Variant report

Variant	rs5997487
Chromosome Location	chr22:29903207-29903208
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2348471	0.80[ASN][1000 genomes]
rs5752925	0.94[ASN][1000 genomes]
rs5752926	0.80[ASN][1000 genomes]
rs5752927	0.80[ASN][1000 genomes]
rs5752928	0.80[ASN][1000 genomes]
rs5752932	0.82[ASN][1000 genomes]
rs5763272	0.80[ASN][1000 genomes]
rs5763273	0.80[ASN][1000 genomes]
rs5763282	0.80[ASN][1000 genomes]
rs5763284	0.82[ASN][1000 genomes]
rs5763285	0.82[ASN][1000 genomes]
rs5763288	0.85[ASN][1000 genomes]
rs5997485	0.85[ASN][1000 genomes]
rs6006167	0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6006176	0.85[ASN][1000 genomes]
rs6006177	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1058156	chr22:29772043-30024013	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv544675	chr22:29772043-30024013	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1062373	chr22:29826745-30092448	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv544676	chr22:29826745-30092448	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv834172	chr22:29899036-30057948	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29883800-29904000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr22:29885600-29904000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:29886000-29903400	Weak transcription	Gastric	stomach
4	chr22:29891000-29903600	Weak transcription	Spleen	Spleen
5	chr22:29891000-29904000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr22:29891600-29907400	Weak transcription	Fetal Brain Male	brain
7	chr22:29891800-29903600	Weak transcription	Small Intestine	intestine
8	chr22:29894600-29914800	Weak transcription	Hela-S3	cervix
9	chr22:29895800-29916800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr22:29896800-29904000	Weak transcription	HepG2	liver
11	chr22:29896800-29904000	Weak transcription	HMEC	breast
12	chr22:29897600-29934600	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr22:29898200-29947400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:29898400-29911400	Weak transcription	Fetal Kidney	kidney
15	chr22:29899800-29909600	Strong transcription	Primary T cells from cord blood	blood
16	chr22:29900200-29903600	Weak transcription	Brain Angular Gyrus	brain
17	chr22:29900200-29904000	Weak transcription	Psoas Muscle	Psoas
18	chr22:29900400-29903400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr22:29900400-29903800	Weak transcription	K562	blood
20	chr22:29900400-29904600	Strong transcription	A549	lung
21	chr22:29900400-29913200	Weak transcription	Fetal Heart	heart
22	chr22:29900400-29929000	Strong transcription	Fetal Stomach	stomach
23	chr22:29900400-29949200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr22:29900600-29918000	Strong transcription	Fetal Thymus	thymus
25	chr22:29900800-29907200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr22:29900800-29908400	Strong transcription	Brain Germinal Matrix	brain
27	chr22:29900800-29909000	Strong transcription	Fetal Brain Female	brain
28	chr22:29900800-29909600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr22:29900800-29909800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr22:29900800-29918000	Strong transcription	Fetal Muscle Leg	muscle
31	chr22:29900800-29929000	Strong transcription	Fetal Intestine Small	intestine
32	chr22:29900800-29930600	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr22:29901000-29903800	Weak transcription	Colonic Mucosa	Colon
34	chr22:29901000-29908600	Strong transcription	Left Ventricle	heart
35	chr22:29901000-29908800	Strong transcription	Thymus	Thymus
36	chr22:29901000-29909000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr22:29901000-29909200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr22:29901000-29918000	Strong transcription	Fetal Intestine Large	intestine
39	chr22:29901000-29918400	Strong transcription	Fetal Muscle Trunk	muscle
40	chr22:29901000-29947600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr22:29901200-29908800	Strong transcription	HSMM	muscle
42	chr22:29901200-29908800	Strong transcription	NHEK	skin
43	chr22:29901200-29909000	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr22:29901200-29909000	Strong transcription	Liver	Liver
45	chr22:29901200-29909200	Strong transcription	Brain Hippocampus Middle	brain
46	chr22:29901200-29909800	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr22:29901200-29909800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr22:29901200-29910200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr22:29901200-29913400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr22:29901200-29916600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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