Variant report

Variant	rs131221
Chromosome Location	chr22:32104667-32104668
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:32104510-32104687	K562	blood:	n/a	n/a
2	POLR2A	chr22:32104346-32104693	HepG2	liver:	n/a	n/a
3	POLR2A	chr22:32104535-32104691	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32102727-32109893..22:32846948-32860159	GM12878	blood:

Variant related genes	Relation type
PRR14L	TF binding region
ENSG00000184459	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11089522	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11702881	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12165432	0.81[AFR][1000 genomes]
rs131225	0.87[AFR][1000 genomes]
rs131231	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131233	0.82[AFR][1000 genomes]
rs140078	0.86[AFR][1000 genomes]
rs140081	0.87[AFR][1000 genomes]
rs5994419	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5998069	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5998074	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5998078	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5998086	0.81[AFR][1000 genomes]
rs5998115	0.91[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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32073400-32111800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr22:32076600-32107600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:32077200-32108000	Weak transcription	Psoas Muscle	Psoas
4	chr22:32077200-32109200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr22:32078000-32111400	Strong transcription	Fetal Intestine Small	intestine
6	chr22:32078400-32111800	Strong transcription	Fetal Stomach	stomach
7	chr22:32078800-32107800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr22:32078800-32126000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr22:32079000-32113800	Strong transcription	Fetal Muscle Trunk	muscle
10	chr22:32080400-32121400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr22:32081200-32126400	Weak transcription	Stomach Mucosa	stomach
12	chr22:32081600-32110600	Weak transcription	Hela-S3	cervix
13	chr22:32089200-32113800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr22:32089400-32126000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr22:32089800-32108000	Weak transcription	A549	lung
16	chr22:32091800-32108200	Weak transcription	Pancreas	Pancrea
17	chr22:32092000-32113800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr22:32093800-32108000	Weak transcription	Fetal Brain Male	brain
19	chr22:32095400-32113400	Strong transcription	Fetal Intestine Large	intestine
20	chr22:32098200-32107800	Weak transcription	Colonic Mucosa	Colon
21	chr22:32098600-32111600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr22:32099400-32110000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr22:32099600-32105800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr22:32099600-32106200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr22:32099600-32108000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr22:32099600-32108000	Weak transcription	Fetal Kidney	kidney
27	chr22:32099600-32111400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr22:32099800-32108000	Weak transcription	Small Intestine	intestine
29	chr22:32100800-32105800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr22:32100800-32106200	Weak transcription	HepG2	liver
31	chr22:32100800-32106200	Weak transcription	NH-A	brain
32	chr22:32100800-32107800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr22:32100800-32107800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr22:32100800-32108000	Weak transcription	Brain Anterior Caudate	brain
35	chr22:32100800-32108000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr22:32100800-32108000	Weak transcription	K562	blood
37	chr22:32100800-32108800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr22:32101000-32105000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr22:32101000-32105200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr22:32101000-32105200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr22:32101000-32105800	Weak transcription	Fetal Brain Female	brain
42	chr22:32101000-32106000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr22:32101000-32106000	Weak transcription	Brain Hippocampus Middle	brain
44	chr22:32101000-32106200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr22:32101000-32106600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr22:32101000-32106600	Weak transcription	Primary B cells from cord blood	blood
47	chr22:32101000-32106600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr22:32101000-32106600	Weak transcription	Colon Smooth Muscle	Colon
49	chr22:32101000-32106800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr22:32101000-32106800	Weak transcription	Brain Inferior Temporal Lobe	brain

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