Variant report

Variant	rs923499
Chromosome Location	chr8:48435622-48435623
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48435225..48441849-chr8:48646333..48652657,17	MCF-7	breast:
2	chr8:48433892..48441630-chr8:48644198..48652247,18	MCF-7	breast:
3	chr8:48435448..48437603-chr8:48438806..48441568,2	K562	blood:
4	chr8:48425055..48429090-chr8:48432986..48438786,8	MCF-7	breast:
5	chr8:48425858..48428805-chr8:48433583..48436429,2	MCF-7	breast:
6	chr8:48431010..48432979-chr8:48435160..48436961,2	K562	blood:

Variant related genes	Relation type
ENSG00000164808	Chromatin interaction
ENSG00000221869	Chromatin interaction
ENSG00000269924	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10957549	0.96[EUR][1000 genomes]
rs10957644	0.95[EUR][1000 genomes]
rs10958058	0.95[EUR][1000 genomes]
rs1106607	0.94[EUR][1000 genomes]
rs11775628	0.84[ASN][1000 genomes]
rs11778548	0.84[EUR][1000 genomes]
rs11782572	0.92[EUR][1000 genomes]
rs11784823	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12544329	0.95[EUR][1000 genomes]
rs12549996	0.95[EUR][1000 genomes]
rs12675378	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12678110	0.88[EUR][1000 genomes]
rs16928696	0.96[EUR][1000 genomes]
rs1872840	0.87[EUR][1000 genomes]
rs2129617	0.90[EUR][1000 genomes]
rs2129618	0.90[EUR][1000 genomes]
rs2130412	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2130413	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4489323	0.85[EUR][1000 genomes]
rs4536257	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4608108	0.96[EUR][1000 genomes]
rs4873368	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4873395	0.94[EUR][1000 genomes]
rs4873399	0.91[EUR][1000 genomes]
rs4873437	0.98[EUR][1000 genomes]
rs4873507	0.86[EUR][1000 genomes]
rs4873529	0.88[EUR][1000 genomes]
rs4873565	0.89[EUR][1000 genomes]
rs4873619	0.84[EUR][1000 genomes]
rs55941013	0.93[EUR][1000 genomes]
rs56092229	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62539116	0.91[EUR][1000 genomes]
rs62539144	0.88[EUR][1000 genomes]
rs62539147	0.88[EUR][1000 genomes]
rs62539150	0.86[EUR][1000 genomes]
rs6982620	0.96[EUR][1000 genomes]
rs6987043	0.84[EUR][1000 genomes]
rs6989917	0.96[EUR][1000 genomes]
rs876915	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48418400-48436000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:48423800-48436000	Weak transcription	Gastric	stomach
3	chr8:48423800-48436800	Weak transcription	Thymus	Thymus
4	chr8:48424400-48438800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:48426800-48436400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:48427200-48436000	Weak transcription	Aorta	Aorta
7	chr8:48427800-48435800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr8:48427800-48437000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:48428000-48435800	Weak transcription	HSMMtube	muscle
10	chr8:48428200-48435800	Weak transcription	Brain Angular Gyrus	brain
11	chr8:48428200-48437400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr8:48428200-48439800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr8:48428600-48435800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:48432600-48436800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:48432600-48437000	Enhancers	Adipose Nuclei	Adipose
16	chr8:48432600-48439800	Enhancers	Fetal Lung	lung
17	chr8:48432800-48437000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:48433400-48436800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr8:48433400-48437200	Enhancers	Left Ventricle	heart
20	chr8:48433600-48435800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr8:48433600-48435800	Weak transcription	Fetal Stomach	stomach
22	chr8:48433600-48435800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr8:48433800-48435800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:48433800-48436000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:48433800-48436200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:48434000-48455400	Weak transcription	Primary T cells from cord blood	blood
27	chr8:48434200-48435800	Weak transcription	Psoas Muscle	Psoas
28	chr8:48434200-48439600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr8:48434200-48440000	Enhancers	Fetal Muscle Leg	muscle
30	chr8:48434400-48436000	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr8:48434400-48437000	Enhancers	Right Atrium	heart
32	chr8:48434400-48437600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr8:48434400-48439800	Enhancers	Placenta	Placenta
34	chr8:48434400-48439800	Enhancers	Stomach Mucosa	stomach
35	chr8:48434400-48440200	Enhancers	Duodenum Mucosa	Duodenum
36	chr8:48434400-48444400	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr8:48434600-48435800	Weak transcription	Colon Smooth Muscle	Colon
38	chr8:48434600-48436000	Enhancers	Liver	Liver
39	chr8:48434600-48437000	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr8:48434600-48437200	Enhancers	Lung	lung
41	chr8:48434600-48440000	Enhancers	Brain Anterior Caudate	brain
42	chr8:48434600-48440000	Enhancers	Brain Hippocampus Middle	brain
43	chr8:48434600-48440400	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr8:48434800-48435800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr8:48434800-48435800	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr8:48434800-48436000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:48434800-48436000	Enhancers	K562	blood
48	chr8:48434800-48436400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr8:48434800-48436400	Enhancers	Esophagus	oesophagus
50	chr8:48434800-48436800	Enhancers	HUES48 Cell Line	embryonic stem cell

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