Variant report

Variant	rs5998121
Chromosome Location	chr22:32172367-32172368
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:32170492-32188129..22:33178968-33185617	Hela-S3	cervix:
2	22:31936958-31958600..22:32170492-32188129	GM12878	blood:
3	22:32170492-32188129..22:32284948-32287956	Hela-S3	cervix:
4	22:32170492-32188129..22:32347255-32351014	K562	blood:
5	22:32170492-32188129..22:32846948-32860159	K562	blood:

Variant related genes	Relation type
ENSG00000227813	Chromatin interaction
ENSG00000229673	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000238910	Chromatin interaction
ENSG00000184459	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11089527	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs131244	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs131245	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs131250	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs131253	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs140078	0.81[ASN][1000 genomes]
rs140081	0.81[ASN][1000 genomes]
rs2012150	0.81[EUR][1000 genomes]
rs2108108	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28528942	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5994427	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5994431	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5994432	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs5998119	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5998122	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998126	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5998131	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5998136	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62238892	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7290856	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs8141214	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9619234	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9621327	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];0.82[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:125 , 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	chr22:32151000-32174400	Weak transcription	Psoas Muscle	Psoas
5	chr22:32151000-32210800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr22:32151200-32174800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr22:32151200-32181000	Weak transcription	NHDF-Ad	bronchial
8	chr22:32151400-32217400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr22:32151600-32178200	Weak transcription	Stomach Mucosa	stomach
10	chr22:32151800-32173800	Weak transcription	HepG2	liver
11	chr22:32152200-32184000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr22:32152400-32187000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:32153000-32181600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr22:32153400-32187000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr22:32153800-32183800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr22:32154000-32182000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr22:32154000-32188600	Strong transcription	Fetal Muscle Trunk	muscle
18	chr22:32154200-32180600	Strong transcription	Fetal Stomach	stomach
19	chr22:32154200-32184000	Strong transcription	Liver	Liver
20	chr22:32154400-32188200	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr22:32156200-32182200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr22:32156400-32184000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr22:32156800-32172400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr22:32159000-32177000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr22:32159200-32179600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr22:32159400-32184200	Strong transcription	Primary B cells from peripheral blood	blood
27	chr22:32159600-32186600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr22:32159600-32207600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr22:32161400-32174400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr22:32162000-32173800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr22:32162000-32173800	Weak transcription	Esophagus	oesophagus
32	chr22:32162000-32173800	Weak transcription	Pancreas	Pancrea
33	chr22:32162000-32174600	Weak transcription	Right Ventricle	heart
34	chr22:32162400-32174400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr22:32162600-32174000	Weak transcription	NHEK	skin
36	chr22:32162600-32174200	Weak transcription	HSMMtube	muscle
37	chr22:32162600-32174600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr22:32162800-32173800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr22:32162800-32174000	Weak transcription	Brain Angular Gyrus	brain
40	chr22:32163000-32174000	Weak transcription	Fetal Kidney	kidney
41	chr22:32163000-32174600	Weak transcription	A549	lung
42	chr22:32163200-32174600	Weak transcription	HMEC	breast
43	chr22:32163200-32185400	Weak transcription	Fetal Heart	heart
44	chr22:32164000-32182200	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr22:32164400-32176800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr22:32164600-32172600	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr22:32164600-32196000	Weak transcription	Hela-S3	cervix
48	chr22:32164800-32174600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr22:32165000-32173800	Weak transcription	NH-A	brain
50	chr22:32165000-32174000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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