Variant report

Variant	rs138680
Chromosome Location	chr22:28413863-28413864
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10154425	0.89[CEU][hapmap]
rs10483141	1.00[CHB][hapmap]
rs12166077	0.89[CEU][hapmap]
rs12167128	0.86[YRI][hapmap]
rs12168054	0.89[CEU][hapmap]
rs12170953	0.89[CEU][hapmap]
rs135641	1.00[CHB][hapmap]
rs135642	1.00[CHB][hapmap]
rs135644	1.00[CHB][hapmap]
rs135645	1.00[CHB][hapmap]
rs135649	1.00[CHB][hapmap]
rs138645	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138646	0.81[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138648	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs138651	0.86[CEU][hapmap]
rs138652	0.93[YRI][hapmap]
rs138653	0.89[CEU][hapmap]
rs138654	0.89[CEU][hapmap]
rs138656	0.89[CEU][hapmap]
rs138658	0.89[CEU][hapmap]
rs138660	0.89[CEU][hapmap]
rs138664	0.89[CEU][hapmap]
rs138665	0.89[CEU][hapmap]
rs138667	0.89[CEU][hapmap]
rs138671	0.89[CEU][hapmap]
rs138676	1.00[CEU][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs138679	1.00[CEU][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1569700	1.00[CHB][hapmap]
rs17407024	0.88[CEU][hapmap]
rs17483887	0.89[CEU][hapmap]
rs17484337	0.89[CEU][hapmap]
rs2038287	1.00[CHB][hapmap]
rs2143420	1.00[CHB][hapmap]
rs2345011	1.00[CHB][hapmap]
rs2745562	0.87[CEU][hapmap]
rs470101	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs470102	0.89[CEU][hapmap]
rs470103	0.89[CEU][hapmap]
rs7285440	1.00[CHB][hapmap]
rs7286519	0.82[AFR][1000 genomes]
rs73880371	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620762	0.89[CEU][hapmap];0.85[AFR][1000 genomes]
rs9620764	0.89[CEU][hapmap]
rs9625387	0.89[CEU][hapmap]
rs9625390	0.89[CEU][hapmap]
rs9625391	0.89[CEU][hapmap]
rs9625408	0.89[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28386200-28416000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr22:28390000-28414600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr22:28390400-28416200	Weak transcription	Colonic Mucosa	Colon
4	chr22:28394800-28414000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr22:28395000-28416400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr22:28396000-28422400	Weak transcription	Primary T cells from cord blood	blood
7	chr22:28397200-28423000	Weak transcription	HepG2	liver
8	chr22:28399400-28425800	Weak transcription	Liver	Liver
9	chr22:28405200-28414000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr22:28405400-28415000	Weak transcription	HSMM	muscle
11	chr22:28405400-28416200	Weak transcription	NHDF-Ad	bronchial
12	chr22:28405400-28416200	Weak transcription	NHLF	lung
13	chr22:28405400-28416400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr22:28405400-28416400	Weak transcription	Fetal Kidney	kidney
15	chr22:28405600-28414800	Weak transcription	HSMMtube	muscle
16	chr22:28405800-28414000	Weak transcription	Psoas Muscle	Psoas
17	chr22:28405800-28416000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr22:28405800-28416200	Weak transcription	Left Ventricle	heart
19	chr22:28408800-28416200	Genic enhancers	Fetal Muscle Trunk	muscle
20	chr22:28409000-28428000	Genic enhancers	Fetal Muscle Leg	muscle
21	chr22:28409200-28416200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr22:28409400-28415800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr22:28409400-28430400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr22:28409600-28416000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr22:28410000-28414400	Enhancers	Fetal Brain Male	brain
26	chr22:28410000-28415000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr22:28410000-28416000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr22:28410200-28415200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr22:28410200-28415800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr22:28410200-28416000	Weak transcription	Brain Substantia Nigra	brain
31	chr22:28410200-28423000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr22:28410200-28423400	Weak transcription	Gastric	stomach
33	chr22:28410400-28415000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr22:28410400-28415800	Weak transcription	Brain Angular Gyrus	brain
35	chr22:28410400-28416200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr22:28410400-28424200	Weak transcription	Aorta	Aorta
37	chr22:28411000-28414000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr22:28411000-28416000	Weak transcription	Ovary	ovary
39	chr22:28411000-28423600	Weak transcription	Fetal Intestine Large	intestine
40	chr22:28411400-28414600	Weak transcription	Spleen	Spleen
41	chr22:28411800-28414200	Enhancers	Fetal Heart	heart
42	chr22:28411800-28414400	Weak transcription	Dnd41	blood
43	chr22:28411800-28418200	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr22:28411800-28418400	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr22:28412000-28414800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr22:28412000-28416000	Strong transcription	Fetal Intestine Small	intestine
47	chr22:28412000-28418200	Enhancers	Right Ventricle	heart
48	chr22:28412200-28414200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr22:28412400-28415000	Weak transcription	Fetal Thymus	thymus
50	chr22:28412400-28416000	Weak transcription	Colon Smooth Muscle	Colon

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