Variant report

Variant	rs4692018
Chromosome Location	chr4:26980719-26980720
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	chr4:26980677..26982760-chr4:26983877..26985383,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10028164	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10031905	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1035075	1.00[EUR][1000 genomes]
rs1860981	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2192241	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2309497	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28489605	1.00[EUR][1000 genomes]
rs4129747	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4140681	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4599399	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4692016	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4692017	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4692138	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55646519	1.00[EUR][1000 genomes]
rs56001106	1.00[EUR][1000 genomes]
rs56810203	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57668778	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57810647	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59530500	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59678983	1.00[EUR][1000 genomes]
rs61084398	1.00[EUR][1000 genomes]
rs6448490	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6841079	1.00[EUR][1000 genomes]
rs6858361	1.00[EUR][1000 genomes]
rs73116642	1.00[EUR][1000 genomes]
rs73116643	1.00[EUR][1000 genomes]
rs73116645	1.00[EUR][1000 genomes]
rs73116652	1.00[EUR][1000 genomes]
rs73116653	1.00[EUR][1000 genomes]
rs73116655	1.00[EUR][1000 genomes]
rs73116657	1.00[EUR][1000 genomes]
rs73116660	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116665	1.00[EUR][1000 genomes]
rs73116670	1.00[EUR][1000 genomes]
rs73116672	1.00[EUR][1000 genomes]
rs73116675	1.00[EUR][1000 genomes]
rs7670520	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7688601	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs887792	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs887794	1.00[ASW][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9790760	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv470021	chr4:26721578-27067027	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv461312	chr4:26844674-27078376	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv593872	chr4:26844674-27078376	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1000568	chr4:26886920-27049554	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4692018	HSPA6	trans	brain	seeQTL
rs4692018	OCIAD2	trans	brain	seeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26961800-26994000	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr4:26963600-26994200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:26966600-26986400	Weak transcription	HSMM	muscle
4	chr4:26966600-26989000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:26966600-26994600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:26966800-26985200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:26966800-26986400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr4:26967600-26986400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:26975800-27003200	Weak transcription	Aorta	Aorta
10	chr4:26977200-26980800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr4:26977800-26988600	Weak transcription	Fetal Thymus	thymus
12	chr4:26978000-26987400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:26978000-26994600	Weak transcription	Fetal Stomach	stomach
14	chr4:26978200-26984600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr4:26978400-27019200	Weak transcription	Fetal Intestine Small	intestine
16	chr4:26978800-26988600	Weak transcription	Fetal Muscle Leg	muscle
17	chr4:26979000-26981200	Enhancers	Primary T cells from cord blood	blood
18	chr4:26979400-26980800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr4:26979400-26981200	Enhancers	Primary B cells from peripheral blood	blood
20	chr4:26979600-26988600	Weak transcription	Thymus	Thymus
21	chr4:26980000-26981200	Enhancers	GM12878-XiMat	blood
22	chr4:26980000-26981400	Enhancers	Primary B cells from cord blood	blood
23	chr4:26980400-26984200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:26980400-26984400	Weak transcription	Pancreas	Pancrea
25	chr4:26980400-26988600	Weak transcription	Ovary	ovary
26	chr4:26980400-26994800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr4:26980400-27019400	Weak transcription	Left Ventricle	heart
28	chr4:26980600-26982600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr4:26980600-26983200	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr4:26980600-26984600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr4:26980600-26984800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr4:26980600-26984800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr4:26980600-26986000	Weak transcription	Psoas Muscle	Psoas
34	chr4:26980600-26986600	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr4:26980600-26986600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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