Variant report

Variant	rs4735521
Chromosome Location	chr8:99008015-99008016
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99000977..99004318-chr8:99007120..99009154,3	K562	blood:
2	chr8:99005306..99006937-chr8:99007959..99009953,2	MCF-7	breast:
3	chr8:99006609..99009034-chr8:99014356..99016713,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10106983	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10955140	0.93[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.98[ASN][1000 genomes]
rs10955143	0.93[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.99[ASN][1000 genomes]
rs10955144	0.99[ASN][1000 genomes]
rs12549307	0.97[ASN][1000 genomes]
rs12676252	0.94[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13270713	0.93[CHB][hapmap];0.90[JPT][hapmap];0.99[ASN][1000 genomes]
rs2034780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36191777	0.86[ASN][1000 genomes]
rs6985434	0.98[ASN][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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv528695	chr8:98960813-99022009	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv1801513	chr8:98996645-99009024	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4735521	MATN2	cis	brain	BrainEAC

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98988000-99011800	Weak transcription	Aorta	Aorta
2	chr8:98992600-99019400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:98994200-99014800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr8:98994600-99008200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr8:98994600-99008400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr8:98994600-99014200	Weak transcription	Ovary	ovary
7	chr8:99002800-99008200	Weak transcription	Right Atrium	heart
8	chr8:99003400-99008400	Weak transcription	Adipose Nuclei	Adipose
9	chr8:99003600-99013200	Weak transcription	Brain Anterior Caudate	brain
10	chr8:99005800-99009200	Enhancers	Osteobl	bone
11	chr8:99006000-99009600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:99006200-99008800	Enhancers	HSMM	muscle
13	chr8:99006400-99008800	Enhancers	Fetal Brain Male	brain
14	chr8:99006400-99010000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:99006600-99008600	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr8:99006600-99009400	Enhancers	NHLF	lung
17	chr8:99006800-99008800	Enhancers	Placenta Amnion	Placenta Amnion
18	chr8:99007000-99009000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:99007000-99009600	Enhancers	Fetal Muscle Leg	muscle
20	chr8:99007000-99014200	Weak transcription	Brain Hippocampus Middle	brain
21	chr8:99007200-99008600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:99007200-99008600	Weak transcription	Brain Angular Gyrus	brain
23	chr8:99007200-99008600	Enhancers	NHEK	skin
24	chr8:99007200-99008800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:99007200-99008800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:99007200-99009000	Enhancers	HSMMtube	muscle
27	chr8:99007400-99008800	Weak transcription	Pancreas	Pancrea
28	chr8:99007400-99009000	Enhancers	Placenta	Placenta
29	chr8:99007400-99009400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:99007400-99014000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr8:99007400-99014000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:99007600-99008600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:99007600-99008600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:99007600-99008600	Enhancers	HMEC	breast
35	chr8:99007800-99008200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr8:99007800-99008800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:99007800-99008800	Enhancers	NH-A	brain
38	chr8:99007800-99009200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:99007800-99010000	Enhancers	NHDF-Ad	bronchial
40	chr8:99008000-99008400	Enhancers	A549	lung
41	chr8:99008000-99009000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:99008000-99009000	Enhancers	Hela-S3	cervix
43	chr8:99008000-99009600	Genic enhancers	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links