Variant report

Variant	rs4841495
Chromosome Location	chr8:10958824-10958825
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10087081	0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs10105315	0.96[CEU][hapmap];0.81[AMR][1000 genomes]
rs10105377	0.89[ASN][1000 genomes]
rs10106207	0.85[CEU][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes]
rs10108618	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10113808	0.96[CEU][hapmap]
rs10503415	0.82[JPT][hapmap]
rs1057626	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11250117	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs11773990	0.86[CEU][hapmap]
rs11991118	0.96[CEU][hapmap]
rs17723229	0.81[AMR][1000 genomes]
rs17724467	0.86[CEU][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2001329	0.81[CEU][hapmap];0.83[AMR][1000 genomes]
rs2001433	0.85[CEU][hapmap]
rs2409689	0.85[CEU][hapmap]
rs2409691	1.00[CEU][hapmap]
rs2409698	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2409701	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2409710	0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2409713	0.81[ASN][1000 genomes]
rs2409714	0.81[ASN][1000 genomes]
rs2409715	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs2409716	0.81[ASN][1000 genomes]
rs2409717	0.81[ASN][1000 genomes]
rs2409718	0.85[CEU][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28417109	0.89[ASN][1000 genomes]
rs2898257	0.86[CEU][hapmap]
rs2898260	0.93[CEU][hapmap]
rs3021500	0.82[CEU][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34069332	0.87[EUR][1000 genomes]
rs34772085	0.89[ASN][1000 genomes]
rs4333549	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4523214	0.93[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4840542	0.89[CEU][hapmap];0.85[AMR][1000 genomes]
rs4840544	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4840549	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs4840551	1.00[YRI][hapmap]
rs4841489	0.86[CEU][hapmap]
rs4841490	0.89[CEU][hapmap]
rs4841501	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs4841503	0.81[AMR][1000 genomes]
rs4841504	0.81[CEU][hapmap]
rs4841507	0.82[JPT][hapmap]
rs60921132	0.92[ASN][1000 genomes]
rs6601559	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6601560	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6601561	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs6601562	0.93[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6601564	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6980856	0.85[CEU][hapmap];0.82[AMR][1000 genomes]
rs6982381	0.82[AMR][1000 genomes]
rs6986032	0.84[JPT][hapmap]
rs6991930	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6995204	0.84[ASN][1000 genomes]
rs6996846	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7004825	1.00[JPT][hapmap]
rs7011756	0.82[CEU][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7460507	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs7813802	0.82[JPT][hapmap]
rs7819412	0.82[JPT][hapmap]
rs7820860	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7823349	0.81[ASN][1000 genomes]
rs7835318	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9657519	0.89[CEU][hapmap];0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv1815171	chr8:10940039-11128712	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1025426	chr8:10942929-11037903	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1026331	chr8:10955941-11046394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4841495	AF131215.9	cis	Nerve Tibial	GTEx
rs4841495	AF131215.2	cis	Nerve Tibial	GTEx
rs4841495	C8orf5	cis	uninvolved skin	skin_eQTL
rs4841495	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs4841495	AF131215.2	cis	Stomach	GTEx
rs4841495	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10950600-10965000	Weak transcription	Gastric	stomach
2	chr8:10954400-10959200	Weak transcription	Pancreas	Pancrea
3	chr8:10955200-10968000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:10956800-10964800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:10957200-10964800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr8:10958200-10965000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr8:10958200-10967200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr8:10958200-10970200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:10958400-10965200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:10958400-10974800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr8:10958600-10964800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr8:10958600-10965000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr8:10958600-10971200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr8:10958600-10971200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:10958800-10967400	Weak transcription	Primary T cells fromperipheralblood	blood

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