Variant report

Variant	rs6519772
Chromosome Location	chr22:29496402-29496403
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1022482	0.86[EUR][1000 genomes]
rs10483154	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs12628129	0.85[CEU][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes]
rs12628787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12628791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16987014	0.85[CEU][hapmap];0.90[JPT][hapmap]
rs16987051	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs16987052	0.82[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs16987079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16987083	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16987084	0.85[CEU][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35829194	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5752865	0.87[CEU][hapmap]
rs5752869	0.98[EUR][1000 genomes]
rs6519771	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7286554	0.86[EUR][1000 genomes]
rs7286634	0.88[EUR][1000 genomes]
rs7287223	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs7289560	0.85[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs8135301	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs8142545	0.86[EUR][1000 genomes]

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	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29475600-29505600	Weak transcription	Spleen	Spleen
2	chr22:29478800-29498200	Weak transcription	Brain Germinal Matrix	brain
3	chr22:29480600-29498000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr22:29483400-29550200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr22:29486600-29519000	Weak transcription	Fetal Brain Male	brain
6	chr22:29488400-29521200	Weak transcription	Lung	lung
7	chr22:29489600-29499800	Strong transcription	Dnd41	blood
8	chr22:29490000-29501600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr22:29490000-29505200	Weak transcription	Aorta	Aorta
10	chr22:29490000-29514000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr22:29490200-29502800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr22:29490200-29503600	Weak transcription	HMEC	breast
13	chr22:29490400-29499000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr22:29490400-29501400	Weak transcription	Colon Smooth Muscle	Colon
15	chr22:29490400-29508000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr22:29490400-29539800	Weak transcription	Psoas Muscle	Psoas
17	chr22:29491200-29521200	Weak transcription	Colonic Mucosa	Colon
18	chr22:29491600-29522200	Weak transcription	Liver	Liver
19	chr22:29491800-29503600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr22:29491800-29504400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr22:29491800-29505400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr22:29492000-29501000	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr22:29492000-29503800	Weak transcription	NHDF-Ad	bronchial
24	chr22:29493200-29498200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr22:29493200-29499000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr22:29493200-29501400	Weak transcription	Ovary	ovary
27	chr22:29493200-29501600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr22:29493200-29503600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr22:29493200-29504200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr22:29493200-29504400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr22:29493200-29505400	Weak transcription	Right Ventricle	heart
32	chr22:29493200-29511600	Weak transcription	Gastric	stomach
33	chr22:29493200-29521000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr22:29493200-29521200	Weak transcription	Pancreas	Pancrea
35	chr22:29493200-29536400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr22:29493400-29497600	Weak transcription	Brain Anterior Caudate	brain
37	chr22:29493400-29497800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr22:29493400-29498000	Weak transcription	Brain Hippocampus Middle	brain
39	chr22:29493400-29498200	Weak transcription	Brain Angular Gyrus	brain
40	chr22:29493400-29498800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr22:29493400-29499000	Weak transcription	HSMMtube	muscle
42	chr22:29493400-29499200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr22:29493400-29505400	Weak transcription	Small Intestine	intestine
44	chr22:29493400-29516400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr22:29493600-29497200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr22:29493600-29497200	Weak transcription	Fetal Kidney	kidney
47	chr22:29493600-29497600	Weak transcription	Brain Substantia Nigra	brain
48	chr22:29493600-29498200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr22:29493600-29502600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr22:29493800-29498600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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