Variant report

Variant	rs10093849
Chromosome Location	chr8:96003343-96003344
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95979244..95983291-chr8:95999970..96003553,4	MCF-7	breast:
2	chr8:95959267..95964036-chr8:96000948..96003390,4	MCF-7	breast:
3	chr8:95986378..95988844-chr8:96003281..96005168,2	MCF-7	breast:
4	chr8:95998963..96001168-chr8:96001657..96004016,2	MCF-7	breast:
5	chr8:95905943..95909813-chr8:96003263..96006673,5	MCF-7	breast:
6	chr8:96002471..96005226-chr8:96038808..96041557,2	MCF-7	breast:
7	chr8:95959850..95964856-chr8:96001883..96005786,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253528	Chromatin interaction
ENSG00000175305	Chromatin interaction
ENSG00000253878	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000164938	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10087047	0.86[AFR][1000 genomes]
rs10089832	1.00[AMR][1000 genomes]
rs10090286	0.86[AFR][1000 genomes]
rs10090874	0.86[AFR][1000 genomes]
rs10095946	0.86[AFR][1000 genomes]
rs10100231	1.00[AMR][1000 genomes]
rs10216558	1.00[AMR][1000 genomes]
rs10216590	1.00[AMR][1000 genomes]
rs12334340	1.00[AMR][1000 genomes]
rs12335322	0.87[AFR][1000 genomes]
rs13439011	1.00[AFR][1000 genomes]
rs13439012	0.86[AFR][1000 genomes]
rs28370425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28372440	0.87[AFR][1000 genomes]
rs28394682	0.86[AFR][1000 genomes]
rs28421068	1.00[AMR][1000 genomes]
rs28431001	1.00[AMR][1000 genomes]
rs28454923	1.00[AMR][1000 genomes]
rs28504672	1.00[AMR][1000 genomes]
rs28514338	1.00[AFR][1000 genomes]
rs28569283	1.00[AMR][1000 genomes]
rs28581770	0.86[AFR][1000 genomes]
rs28669688	0.87[AFR][1000 genomes]
rs28689859	0.86[AFR][1000 genomes]
rs28713284	1.00[AMR][1000 genomes]
rs28736358	1.00[AMR][1000 genomes]
rs73278574	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv524876	chr8:96000919-96027306	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95977400-96024200	Weak transcription	Aorta	Aorta
2	chr8:95977600-96008800	Weak transcription	Brain Germinal Matrix	brain
3	chr8:95983800-96003600	Weak transcription	Pancreas	Pancrea
4	chr8:95987000-96019600	Weak transcription	Lung	lung
5	chr8:95987200-96018800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:95988000-96004800	Weak transcription	HMEC	breast
7	chr8:95993800-96009200	Weak transcription	Primary T cells from cord blood	blood
8	chr8:95997400-96018000	Weak transcription	HSMMtube	muscle
9	chr8:95997600-96004200	Weak transcription	Fetal Intestine Small	intestine
10	chr8:95997600-96009000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:95997600-96009200	Weak transcription	Thymus	Thymus
12	chr8:95999000-96003400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:96000000-96008800	Weak transcription	Spleen	Spleen
14	chr8:96000400-96003400	Weak transcription	Left Ventricle	heart
15	chr8:96000400-96005000	Weak transcription	Right Atrium	heart
16	chr8:96000400-96009200	Weak transcription	Brain Angular Gyrus	brain
17	chr8:96000600-96009200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:96000800-96005800	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr8:96000800-96009000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:96001000-96003800	Enhancers	K562	blood
21	chr8:96001000-96009600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:96001000-96012000	Weak transcription	Primary B cells from cord blood	blood
23	chr8:96001200-96009200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:96001200-96013600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr8:96001200-96023400	Weak transcription	Liver	Liver
26	chr8:96001800-96003600	Enhancers	Right Ventricle	heart
27	chr8:96002000-96005000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:96002000-96009400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:96002200-96003400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:96002200-96004800	Enhancers	HUVEC	blood vessel
31	chr8:96002400-96003400	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr8:96002400-96003600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:96002400-96003600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr8:96002400-96003800	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr8:96002400-96004000	Enhancers	Dnd41	blood
36	chr8:96002400-96004600	Enhancers	HepG2	liver
37	chr8:96002600-96003400	Enhancers	Fetal Stomach	stomach
38	chr8:96002600-96004200	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr8:96002600-96004400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:96002800-96003400	Enhancers	Duodenum Mucosa	Duodenum
41	chr8:96002800-96003600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:96002800-96003800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr8:96002800-96003800	Enhancers	Adipose Nuclei	Adipose
44	chr8:96002800-96003800	Enhancers	Colon Smooth Muscle	Colon
45	chr8:96002800-96004400	Enhancers	Fetal Heart	heart
46	chr8:96003000-96003400	Enhancers	H9 Cell Line	embryonic stem cell
47	chr8:96003000-96003400	Enhancers	Fetal Lung	lung
48	chr8:96003000-96003400	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr8:96003000-96003400	Flanking Active TSS	A549	lung
50	chr8:96003000-96003600	Enhancers	Fetal Thymus	thymus

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