Variant report

Variant	rs72646350
Chromosome Location	chr8:48434841-48434842
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48433892..48441630-chr8:48644198..48652247,18	MCF-7	breast:
2	chr8:48425055..48429090-chr8:48432986..48438786,8	MCF-7	breast:
3	chr8:48432437..48435065-chr8:48648132..48650719,4	MCF-7	breast:
4	chr8:48425858..48428805-chr8:48433583..48436429,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221869	Chromatin interaction
ENSG00000164808	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	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]
rs72646348	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:97 , 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	chr8:48423800-48436000	Weak transcription	Gastric	stomach
4	chr8:48423800-48436800	Weak transcription	Thymus	Thymus
5	chr8:48424400-48438800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr8:48424800-48435000	Weak transcription	Spleen	Spleen
7	chr8:48426400-48435000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:48426800-48436400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:48427200-48435000	Weak transcription	Fetal Intestine Small	intestine
10	chr8:48427200-48436000	Weak transcription	Aorta	Aorta
11	chr8:48427800-48435000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:48427800-48435800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:48427800-48437000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:48428000-48435000	Weak transcription	Fetal Kidney	kidney
15	chr8:48428000-48435800	Weak transcription	HSMMtube	muscle
16	chr8:48428200-48435000	Weak transcription	GM12878-XiMat	blood
17	chr8:48428200-48435000	Weak transcription	HMEC	breast
18	chr8:48428200-48435800	Weak transcription	Brain Angular Gyrus	brain
19	chr8:48428200-48437400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr8:48428200-48439800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr8:48428600-48435800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr8:48428800-48435400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:48429200-48435000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr8:48432600-48436800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:48432600-48437000	Enhancers	Adipose Nuclei	Adipose
26	chr8:48432600-48439800	Enhancers	Fetal Lung	lung
27	chr8:48432800-48437000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:48433400-48436800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr8:48433400-48437200	Enhancers	Left Ventricle	heart
30	chr8:48433600-48435000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr8:48433600-48435800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr8:48433600-48435800	Weak transcription	Fetal Stomach	stomach
33	chr8:48433600-48435800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr8:48433800-48435000	Weak transcription	Brain Substantia Nigra	brain
35	chr8:48433800-48435000	Weak transcription	Pancreas	Pancrea
36	chr8:48433800-48435800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr8:48433800-48436000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:48433800-48436200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:48434000-48455400	Weak transcription	Primary T cells from cord blood	blood
40	chr8:48434200-48435800	Weak transcription	Psoas Muscle	Psoas
41	chr8:48434200-48439600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr8:48434200-48440000	Enhancers	Fetal Muscle Leg	muscle
43	chr8:48434400-48435000	Enhancers	Fetal Muscle Trunk	muscle
44	chr8:48434400-48435200	Enhancers	Ovary	ovary
45	chr8:48434400-48436000	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr8:48434400-48437000	Enhancers	Right Atrium	heart
47	chr8:48434400-48437600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr8:48434400-48439800	Enhancers	Placenta	Placenta
49	chr8:48434400-48439800	Enhancers	Stomach Mucosa	stomach
50	chr8:48434400-48440200	Enhancers	Duodenum Mucosa	Duodenum

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