Variant report

Variant	rs4606022
Chromosome Location	chr8:11354933-11354934
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	chr8:11350709..11353692-chr8:11353928..11355539,2	K562	blood:

Variant related genes	Relation type
ENSG00000136573	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10108511	1.00[CHB][hapmap]
rs1042701	1.00[CHB][hapmap]
rs11250146	1.00[CHB][hapmap]
rs11775640	1.00[ASN][1000 genomes]
rs11775779	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11776834	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11777273	1.00[CHB][hapmap]
rs11778177	1.00[ASN][1000 genomes]
rs11780432	1.00[ASN][1000 genomes]
rs11780980	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11781057	1.00[ASN][1000 genomes]
rs11781400	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11784016	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11784897	1.00[ASN][1000 genomes]
rs11787413	1.00[ASN][1000 genomes]
rs12156238	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13272061	1.00[CHB][hapmap]
rs13280447	1.00[ASN][1000 genomes]
rs13281992	1.00[ASN][1000 genomes]
rs13439415	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13439487	1.00[ASN][1000 genomes]
rs1382567	1.00[CHB][hapmap]
rs1478890	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[LWK][hapmap];0.89[MKK][hapmap];0.87[YRI][hapmap];0.80[AFR][1000 genomes]
rs17744726	1.00[CHB][hapmap]
rs17807523	1.00[ASN][1000 genomes]
rs2127127	1.00[CHB][hapmap]
rs2245232	1.00[CHB][hapmap]
rs2264306	1.00[CHB][hapmap]
rs2264866	1.00[CHB][hapmap]
rs2409776	1.00[ASN][1000 genomes]
rs2409777	1.00[ASN][1000 genomes]
rs2409779	1.00[ASN][1000 genomes]
rs2409784	1.00[CHB][hapmap]
rs2409798	1.00[CHB][hapmap]
rs2618434	1.00[CHB][hapmap]
rs2736342	1.00[CHB][hapmap]
rs28485693	1.00[ASN][1000 genomes]
rs28680779	1.00[ASN][1000 genomes]
rs34281672	1.00[ASN][1000 genomes]
rs34365278	1.00[ASN][1000 genomes]
rs34443092	1.00[ASN][1000 genomes]
rs34906655	1.00[ASN][1000 genomes]
rs35451013	1.00[ASN][1000 genomes]
rs35619722	1.00[ASN][1000 genomes]
rs35822699	1.00[ASN][1000 genomes]
rs36043848	1.00[ASN][1000 genomes]
rs4410870	1.00[CHB][hapmap]
rs4840567	1.00[CHB][hapmap];0.85[LWK][hapmap];0.87[MKK][hapmap]
rs4840570	1.00[ASN][1000 genomes]
rs4841541	1.00[ASN][1000 genomes]
rs4841545	1.00[CHB][hapmap]
rs4841548	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4841560	1.00[ASN][1000 genomes]
rs4841567	1.00[CHB][hapmap]
rs4841571	1.00[ASN][1000 genomes]
rs56302795	1.00[ASN][1000 genomes]
rs57526558	1.00[ASN][1000 genomes]
rs66617246	1.00[ASN][1000 genomes]
rs67390008	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984115	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999912	1.00[CHB][hapmap]
rs73201420	1.00[ASN][1000 genomes]
rs7464263	1.00[CHB][hapmap]
rs7822109	1.00[CHB][hapmap];0.85[YRI][hapmap]
rs7823274	1.00[ASN][1000 genomes]
rs7831369	1.00[ASN][1000 genomes]
rs7831885	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs936546	1.00[ASN][1000 genomes]
rs9650624	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][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	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4606022	FLJ10661	cis	cerebellum	SCAN
rs4606022	PPP1R3B	cis	cerebellum	SCAN
rs4606022	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs4606022	CLDN23	cis	multi-tissue	Pritchard

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11350200-11356600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr8:11350400-11355400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:11352200-11360400	Weak transcription	Spleen	Spleen
4	chr8:11352600-11356200	Flanking Active TSS	Dnd41	blood
5	chr8:11352800-11357600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr8:11353200-11361000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr8:11353400-11357200	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
8	chr8:11353400-11367200	Enhancers	Fetal Thymus	thymus
9	chr8:11353800-11355000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:11353800-11355600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:11353800-11355600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:11353800-11355600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:11353800-11357800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:11354000-11355200	Enhancers	HMEC	breast
15	chr8:11354000-11357200	Enhancers	Primary T cells fromperipheralblood	blood
16	chr8:11354000-11357200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr8:11354000-11357200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:11354000-11357600	Enhancers	Thymus	Thymus
19	chr8:11354200-11355000	Enhancers	HSMM	muscle
20	chr8:11354200-11356000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
21	chr8:11354200-11356000	Enhancers	NHEK	skin
22	chr8:11354200-11357200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr8:11354200-11357400	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr8:11354400-11355400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:11354400-11355400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr8:11354400-11356600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr8:11354400-11356600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr8:11354400-11356600	Weak transcription	NHDF-Ad	bronchial
29	chr8:11354400-11356800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr8:11354400-11356800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr8:11354400-11357200	Weak transcription	NHLF	lung
32	chr8:11354400-11357400	Enhancers	Primary T cells from cord blood	blood
33	chr8:11354400-11357400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr8:11354400-11357400	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr8:11354400-11357600	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr8:11354600-11355400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:11354600-11356200	Genic enhancers	Primary B cells from peripheral blood	blood
38	chr8:11354600-11356600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:11354800-11355200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:11354800-11355400	Enhancers	Primary hematopoietic stem cells	blood
41	chr8:11354800-11355600	Enhancers	Duodenum Mucosa	Duodenum
42	chr8:11354800-11355800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr8:11354800-11356400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr8:11354800-11356400	Weak transcription	Osteobl	bone
45	chr8:11354800-11356600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:11354800-11356600	Weak transcription	HSMMtube	muscle
47	chr8:11354800-11356800	Weak transcription	NH-A	brain

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