Variant report

Variant	rs13250781
Chromosome Location	chr8:8793343-8793344
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8792434..8796663-chr8:8799601..8802595,4	K562	blood:
2	chr8:8791750..8794485-chr8:8798173..8800628,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ERI1-6	chr8:8793078-8793689	NONHSAT124895

Extended variants
information (count: 63 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10087416	1.00[CHB][hapmap]
rs10091588	1.00[ASN][1000 genomes]
rs10096850	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1036082	1.00[ASN][1000 genomes]
rs11774244	1.00[ASN][1000 genomes]
rs11775788	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11779660	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11779804	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780338	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11780774	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781203	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13277114	1.00[ASN][1000 genomes]
rs1530484	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17646197	1.00[CHB][hapmap]
rs17700611	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17701980	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs28520356	1.00[ASN][1000 genomes]
rs28572014	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34293316	1.00[ASN][1000 genomes]
rs36056437	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4840376	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56349323	1.00[ASN][1000 genomes]
rs56400435	1.00[ASN][1000 genomes]
rs57280925	1.00[ASN][1000 genomes]
rs59041878	1.00[ASN][1000 genomes]
rs59257214	1.00[ASN][1000 genomes]
rs60551984	1.00[ASN][1000 genomes]
rs61397430	1.00[ASN][1000 genomes]
rs61730232	1.00[ASN][1000 genomes]
rs62492947	1.00[ASN][1000 genomes]
rs62495491	1.00[ASN][1000 genomes]
rs62495539	1.00[ASN][1000 genomes]
rs6601282	1.00[CHB][hapmap]
rs6981610	1.00[CHB][hapmap]
rs6981745	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982619	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6987569	1.00[ASN][1000 genomes]
rs6996374	1.00[ASN][1000 genomes]
rs7000323	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7001187	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73518330	1.00[ASN][1000 genomes]
rs73518392	1.00[ASN][1000 genomes]
rs7357482	1.00[ASN][1000 genomes]
rs73662247	1.00[ASN][1000 genomes]
rs7822129	1.00[ASN][1000 genomes]
rs7826478	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7828944	1.00[ASN][1000 genomes]
rs7830266	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7843024	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843154	1.00[ASN][1000 genomes]
rs7843369	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843789	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7846007	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs895253	1.00[ASN][1000 genomes]
rs9329175	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9329176	1.00[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	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1017388	chr8:8759494-8826714	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1017238	chr8:8760138-8831662	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1026913	chr8:8773659-8838256	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13250781	C8orf5	Cis_chr	lymphoblastoid	RTeQTL
rs13250781	THEX1	Cis_1M	lymphoblastoid	RTeQTL
rs13250781	CTA-398F10.2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8779600-8799800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr8:8779800-8793600	Weak transcription	Right Ventricle	heart
3	chr8:8780600-8799800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr8:8781000-8799800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr8:8781200-8815200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr8:8781600-8816600	Weak transcription	Primary T cells from cord blood	blood
7	chr8:8782400-8799800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr8:8784800-8795800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr8:8786200-8820600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr8:8788200-8796400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:8791400-8794000	Enhancers	Placenta	Placenta
12	chr8:8791600-8799600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr8:8792400-8800200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr8:8792600-8793400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:8792600-8793400	Enhancers	Osteobl	bone
16	chr8:8792600-8793600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:8792600-8793600	Enhancers	Brain Hippocampus Middle	brain
18	chr8:8792600-8793800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:8792600-8798600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:8792800-8793400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:8792800-8793400	Enhancers	Liver	Liver
22	chr8:8792800-8793400	Enhancers	Right Atrium	heart
23	chr8:8792800-8793400	Enhancers	HUVEC	blood vessel
24	chr8:8792800-8793600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
25	chr8:8792800-8793800	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr8:8792800-8794800	Enhancers	K562	blood
27	chr8:8793000-8793400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:8793000-8793400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr8:8793000-8793400	Enhancers	Thymus	Thymus
30	chr8:8793000-8793800	Enhancers	Fetal Brain Male	brain
31	chr8:8793000-8794200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr8:8793000-8802600	Weak transcription	Small Intestine	intestine
33	chr8:8793200-8793400	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:8793200-8793400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:8793200-8793800	Enhancers	Fetal Brain Female	brain
36	chr8:8793200-8794000	Enhancers	Adipose Nuclei	Adipose
37	chr8:8793200-8795400	Weak transcription	Fetal Thymus	thymus
38	chr8:8793200-8795600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr8:8793200-8796200	Weak transcription	Esophagus	oesophagus
40	chr8:8793200-8796200	Weak transcription	Left Ventricle	heart
41	chr8:8793200-8797000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr8:8793200-8797400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links