Variant report

Variant	rs5998118
Chromosome Location	chr22:32158618-32158619
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	22:32154575-32162110..22:32338420-32342898	K562	blood:
2	chr22:32145119..32147387-chr22:32156646..32159584,2	K562	blood:
3	22:32154575-32162110..22:32264718-32278135	GM12878	blood:
4	22:31864703-31891033..22:32154575-32162110	K562	blood:
5	chr22:32156749..32159576-chr22:32339239..32341674,2	K562	blood:
6	22:32154575-32162110..22:32228866-32235273	K562	blood:
7	22:32154575-32162110..22:32342898-32343477	GM12878	blood:
8	22:31803954-31807204..22:32154575-32162110	K562	blood:
9	22:31836635-31847259..22:32154575-32162110	GM12878	blood:
10	chr22:32145083..32147387-chr22:32158084..32159808,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000184708	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000252909	Chromatin interaction
ENSG00000183530	Chromatin interaction
ENSG00000199248	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000100150	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10483161	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11089523	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11089525	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11089528	0.86[ASN][1000 genomes]
rs12165680	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12165705	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12166823	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17761473	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17761491	0.87[ASN][1000 genomes]
rs2108106	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2108107	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5994426	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9306268	0.82[ASN][1000 genomes]
rs9619229	0.94[ASN][1000 genomes]
rs9621305	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9621312	0.89[ASN][1000 genomes]
rs9621326	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9621330	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9621331	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9621345	0.91[EUR][1000 genomes];0.92[ASN][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	nsv1060929	chr22:32102701-32176860	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32150400-32161200	Weak transcription	Aorta	Aorta
2	chr22:32150400-32174200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:32150600-32172600	Weak transcription	Small Intestine	intestine
4	chr22:32150800-32161000	Weak transcription	HSMMtube	muscle
5	chr22:32150800-32212800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:32151000-32158800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr22:32151000-32159400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr22:32151000-32159400	Weak transcription	Osteobl	bone
9	chr22:32151000-32160800	Weak transcription	HSMM	muscle
10	chr22:32151000-32161000	Weak transcription	Fetal Kidney	kidney
11	chr22:32151000-32164400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr22:32151000-32174400	Weak transcription	Psoas Muscle	Psoas
13	chr22:32151000-32210800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr22:32151200-32161200	Weak transcription	Pancreas	Pancrea
15	chr22:32151200-32161600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr22:32151200-32174800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr22:32151200-32181000	Weak transcription	NHDF-Ad	bronchial
18	chr22:32151400-32160800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr22:32151400-32162200	Weak transcription	Hela-S3	cervix
20	chr22:32151400-32162400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr22:32151400-32164400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr22:32151400-32217400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr22:32151600-32162400	Weak transcription	Fetal Heart	heart
24	chr22:32151600-32170600	Weak transcription	HUVEC	blood vessel
25	chr22:32151600-32178200	Weak transcription	Stomach Mucosa	stomach
26	chr22:32151800-32160800	Weak transcription	HMEC	breast
27	chr22:32151800-32162200	Weak transcription	A549	lung
28	chr22:32151800-32173800	Weak transcription	HepG2	liver
29	chr22:32152200-32160000	Strong transcription	Fetal Brain Female	brain
30	chr22:32152200-32163200	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr22:32152200-32184000	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr22:32152400-32167600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr22:32152400-32187000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr22:32153000-32163600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr22:32153000-32166400	Strong transcription	Primary T cells from cord blood	blood
36	chr22:32153000-32181600	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr22:32153200-32161200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr22:32153200-32164000	Strong transcription	Fetal Muscle Leg	muscle
39	chr22:32153200-32168800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr22:32153400-32160600	Weak transcription	K562	blood
41	chr22:32153400-32187000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr22:32153800-32183800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr22:32154000-32170800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr22:32154000-32182000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr22:32154000-32188600	Strong transcription	Fetal Muscle Trunk	muscle
46	chr22:32154200-32162200	Strong transcription	Fetal Intestine Small	intestine
47	chr22:32154200-32163000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr22:32154200-32163200	Strong transcription	Brain Hippocampus Middle	brain
49	chr22:32154200-32163400	Strong transcription	Fetal Intestine Large	intestine
50	chr22:32154200-32163600	Strong transcription	Thymus	Thymus

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