Variant report

Variant	rs62238893
Chromosome Location	chr22:32161784-32161785
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:32148657..32151429-chr22:32161601..32165600,4	MCF-7	breast:
2	22:32154575-32162110..22:32338420-32342898	K562	blood:
3	22:32154575-32162110..22:32264718-32278135	GM12878	blood:
4	22:31864703-31891033..22:32154575-32162110	K562	blood:
5	chr22:32159701..32162486-chr22:32163172..32165541,2	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:

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

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1013703	0.93[ASN][1000 genomes]
rs11089530	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703040	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703104	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703232	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703275	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703810	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703854	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704362	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11704377	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11705097	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11705329	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12157989	1.00[ASN][1000 genomes]
rs12159673	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12160120	0.87[ASN][1000 genomes]
rs131222	0.87[ASN][1000 genomes]
rs131224	0.87[ASN][1000 genomes]
rs131226	0.87[ASN][1000 genomes]
rs131228	0.87[ASN][1000 genomes]
rs131235	0.87[ASN][1000 genomes]
rs131237	0.87[ASN][1000 genomes]
rs131241	0.93[ASN][1000 genomes]
rs131243	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs131246	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs131251	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs131252	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs131254	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs140079	0.87[ASN][1000 genomes]
rs140083	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs140085	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16989529	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989600	0.84[AMR][1000 genomes]
rs2040981	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2413058	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4603881	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55645350	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55699591	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994424	0.87[ASN][1000 genomes]
rs5998093	0.87[ASN][1000 genomes]
rs5998095	0.87[ASN][1000 genomes]
rs5998098	0.87[ASN][1000 genomes]
rs5998099	0.87[ASN][1000 genomes]
rs5998103	0.87[ASN][1000 genomes]
rs5998113	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5998114	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs5998116	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5998123	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998133	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998134	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998135	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998155	0.81[AMR][1000 genomes]
rs60136719	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60669705	0.87[ASN][1000 genomes]
rs61273982	0.93[ASN][1000 genomes]
rs62238895	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62238904	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62238906	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62240515	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62240684	0.87[ASN][1000 genomes]
rs62240686	0.87[ASN][1000 genomes]
rs62240687	0.87[ASN][1000 genomes]
rs7289259	0.93[ASN][1000 genomes]
rs7289535	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7291742	0.81[AMR][1000 genomes]
rs7291898	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73162139	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs740227	0.87[ASN][1000 genomes]
rs8141719	0.87[ASN][1000 genomes]
rs81946	0.87[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	chr22:32150400-32174200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:32150600-32172600	Weak transcription	Small Intestine	intestine
3	chr22:32150800-32212800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:32151000-32164400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr22:32151000-32174400	Weak transcription	Psoas Muscle	Psoas
6	chr22:32151000-32210800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:32151200-32174800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr22:32151200-32181000	Weak transcription	NHDF-Ad	bronchial
9	chr22:32151400-32162200	Weak transcription	Hela-S3	cervix
10	chr22:32151400-32162400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr22:32151400-32164400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr22:32151400-32217400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr22:32151600-32162400	Weak transcription	Fetal Heart	heart
14	chr22:32151600-32170600	Weak transcription	HUVEC	blood vessel
15	chr22:32151600-32178200	Weak transcription	Stomach Mucosa	stomach
16	chr22:32151800-32162200	Weak transcription	A549	lung
17	chr22:32151800-32173800	Weak transcription	HepG2	liver
18	chr22:32152200-32163200	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr22:32152200-32184000	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr22:32152400-32167600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr22:32152400-32187000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:32153000-32163600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr22:32153000-32166400	Strong transcription	Primary T cells from cord blood	blood
24	chr22:32153000-32181600	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr22:32153200-32164000	Strong transcription	Fetal Muscle Leg	muscle
26	chr22:32153200-32168800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr22:32153400-32187000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr22:32153800-32183800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr22:32154000-32170800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr22:32154000-32182000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr22:32154000-32188600	Strong transcription	Fetal Muscle Trunk	muscle
32	chr22:32154200-32162200	Strong transcription	Fetal Intestine Small	intestine
33	chr22:32154200-32163000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr22:32154200-32163200	Strong transcription	Brain Hippocampus Middle	brain
35	chr22:32154200-32163400	Strong transcription	Fetal Intestine Large	intestine
36	chr22:32154200-32163600	Strong transcription	Thymus	Thymus
37	chr22:32154200-32170000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr22:32154200-32170800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr22:32154200-32171000	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr22:32154200-32180600	Strong transcription	Fetal Stomach	stomach
41	chr22:32154200-32184000	Strong transcription	Liver	Liver
42	chr22:32154400-32188200	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr22:32156200-32166200	Strong transcription	Stomach Smooth Muscle	stomach
44	chr22:32156200-32170000	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr22:32156200-32182200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr22:32156400-32168600	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr22:32156400-32184000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr22:32156600-32167000	Strong transcription	Adipose Nuclei	Adipose
49	chr22:32156800-32172400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr22:32158000-32163600	Strong transcription	Sigmoid Colon	Sigmoid Colon

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