Variant report

Variant	rs6507816
Chromosome Location	chr18:45646332-45646333
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10853562	0.90[EUR][1000 genomes]
rs11082653	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11082655	0.83[EUR][1000 genomes]
rs4289063	0.81[EUR][1000 genomes]
rs4940274	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6417101	0.82[EUR][1000 genomes]
rs6507812	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6507817	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8085875	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8093876	0.92[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909616	chr18:45467806-45844500	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6507816	SMAD7	cis	cerebellar cortex	BrainEAC

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45634200-45650400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr18:45634400-45650400	Weak transcription	Hela-S3	cervix
3	chr18:45637200-45647800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr18:45637200-45648800	Weak transcription	Stomach Mucosa	stomach
5	chr18:45637200-45649400	Weak transcription	Colonic Mucosa	Colon
6	chr18:45637600-45647200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr18:45637600-45648200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr18:45638200-45649400	Weak transcription	Fetal Stomach	stomach
9	chr18:45640200-45649000	Weak transcription	Spleen	Spleen
10	chr18:45640200-45649200	Weak transcription	Ovary	ovary
11	chr18:45640400-45649600	Weak transcription	Lung	lung
12	chr18:45640400-45649600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr18:45640600-45648200	Weak transcription	Gastric	stomach
14	chr18:45642400-45657200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr18:45643200-45649000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr18:45645400-45646400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr18:45645400-45646600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr18:45645400-45646600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr18:45645400-45646600	Enhancers	HMEC	breast
20	chr18:45645400-45646600	Enhancers	NHEK	skin
21	chr18:45645800-45646400	Enhancers	Placenta	Placenta
22	chr18:45645800-45649600	Weak transcription	Fetal Kidney	kidney
23	chr18:45646000-45648400	Genic enhancers	Esophagus	oesophagus
24	chr18:45646200-45649800	Weak transcription	Fetal Intestine Small	intestine
25	chr18:45646200-45662000	Weak transcription	Right Atrium	heart

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