Variant report

Variant	rs4841465
Chromosome Location	chr8:10819854-10819855
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:10811750..10814627-chr8:10819721..10822021,2	K562	blood:
2	chr8:10787098..10789727-chr8:10819770..10822042,2	K562	blood:
3	chr8:10811750..10814627-chr8:10819721..10822751,3	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10087923	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10088408	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10089518	0.85[CEU][hapmap]
rs10096381	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10096421	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs10096511	0.92[EUR][1000 genomes]
rs10107145	0.81[CEU][hapmap]
rs10108618	0.82[CEU][hapmap]
rs10109025	0.90[ASN][1000 genomes]
rs10111950	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11250092	0.81[CEU][hapmap]
rs11250093	0.85[CEU][hapmap]
rs11250094	0.83[CEU][hapmap]
rs11250097	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11250098	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11250099	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11783247	0.81[CEU][hapmap]
rs12542037	0.81[CEU][hapmap]
rs12546366	0.85[CEU][hapmap]
rs2001433	0.85[CEU][hapmap]
rs2409689	0.81[CEU][hapmap]
rs2409691	0.82[CEU][hapmap]
rs2409718	0.81[CEU][hapmap]
rs34738102	0.85[EUR][1000 genomes]
rs35792458	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35910832	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4240673	0.85[CEU][hapmap]
rs4314618	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4451266	0.85[EUR][1000 genomes]
rs4451267	0.86[EUR][1000 genomes]
rs4840542	0.81[CEU][hapmap]
rs4841466	0.85[EUR][1000 genomes]
rs4841498	0.81[CEU][hapmap]
rs6601544	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs6601560	0.83[CEU][hapmap]
rs6980856	0.81[CEU][hapmap]
rs6984496	0.85[CEU][hapmap]
rs6985109	0.81[CEU][hapmap]
rs6996943	0.80[CEU][hapmap];0.86[EUR][1000 genomes]
rs7001456	0.82[CHB][hapmap]
rs7010262	0.85[EUR][1000 genomes]
rs7010719	0.86[EUR][1000 genomes]
rs7011106	0.84[EUR][1000 genomes]
rs7011268	0.86[EUR][1000 genomes]
rs7013277	1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs7014861	0.85[EUR][1000 genomes]
rs7016385	0.81[CEU][hapmap]
rs7820860	0.81[CEU][hapmap]
rs7823296	0.85[CEU][hapmap]
rs9657519	0.85[CEU][hapmap]

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	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv521721	chr8:10802102-10836472	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	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
4	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4841465	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs4841465	C8orf13	Cis_1M	lymphoblastoid	RTeQTL
rs4841465	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10815000-10820800	Enhancers	Fetal Muscle Leg	muscle
2	chr8:10817600-10820000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:10817800-10820000	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr8:10817800-10820000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr8:10818000-10820000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr8:10818200-10820000	Enhancers	Primary T cells fromperipheralblood	blood
7	chr8:10818200-10820000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr8:10818200-10820000	Enhancers	Brain Anterior Caudate	brain
9	chr8:10818200-10820200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr8:10818400-10820000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr8:10818400-10822200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr8:10818600-10820000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr8:10818800-10822200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:10819000-10820000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:10819000-10822200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr8:10819000-10822200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:10819000-10822800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:10819200-10820000	Enhancers	GM12878-XiMat	blood
19	chr8:10819400-10822200	Weak transcription	Fetal Brain Male	brain
20	chr8:10819400-10822200	Weak transcription	Fetal Brain Female	brain
21	chr8:10819400-10822400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr8:10819400-10822800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:10819600-10820000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:10819600-10823000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr8:10819800-10820000	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr8:10819800-10820000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr8:10819800-10823000	Weak transcription	Brain Germinal Matrix	brain

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