Variant report

Variant	rs131226
Chromosome Location	chr22:32114843-32114844
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:31836635-31847259..22:32110635-32115702	Hela-S3	cervix:
2	22:32110635-32115702..22:32860159-32865649	K562	blood:
3	22:32110635-32115702..22:32170492-32188129	GM12878	blood:
4	22:32110635-32115702..22:32342898-32343477	GM12878	blood:

Variant related genes	Relation type
ENSG00000100150	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000128245	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs1013703	0.93[ASN][1000 genomes]
rs1076674	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11089530	0.87[ASN][1000 genomes]
rs11703040	0.87[ASN][1000 genomes]
rs11703079	0.82[AMR][1000 genomes]
rs11703102	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11703104	0.87[ASN][1000 genomes]
rs11703232	0.87[ASN][1000 genomes]
rs11703275	0.87[ASN][1000 genomes]
rs11703810	0.87[ASN][1000 genomes]
rs11703854	0.87[ASN][1000 genomes]
rs11704362	0.93[ASN][1000 genomes]
rs11704377	0.87[ASN][1000 genomes]
rs11705097	0.87[ASN][1000 genomes]
rs11705329	0.93[ASN][1000 genomes]
rs12157427	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12157989	0.87[ASN][1000 genomes]
rs12158002	0.82[AMR][1000 genomes]
rs12159673	0.87[ASN][1000 genomes]
rs12160120	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12160737	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12166848	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs131222	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs131224	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs131228	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs131235	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs131237	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs131241	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs131243	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs131246	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs131251	0.93[ASN][1000 genomes]
rs131252	0.93[ASN][1000 genomes]
rs131254	0.93[ASN][1000 genomes]
rs140079	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs140083	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs140085	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16989529	0.87[ASN][1000 genomes]
rs2040981	0.81[ASN][1000 genomes]
rs2413058	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28374732	0.87[AMR][1000 genomes]
rs3804088	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4603881	0.93[ASN][1000 genomes]
rs55645350	0.87[ASN][1000 genomes]
rs55699591	0.87[ASN][1000 genomes]
rs56406828	0.82[AMR][1000 genomes]
rs5753753	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs5994424	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5998063	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5998066	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5998068	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5998070	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5998071	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5998079	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs5998080	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs5998081	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs5998082	0.83[AMR][1000 genomes]
rs5998084	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs5998085	0.85[AMR][1000 genomes]
rs5998089	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs5998091	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs5998093	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5998095	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5998098	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5998099	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5998103	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5998113	0.93[ASN][1000 genomes]
rs5998114	0.93[ASN][1000 genomes]
rs5998116	0.93[ASN][1000 genomes]
rs5998123	0.87[ASN][1000 genomes]
rs5998133	0.87[ASN][1000 genomes]
rs5998134	0.87[ASN][1000 genomes]
rs5998135	0.87[ASN][1000 genomes]
rs60136719	0.87[ASN][1000 genomes]
rs60209974	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60669705	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61273982	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62238893	0.87[ASN][1000 genomes]
rs62238895	0.87[ASN][1000 genomes]
rs62238904	0.87[ASN][1000 genomes]
rs62238906	0.87[ASN][1000 genomes]
rs62239167	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62239185	0.88[AMR][1000 genomes]
rs62239186	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62239187	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62239188	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62240515	0.93[ASN][1000 genomes]
rs62240684	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62240686	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62240687	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7289259	0.93[ASN][1000 genomes]
rs7289535	0.81[ASN][1000 genomes]
rs7291898	0.87[ASN][1000 genomes]
rs73162139	0.93[ASN][1000 genomes]
rs740227	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8136047	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8141719	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8143084	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs81946	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9619221	0.84[AMR][1000 genomes]
rs9619222	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9619224	0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9621307	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9621316	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32078800-32126000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr22:32080400-32121400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr22:32081200-32126400	Weak transcription	Stomach Mucosa	stomach
4	chr22:32089400-32126000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr22:32102800-32123000	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr22:32103000-32125000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr22:32105000-32121400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr22:32105000-32124000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr22:32105000-32124200	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr22:32105200-32123600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr22:32105400-32124200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr22:32105800-32123200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr22:32105800-32124600	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr22:32105800-32125000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr22:32106200-32117000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr22:32106400-32122800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr22:32106600-32116600	Strong transcription	Primary B cells from peripheral blood	blood
18	chr22:32107600-32124000	Strong transcription	Placenta	Placenta
19	chr22:32109600-32128200	Weak transcription	Pancreas	Pancrea
20	chr22:32111200-32120000	Weak transcription	Fetal Brain Male	brain
21	chr22:32111600-32120400	Weak transcription	Esophagus	oesophagus
22	chr22:32111800-32115600	Weak transcription	Spleen	Spleen
23	chr22:32111800-32119000	Weak transcription	Gastric	stomach
24	chr22:32111800-32122800	Weak transcription	Right Ventricle	heart
25	chr22:32112000-32120600	Weak transcription	NHLF	lung
26	chr22:32112200-32118600	Weak transcription	Fetal Heart	heart
27	chr22:32112200-32142000	Weak transcription	Hela-S3	cervix
28	chr22:32112200-32145000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr22:32113000-32115600	Weak transcription	Small Intestine	intestine
30	chr22:32113000-32119600	Weak transcription	Brain Germinal Matrix	brain
31	chr22:32113000-32121200	Weak transcription	Aorta	Aorta
32	chr22:32113000-32123800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr22:32113200-32115000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr22:32113200-32115000	Weak transcription	Left Ventricle	heart
35	chr22:32113200-32115000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr22:32113200-32115400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr22:32113200-32115400	Weak transcription	Osteobl	bone
38	chr22:32113200-32115600	Weak transcription	Adipose Nuclei	Adipose
39	chr22:32113200-32118600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr22:32113200-32118600	Weak transcription	Brain Substantia Nigra	brain
41	chr22:32113200-32118800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr22:32113200-32118800	Weak transcription	Brain Angular Gyrus	brain
43	chr22:32113200-32118800	Weak transcription	A549	lung
44	chr22:32113200-32119000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr22:32113200-32119000	Weak transcription	Colon Smooth Muscle	Colon
46	chr22:32113200-32119200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr22:32113200-32119600	Weak transcription	K562	blood
48	chr22:32113200-32120200	Weak transcription	Ovary	ovary
49	chr22:32113200-32122800	Weak transcription	Psoas Muscle	Psoas
50	chr22:32113200-32132600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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