Variant report

Variant	rs34392879
Chromosome Location	chr8:48423831-48423832
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48423448..48424045-chr8:48651002..48651682,2	MCF-7	breast:
2	chr8:48416787..48427648-chr8:48644938..48653304,27	MCF-7	breast:
3	chr8:48417772..48429044-chr8:48646094..48652486,42	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164808	Chromatin interaction
ENSG00000221869	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs72646352	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48397600-48426400	Weak transcription	Aorta	Aorta
2	chr8:48410600-48424000	Weak transcription	Brain Angular Gyrus	brain
3	chr8:48411600-48424000	Weak transcription	Fetal Kidney	kidney
4	chr8:48418400-48424600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:48418400-48436000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:48420200-48426400	Weak transcription	Esophagus	oesophagus
7	chr8:48420400-48425000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:48420600-48424000	Weak transcription	NH-A	brain
9	chr8:48420600-48424600	Weak transcription	HMEC	breast
10	chr8:48420600-48424800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:48420600-48425000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:48420800-48424200	Weak transcription	Colon Smooth Muscle	Colon
13	chr8:48420800-48424400	Weak transcription	Brain Anterior Caudate	brain
14	chr8:48420800-48424800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:48420800-48425400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:48420800-48426000	Weak transcription	Primary T cells from cord blood	blood
17	chr8:48421000-48424400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:48421000-48424800	Weak transcription	Stomach Mucosa	stomach
19	chr8:48421200-48424600	Weak transcription	NHEK	skin
20	chr8:48421200-48426000	Weak transcription	K562	blood
21	chr8:48421800-48424200	Strong transcription	Dnd41	blood
22	chr8:48421800-48424600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr8:48421800-48435200	Weak transcription	Primary B cells from cord blood	blood
24	chr8:48422000-48424200	Weak transcription	Fetal Intestine Large	intestine
25	chr8:48422000-48434800	Weak transcription	Fetal Thymus	thymus
26	chr8:48422200-48424000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr8:48422200-48424400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr8:48422200-48425000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr8:48422200-48425600	Weak transcription	Brain Hippocampus Middle	brain
30	chr8:48422400-48424600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr8:48422600-48424000	Weak transcription	Spleen	Spleen
32	chr8:48422600-48424400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr8:48422600-48424600	Weak transcription	Liver	Liver
34	chr8:48422600-48424600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr8:48422600-48424800	Enhancers	Fetal Lung	lung
36	chr8:48422600-48425600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr8:48422600-48425600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:48422600-48425600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr8:48422600-48425600	Weak transcription	GM12878-XiMat	blood
40	chr8:48422600-48426200	Weak transcription	Primary B cells from peripheral blood	blood
41	chr8:48422600-48426200	Weak transcription	Fetal Brain Male	brain
42	chr8:48423000-48424600	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr8:48423200-48424600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:48423200-48425000	Enhancers	Lung	lung
45	chr8:48423200-48428400	Enhancers	Placenta	Placenta
46	chr8:48423400-48424000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr8:48423400-48424000	Strong transcription	Fetal Intestine Small	intestine
48	chr8:48423400-48424200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:48423400-48424200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr8:48423400-48424200	Genic enhancers	Fetal Muscle Trunk	muscle

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