Variant report

Variant	rs9620779
Chromosome Location	chr22:28644379-28644380
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	chr22:28643886..28646105-chr22:28647458..28649434,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10154425	1.00[ASN][1000 genomes]
rs10212036	1.00[ASN][1000 genomes]
rs10212074	1.00[ASN][1000 genomes]
rs10212083	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483151	0.91[CEU][hapmap]
rs12166023	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs12166158	1.00[ASN][1000 genomes]
rs12166253	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166719	0.91[YRI][hapmap]
rs12166740	0.81[CEU][hapmap]
rs12166912	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs12167735	0.81[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12168054	1.00[ASN][1000 genomes]
rs12168180	0.82[CEU][hapmap]
rs12168652	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12168708	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12168851	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12170022	1.00[ASN][1000 genomes]
rs12170637	0.91[CEU][hapmap]
rs1297607	0.91[CEU][hapmap]
rs134194	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134197	0.91[CEU][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134488	0.91[CEU][hapmap]
rs134506	0.91[CEU][hapmap]
rs134514	0.91[CEU][hapmap]
rs134524	0.91[CEU][hapmap]
rs134547	0.91[CEU][hapmap]
rs16985976	1.00[ASN][1000 genomes]
rs16986037	0.81[CEU][hapmap]
rs16986077	0.81[CEU][hapmap];1.00[ASN][1000 genomes]
rs16986398	0.91[CEU][hapmap]
rs16987005	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs17407024	1.00[ASN][1000 genomes]
rs17487463	0.91[CEU][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2345717	0.87[AMR][1000 genomes]
rs28579300	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55846737	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55856549	1.00[ASN][1000 genomes]
rs56233401	1.00[ASN][1000 genomes]
rs56391942	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57686964	1.00[ASN][1000 genomes]
rs58823697	1.00[ASN][1000 genomes]
rs58936636	0.86[AFR][1000 genomes]
rs73437900	0.81[EUR][1000 genomes]
rs73439811	0.81[EUR][1000 genomes]
rs738200	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs73880391	1.00[ASN][1000 genomes]
rs73880393	1.00[ASN][1000 genomes]
rs73880395	1.00[ASN][1000 genomes]
rs73882704	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73882705	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73882709	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73882711	0.86[AFR][1000 genomes]
rs73882720	0.81[AFR][1000 genomes]
rs73882721	0.81[AFR][1000 genomes]
rs761322	1.00[ASN][1000 genomes]
rs761323	1.00[ASN][1000 genomes]
rs9306452	1.00[ASN][1000 genomes]
rs9620768	0.81[CEU][hapmap]
rs9620769	0.81[CEU][hapmap];1.00[ASN][1000 genomes]
rs9620770	1.00[ASN][1000 genomes]
rs9620771	1.00[ASN][1000 genomes]
rs9620778	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625394	1.00[ASN][1000 genomes]
rs9625395	0.82[CEU][hapmap]
rs9625405	1.00[ASN][1000 genomes]
rs9625406	1.00[ASN][1000 genomes]
rs9625407	1.00[ASN][1000 genomes]
rs9625408	1.00[ASN][1000 genomes]
rs9625409	1.00[ASN][1000 genomes]
rs9625410	1.00[ASN][1000 genomes]
rs9625413	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs9625416	0.82[CEU][hapmap]
rs9625417	0.82[CEU][hapmap]
rs9625418	1.00[ASN][1000 genomes]
rs9625421	1.00[ASN][1000 genomes]
rs9625425	0.82[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9625427	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs9625433	0.91[CEU][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625437	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625438	0.91[CEU][hapmap]
rs9625440	0.91[CEU][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625447	0.91[CEU][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9625467	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs9625475	1.00[CEU][hapmap]
rs988893	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv459866	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv588879	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28618400-28662200	Weak transcription	Pancreas	Pancrea
2	chr22:28635600-28650800	Weak transcription	Dnd41	blood
3	chr22:28639400-28645800	Enhancers	Fetal Heart	heart
4	chr22:28640800-28646200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr22:28641000-28645600	Weak transcription	Aorta	Aorta
6	chr22:28641000-28646800	Weak transcription	Small Intestine	intestine
7	chr22:28641000-28655800	Weak transcription	Fetal Kidney	kidney
8	chr22:28641200-28648400	Weak transcription	Fetal Brain Male	brain
9	chr22:28641600-28645000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr22:28641800-28644600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr22:28641800-28644600	Weak transcription	Fetal Intestine Small	intestine
12	chr22:28642000-28648200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr22:28642400-28644400	Enhancers	Fetal Stomach	stomach
14	chr22:28642400-28646800	Enhancers	K562	blood
15	chr22:28642400-28649400	Weak transcription	Fetal Intestine Large	intestine
16	chr22:28642600-28644400	Enhancers	Psoas Muscle	Psoas
17	chr22:28642600-28644600	Weak transcription	A549	lung
18	chr22:28642800-28644600	Enhancers	Brain Substantia Nigra	brain
19	chr22:28642800-28645000	Enhancers	Brain Anterior Caudate	brain
20	chr22:28642800-28647400	Weak transcription	HepG2	liver
21	chr22:28643000-28644400	Enhancers	Fetal Muscle Leg	muscle
22	chr22:28643000-28644400	Enhancers	Gastric	stomach
23	chr22:28643000-28645200	Enhancers	Brain Hippocampus Middle	brain
24	chr22:28643200-28644400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr22:28643200-28644400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr22:28643200-28644400	Enhancers	Fetal Lung	lung
27	chr22:28643200-28644400	Enhancers	Right Ventricle	heart
28	chr22:28643200-28644600	Enhancers	Brain Angular Gyrus	brain
29	chr22:28643200-28644800	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr22:28643200-28645200	Weak transcription	HSMM	muscle
31	chr22:28643200-28646200	Weak transcription	Primary T cells from cord blood	blood
32	chr22:28643400-28644400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
33	chr22:28643400-28644600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr22:28643400-28644600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr22:28643400-28646400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:28643400-28649400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr22:28643400-28651800	Weak transcription	HSMMtube	muscle
38	chr22:28643600-28644600	Enhancers	NHDF-Ad	bronchial
39	chr22:28643600-28644800	Weak transcription	Adipose Nuclei	Adipose
40	chr22:28643600-28645600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr22:28643600-28646400	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr22:28643600-28652400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr22:28643600-28652600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr22:28643800-28644400	Enhancers	Right Atrium	heart
45	chr22:28643800-28644600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
46	chr22:28643800-28645600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr22:28644000-28644800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr22:28644000-28645600	Weak transcription	NH-A	brain
49	chr22:28644000-28645800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr22:28644000-28646000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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