Variant report

Variant	rs11985603
Chromosome Location	chr8:10918393-10918394
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10905368..10906915-chr8:10917694..10919634,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10096332	0.83[CHB][hapmap]
rs10111974	0.84[JPT][hapmap]
rs11250113	0.92[CHB][hapmap];0.91[MEX][hapmap];0.87[AMR][1000 genomes]
rs11777486	0.85[AMR][1000 genomes]
rs11781155	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13251510	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2409685	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34440473	0.85[AMR][1000 genomes]
rs4326351	0.86[AMR][1000 genomes]
rs4489292	0.85[AMR][1000 genomes]
rs4841483	0.86[AMR][1000 genomes]
rs4841485	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62490742	0.85[AMR][1000 genomes]
rs62490743	0.85[AMR][1000 genomes]
rs6601555	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6987767	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7016414	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7462931	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active 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	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv3443449	chr8:10915967-10918515	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs11985603	FAM167A	cis	lymphoblastoid	seeQTL
rs11985603	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs11985603	TDH	cis	parietal	SCAN
rs11985603	DEFB134	cis	parietal	SCAN
rs11985603	CTSB	cis	cerebellum	SCAN
rs11985603	TDH	cis	cerebellum	SCAN
rs11985603	FXYD2	trans	lymphoblastoid	seeQTL
rs11985603	AF131215.2	cis	Skin Sun Exposed Lower leg	GTEx
rs11985603	MFHAS1	cis	cerebellum	SCAN
rs11985603	DEFB134	cis	cerebellum	SCAN
rs11985603	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10917000-10918400	Enhancers	Brain Hippocampus Middle	brain
2	chr8:10917000-10919400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:10917000-10926000	Weak transcription	Gastric	stomach
4	chr8:10917400-10918400	Enhancers	Brain Substantia Nigra	brain
5	chr8:10917400-10923400	Weak transcription	Psoas Muscle	Psoas
6	chr8:10917400-10923400	Weak transcription	Right Atrium	heart
7	chr8:10917600-10918400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
8	chr8:10917600-10918400	Enhancers	HSMMtube	muscle
9	chr8:10917600-10919400	Weak transcription	Colon Smooth Muscle	Colon
10	chr8:10917600-10921400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr8:10917600-10923600	Weak transcription	Brain Angular Gyrus	brain
12	chr8:10917800-10918400	Enhancers	Brain Cingulate Gyrus	brain
13	chr8:10917800-10924400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:10918000-10919000	Weak transcription	HSMM	muscle
15	chr8:10918000-10919200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:10918000-10920400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:10918000-10925000	Weak transcription	Brain Anterior Caudate	brain
18	chr8:10918200-10918400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:10918200-10918400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
20	chr8:10918200-10919000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr8:10918200-10921200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:10918200-10924200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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