Variant report

Variant	rs10502092
Chromosome Location	chr11:107374531-107374532
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	chr11:107374400..107376459-chr11:107377850..107380613,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10502093	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs10890735	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]
rs10890736	0.87[EUR][1000 genomes]
rs11212269	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212271	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212274	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212275	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs11212277	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11212278	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs11212279	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12224115	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12225894	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12226565	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs12286285	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs12574614	0.87[EUR][1000 genomes]
rs12576309	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs12577299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2037822	0.87[EUR][1000 genomes]
rs2037823	0.85[EUR][1000 genomes]
rs2037824	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs2037825	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs2037826	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];0.90[ASN][1000 genomes]
rs2037827	0.91[CEU][hapmap];0.80[GIH][hapmap];0.83[TSI][hapmap];0.87[EUR][1000 genomes]
rs3132818	1.00[LWK][hapmap]
rs4754230	0.91[CEU][hapmap];0.83[GIH][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs490312	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs490459	0.91[CEU][hapmap];0.83[GIH][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes]
rs591463	0.80[CEU][hapmap];0.85[GIH][hapmap]
rs61908161	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61908178	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61908179	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61908181	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61908182	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61908194	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61908195	0.87[EUR][1000 genomes]
rs61908196	0.87[EUR][1000 genomes]
rs61908197	0.83[EUR][1000 genomes]
rs61908198	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs650218	0.91[CEU][hapmap];0.83[GIH][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs650669	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs659622	0.82[CHB][hapmap]
rs7109955	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs73002096	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9735734	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	esv2756363	chr11:107189790-107376790	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
rs10502092	ALKBH8	cis	parietal	SCAN
rs10502092	ALKBH8	cis	cerebellum	SCAN

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107364000-107394000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:107364400-107374600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr11:107367200-107375400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr11:107367200-107387400	Weak transcription	Fetal Heart	heart
5	chr11:107367400-107375200	Weak transcription	Brain Angular Gyrus	brain
6	chr11:107369200-107406400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:107370000-107433800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr11:107370800-107374800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr11:107371000-107377000	Weak transcription	NHLF	lung
10	chr11:107371000-107383200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:107371200-107393000	Weak transcription	Brain Substantia Nigra	brain
12	chr11:107371200-107421200	Weak transcription	Right Ventricle	heart
13	chr11:107372000-107374600	ZNF genes & repeats	Primary T cells from cord blood	blood
14	chr11:107372000-107375800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:107372000-107376600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr11:107372000-107376600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:107372000-107376600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:107372000-107376600	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr11:107372000-107435600	Weak transcription	Colonic Mucosa	Colon
20	chr11:107372400-107376400	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr11:107372400-107376600	Strong transcription	Adipose Nuclei	Adipose
22	chr11:107372400-107377000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr11:107372400-107377200	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr11:107372600-107374600	Strong transcription	Colon Smooth Muscle	Colon
25	chr11:107372600-107375400	Strong transcription	Fetal Muscle Leg	muscle
26	chr11:107372600-107375600	Strong transcription	Stomach Smooth Muscle	stomach
27	chr11:107372600-107375800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:107372600-107376800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
29	chr11:107372800-107374800	Weak transcription	Fetal Kidney	kidney
30	chr11:107372800-107375600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr11:107372800-107375600	Weak transcription	Fetal Brain Male	brain
32	chr11:107372800-107389600	Weak transcription	Gastric	stomach
33	chr11:107372800-107409600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:107372800-107434600	Weak transcription	Placenta	Placenta
35	chr11:107373000-107374800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr11:107373000-107375000	Weak transcription	Psoas Muscle	Psoas
37	chr11:107373000-107375400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:107373000-107375600	Weak transcription	Fetal Brain Female	brain
39	chr11:107373000-107375800	Strong transcription	Brain Hippocampus Middle	brain
40	chr11:107373000-107376400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:107373000-107376600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:107373000-107376600	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr11:107373000-107376600	Strong transcription	Liver	Liver
44	chr11:107373000-107377000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr11:107373000-107377000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:107373000-107377200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:107373000-107377600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:107373000-107386200	Weak transcription	Pancreas	Pancrea
49	chr11:107373000-107414800	Weak transcription	Brain Anterior Caudate	brain
50	chr11:107373000-107415200	Weak transcription	Osteobl	bone

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