Variant report

Variant	rs72646345
Chromosome Location	chr8:48421141-48421142
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000221869	Chromatin interaction
ENSG00000164808	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs55869763	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72644583	1.00[AMR][1000 genomes]
rs72644595	1.00[AMR][1000 genomes]
rs72646319	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72646331	1.00[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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48397600-48426400	Weak transcription	Aorta	Aorta
2	chr8:48398200-48421600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:48398800-48423400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:48404800-48421200	Weak transcription	Lung	lung
5	chr8:48410600-48424000	Weak transcription	Brain Angular Gyrus	brain
6	chr8:48410800-48421600	Weak transcription	HSMM	muscle
7	chr8:48411600-48424000	Weak transcription	Fetal Kidney	kidney
8	chr8:48411800-48423400	Weak transcription	A549	lung
9	chr8:48411800-48423400	Weak transcription	Hela-S3	cervix
10	chr8:48411800-48423800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr8:48412000-48421600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:48412000-48421600	Weak transcription	Fetal Lung	lung
13	chr8:48416800-48421800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr8:48416800-48423800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr8:48418400-48422600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr8:48418400-48423600	Weak transcription	Fetal Stomach	stomach
17	chr8:48418400-48424600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:48418400-48436000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:48418600-48422000	Enhancers	Fetal Muscle Leg	muscle
20	chr8:48418600-48422600	Enhancers	Primary B cells from peripheral blood	blood
21	chr8:48418600-48423400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr8:48418800-48421800	Weak transcription	Dnd41	blood
23	chr8:48419400-48421800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr8:48419600-48421600	Weak transcription	Adipose Nuclei	Adipose
25	chr8:48419600-48422000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:48419600-48422000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:48419600-48422600	Enhancers	Right Atrium	heart
28	chr8:48419600-48422800	Enhancers	Placenta	Placenta
29	chr8:48419600-48423400	Weak transcription	Gastric	stomach
30	chr8:48419800-48421200	Enhancers	NHEK	skin
31	chr8:48419800-48421800	Weak transcription	Colonic Mucosa	Colon
32	chr8:48419800-48421800	Enhancers	Psoas Muscle	Psoas
33	chr8:48419800-48421800	Enhancers	GM12878-XiMat	blood
34	chr8:48419800-48422600	Enhancers	Pancreas	Pancrea
35	chr8:48420000-48423400	Weak transcription	HSMMtube	muscle
36	chr8:48420200-48421600	Weak transcription	Fetal Intestine Small	intestine
37	chr8:48420200-48421800	Genic enhancers	Primary B cells from cord blood	blood
38	chr8:48420200-48423400	Weak transcription	Ovary	ovary
39	chr8:48420200-48426400	Weak transcription	Esophagus	oesophagus
40	chr8:48420400-48421200	Enhancers	Fetal Heart	heart
41	chr8:48420400-48422000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:48420400-48425000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr8:48420600-48421200	Enhancers	K562	blood
44	chr8:48420600-48421600	Weak transcription	Liver	Liver
45	chr8:48420600-48421600	Weak transcription	Left Ventricle	heart
46	chr8:48420600-48421600	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr8:48420600-48422000	Enhancers	Small Intestine	intestine
48	chr8:48420600-48422600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr8:48420600-48424000	Weak transcription	NH-A	brain
50	chr8:48420600-48424600	Weak transcription	HMEC	breast

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