Variant report

Variant	rs10890735
Chromosome Location	chr11:107404466-107404467
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:107402012..107404906-chr11:107408534..107410570,3	K562	blood:
2	chr11:107402166..107405031-chr11:107412950..107414876,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10502092	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10502093	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs10890736	0.88[EUR][1000 genomes]
rs11212269	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11212271	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11212274	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11212275	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs11212277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212278	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs11212279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12224115	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12225894	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12226565	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs12286285	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs12574614	0.89[EUR][1000 genomes]
rs12576309	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs12577299	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2037822	0.88[EUR][1000 genomes]
rs2037823	0.85[EUR][1000 genomes]
rs2037824	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs2037825	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs2037826	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2037827	0.91[CEU][hapmap];0.90[GIH][hapmap];0.86[TSI][hapmap];0.89[EUR][1000 genomes]
rs2141387	0.81[EUR][1000 genomes]
rs3132818	1.00[LWK][hapmap]
rs4754230	0.91[CEU][hapmap];0.93[GIH][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs490312	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs490459	0.91[CEU][hapmap];0.93[GIH][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs574014	0.80[CHB][hapmap]
rs591463	0.80[CEU][hapmap]
rs61908161	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61908178	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61908179	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61908181	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61908182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61908194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61908195	0.89[EUR][1000 genomes]
rs61908196	0.89[EUR][1000 genomes]
rs61908197	0.85[EUR][1000 genomes]
rs61908198	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs650218	0.91[CEU][hapmap];0.93[GIH][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs650669	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs659622	0.87[CHB][hapmap]
rs7109955	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs73002096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9735734	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898365	chr11:106944975-107430300	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv898366	chr11:106944975-107433835	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv898367	chr11:106944975-107443420	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv898369	chr11:106958304-107443420	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv898370	chr11:107027991-107430300	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv898372	chr11:107049968-107433835	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1038368	chr11:107116577-107664181	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv541163	chr11:107116577-107664181	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv898373	chr11:107124903-107433835	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv556376	chr11:107250851-107486598	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv898376	chr11:107299631-107443420	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10890735	ALKBH8	cis	parietal	SCAN
rs10890735	ALKBH8	cis	cerebellum	SCAN

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107369200-107406400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:107370000-107433800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr11:107371200-107421200	Weak transcription	Right Ventricle	heart
4	chr11:107372000-107435600	Weak transcription	Colonic Mucosa	Colon
5	chr11:107372800-107409600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:107372800-107434600	Weak transcription	Placenta	Placenta
7	chr11:107373000-107414800	Weak transcription	Brain Anterior Caudate	brain
8	chr11:107373000-107415200	Weak transcription	Osteobl	bone
9	chr11:107373000-107421000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:107373000-107421400	Weak transcription	Brain Germinal Matrix	brain
11	chr11:107373200-107405800	Weak transcription	NHEK	skin
12	chr11:107373200-107407400	Weak transcription	Esophagus	oesophagus
13	chr11:107373200-107421000	Weak transcription	Spleen	Spleen
14	chr11:107373200-107423200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr11:107373400-107407400	Weak transcription	GM12878-XiMat	blood
16	chr11:107373800-107409200	Weak transcription	HepG2	liver
17	chr11:107375600-107414600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr11:107375800-107407000	Weak transcription	Brain Hippocampus Middle	brain
19	chr11:107376000-107407400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr11:107376000-107415600	Weak transcription	Brain Angular Gyrus	brain
21	chr11:107376000-107421000	Weak transcription	Thymus	Thymus
22	chr11:107376600-107415400	Weak transcription	Ovary	ovary
23	chr11:107376600-107434600	Weak transcription	Lung	lung
24	chr11:107376800-107406200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr11:107376800-107406400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr11:107376800-107421000	Weak transcription	Aorta	Aorta
27	chr11:107376800-107434600	Weak transcription	Psoas Muscle	Psoas
28	chr11:107377000-107432600	Weak transcription	K562	blood
29	chr11:107378600-107433800	Weak transcription	Fetal Kidney	kidney
30	chr11:107381400-107414800	Weak transcription	NH-A	brain
31	chr11:107381800-107406000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr11:107381800-107415600	Weak transcription	NHDF-Ad	bronchial
33	chr11:107382000-107434200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr11:107384600-107406400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr11:107387200-107406400	Weak transcription	HSMMtube	muscle
36	chr11:107389800-107406400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:107389800-107407400	Weak transcription	Gastric	stomach
38	chr11:107389800-107434600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr11:107389800-107435600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:107390000-107413200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr11:107390000-107421000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:107390000-107423000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:107390200-107406400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:107390600-107406000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:107390600-107418800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr11:107391400-107414600	Weak transcription	HUVEC	blood vessel
47	chr11:107392400-107417400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr11:107393200-107406400	Weak transcription	Fetal Intestine Large	intestine
49	chr11:107393400-107406000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:107393400-107406400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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