Variant report

Variant	rs4821001
Chromosome Location	chr22:32344403-32344404
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	chr22:32344068-32344501	GM12891	blood:	n/a	n/a
2	POLR2A	chr22:32343919-32344484	K562	blood:	n/a	n/a
3	POLR2A	chr22:32339606-32345108	IMR90	lung:	n/a	n/a
4	POLR2A	chr22:32344371-32344669	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr22:32344044-32345036	K562	blood:	n/a	n/a
6	POLR2A	chr22:32344006-32344823	GM12892	blood:	n/a	n/a
7	POLR2A	chr22:32343958-32344776	K562	blood:	n/a	n/a
8	POLR2A	chr22:32344103-32344555	GM12892	blood:	n/a	n/a
9	POLR2A	chr22:32344046-32344433	GM12891	blood:	n/a	n/a
10	POLR2A	chr22:32341627-32345124	HepG2	liver:	n/a	n/a
11	POLR2A	chr22:32344150-32344529	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr22:32342823-32345191	H1-hESC	embryonic stem cell:	n/a	n/a
13	STAT3	chr22:32344078-32344474	MCF10A-Er-Src	breast:	n/a	chr22:32344264-32344272 chr22:32344262-32344273 chr22:32344258-32344278 chr22:32344261-32344275
14	POLR2A	chr22:32344075-32345044	A549	lung:	n/a	n/a
15	POLR2A	chr22:32344156-32344488	GM12878	blood:	n/a	n/a
16	POLR2A	chr22:32344053-32345000	Hela-S3	cervix:	n/a	n/a
17	STAT3	chr22:32344095-32344437	MCF10A-Er-Src	breast:	n/a	chr22:32344264-32344272 chr22:32344262-32344273 chr22:32344258-32344278 chr22:32344261-32344275
18	POLR2A	chr22:32344179-32344484	HepG2	liver:	n/a	n/a
19	POLR2A	chr22:32339799-32349498	K562	blood:	n/a	n/a
20	POLR2A	chr22:32344367-32345019	MCF-7	breast:	n/a	n/a
21	POLR2A	chr22:32344013-32344758	GM12892	blood:	n/a	n/a
22	POLR2A	chr22:32343935-32345061	PFSK-1	brain:	n/a	n/a
23	POLR2A	chr22:32344034-32344592	GM12892	blood:	n/a	n/a
24	POLR2A	chr22:32344160-32344452	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr22:32344087-32344739	K562	blood:	n/a	n/a
26	STAT3	chr22:32344145-32344437	MCF10A-Er-Src	breast:	n/a	chr22:32344264-32344272 chr22:32344262-32344273 chr22:32344258-32344278 chr22:32344261-32344275
27	POLR2A	chr22:32344094-32344966	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	22:32343477-32346868..22:32868055-32872511	K562	blood:
2	22:32053085-32061138..22:32343477-32346868	Hela-S3	cervix:
3	chr22:32296295..32297952-chr22:32343525..32345760,2	K562	blood:
4	chr22:32287695..32295635-chr22:32339159..32346051,14	K562	blood:
5	chr22:32290403..32295434-chr22:32338835..32345403,11	K562	blood:
6	22:32170492-32188129..22:32343477-32346868	Hela-S3	cervix:
7	chr22:32340998..32345394-chr22:32364660..32368897,5	MCF-7	breast:
8	chr22:32264603..32274220-chr22:32339477..32348693,21	K562	blood:
9	chr22:32056716..32060506-chr22:32341976..32344669,4	MCF-7	breast:
10	chr22:32142746..32147740-chr22:32340513..32344780,7	K562	blood:
11	22:32264718-32278135..22:32343477-32346868	K562	blood:

Variant related genes	Relation type
C22orf24	TF binding region
ENSG00000238910	TF binding region
ENSG00000100225	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000230866	Chromatin interaction
ENSG00000183530	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10483162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10483163	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1475996	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1475997	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1547411	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17682385	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17682583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17682819	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17683011	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17683310	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17683430	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17683448	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17683471	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17683704	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17744899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17744994	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17745316	1.00[AFR][1000 genomes]
rs17745543	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1810414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1883126	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1967470	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1967471	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2006867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2018440	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2413063	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2413064	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2413065	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2413066	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2899173	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2899174	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs33954001	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs33954397	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs41430344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4289286	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs45462396	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs45494991	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4820058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4820060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4820061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4820062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4820067	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4820068	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4821002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4821003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4821005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4821006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4821010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4821011	1.00[AMR][1000 genomes]
rs4821012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4821013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4821015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4821016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4821018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4821020	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4821021	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4821022	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4821023	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4821024	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4821025	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4821027	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4821028	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4821029	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4821030	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4821031	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4821036	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4821037	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55695217	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55739336	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56199077	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61742196	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62240588	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7289853	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs733907	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs733908	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73391051	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs734091	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs734092	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73881616	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7410743	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs743763	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs743764	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs976915	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs976916	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][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	nsv428046	chr22:32316302-32356963	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32341600-32346400	Weak transcription	Spleen	Spleen
2	chr22:32341800-32346200	Weak transcription	Esophagus	oesophagus
3	chr22:32342000-32347600	Weak transcription	Primary T cells from cord blood	blood
4	chr22:32342000-32354400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr22:32342200-32344800	Enhancers	Stomach Mucosa	stomach
6	chr22:32342200-32346400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:32342200-32347200	Weak transcription	Ovary	ovary
8	chr22:32342200-32347600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr22:32342200-32347800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr22:32342400-32357600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:32342600-32346200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr22:32342600-32346800	Weak transcription	Colonic Mucosa	Colon
13	chr22:32342800-32344600	Genic enhancers	Dnd41	blood
14	chr22:32342800-32346200	Weak transcription	Fetal Kidney	kidney
15	chr22:32342800-32346200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr22:32342800-32346400	Weak transcription	HSMMtube	muscle
17	chr22:32342800-32347800	Weak transcription	Psoas Muscle	Psoas
18	chr22:32343000-32346800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr22:32343200-32345600	Weak transcription	Brain Anterior Caudate	brain
20	chr22:32343200-32345800	Strong transcription	HSMM	muscle
21	chr22:32343200-32346200	Weak transcription	Right Ventricle	heart
22	chr22:32343200-32347600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr22:32343400-32344600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr22:32343400-32344600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr22:32343400-32344600	Genic enhancers	NHEK	skin
26	chr22:32343400-32345200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr22:32343400-32345600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr22:32343400-32345800	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr22:32343400-32345800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr22:32343400-32346200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr22:32343400-32347200	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr22:32343400-32347200	Weak transcription	Small Intestine	intestine
33	chr22:32343400-32347400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr22:32343400-32347600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr22:32343400-32348000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr22:32343400-32348000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr22:32343400-32350400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr22:32343400-32355000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr22:32343600-32344600	Genic enhancers	Fetal Brain Female	brain
40	chr22:32343600-32344800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr22:32343600-32344800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr22:32343600-32344800	Enhancers	Fetal Brain Male	brain
43	chr22:32343600-32344800	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr22:32343600-32345000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr22:32343600-32345000	Strong transcription	Primary hematopoietic stem cells	blood
46	chr22:32343600-32345200	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr22:32343600-32345800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr22:32343600-32345800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr22:32343600-32345800	Weak transcription	Fetal Heart	heart
50	chr22:32343600-32346200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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