
33	chr8:48425600-48428200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr8:48425600-48429200	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr8:48425800-48427600	Enhancers	NHEK	skin
36	chr8:48425800-48427800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:48425800-48427800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr8:48425800-48428000	Enhancers	Fetal Kidney	kidney
39	chr8:48425800-48428000	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr8:48425800-48428000	Enhancers	HSMMtube	muscle
41	chr8:48425800-48428200	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr8:48425800-48428200	Enhancers	Adipose Nuclei	Adipose
43	chr8:48425800-48428200	Enhancers	Osteobl	bone
44	chr8:48425800-48428400	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr8:48425800-48429600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr8:48426000-48427600	Flanking Active TSS	GM12878-XiMat	blood
47	chr8:48426000-48428200	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr8:48426000-48428200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr8:48426000-48428200	Enhancers	HMEC	breast
50	chr8:48426200-48427800	Enhancers	Brain Inferior Temporal Lobe	brain

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