Variant report

Variant	rs4873151
Chromosome Location	chr8:48428396-48428397
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48425055..48429090-chr8:48432986..48438786,8	MCF-7	breast:
2	chr8:48417772..48429044-chr8:48646094..48652486,42	MCF-7	breast:
3	chr8:48425858..48428805-chr8:48433583..48436429,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221869	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1552666	0.89[AMR][1000 genomes]
rs9785094	0.90[AMR][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:78 , 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	chr8:48424400-48428400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:48424400-48438800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr8:48424800-48432000	Weak transcription	Ovary	ovary
11	chr8:48424800-48435000	Weak transcription	Spleen	Spleen
12	chr8:48425000-48428800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr8:48425000-48429000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:48425000-48429600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr8:48425600-48429200	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr8:48425800-48428400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr8:48425800-48429600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:48426200-48428600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:48426200-48428600	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr8:48426200-48428600	Enhancers	NHLF	lung
21	chr8:48426400-48428800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:48426400-48435000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:48426600-48428400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:48426600-48428400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:48426600-48428400	Enhancers	Fetal Lung	lung
26	chr8:48426600-48434800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr8:48426800-48428400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr8:48426800-48428400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr8:48426800-48428600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr8:48426800-48428600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr8:48426800-48432800	Weak transcription	Brain Substantia Nigra	brain
32	chr8:48426800-48434800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr8:48426800-48436400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr8:48427000-48432800	Weak transcription	Primary T cells from cord blood	blood
35	chr8:48427000-48434800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr8:48427200-48428400	Enhancers	Hela-S3	cervix
37	chr8:48427200-48431800	Weak transcription	Lung	lung
38	chr8:48427200-48435000	Weak transcription	Fetal Intestine Small	intestine
39	chr8:48427200-48436000	Weak transcription	Aorta	Aorta
40	chr8:48427600-48428600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr8:48427600-48433000	Weak transcription	Liver	Liver
42	chr8:48427800-48428400	Weak transcription	Left Ventricle	heart
43	chr8:48427800-48433200	Weak transcription	Right Atrium	heart
44	chr8:48427800-48433400	Weak transcription	Pancreas	Pancrea
45	chr8:48427800-48433400	Weak transcription	Psoas Muscle	Psoas
46	chr8:48427800-48434800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr8:48427800-48434800	Weak transcription	HSMM	muscle
48	chr8:48427800-48435000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr8:48427800-48435800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr8:48427800-48437000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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