Variant report

Variant	rs73881354
Chromosome Location	chr22:31627542-31627543
allele	A/G
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	CTCF	chr22:31626974-31627552	A549	lung:	n/a	chr22:31627321-31627342
2	FOXA1	chr22:31626963-31627557	HepG2	liver:	n/a	n/a
3	RAD21	chr22:31626887-31627727	SK-N-SH	brain:	n/a	chr22:31627327-31627340 chr22:31627326-31627338 chr22:31627324-31627343
4	POLR2A	chr22:31627115-31627711	HUVEC	blood vessel:	n/a	n/a
5	GATA2	chr22:31627135-31627651	HUVEC	blood vessel:	n/a	n/a
6	SMC3	chr22:31626749-31627730	SK-N-SH	brain:	n/a	chr22:31627328-31627342
7	RAD21	chr22:31627060-31627566	A549	lung:	n/a	chr22:31627327-31627340 chr22:31627326-31627338 chr22:31627324-31627343
8	SMC3	chr22:31626905-31627595	HepG2	liver:	n/a	chr22:31627328-31627342
9	CTCF	chr22:31627079-31627543	GM12878	blood:	n/a	chr22:31627321-31627342
10	FOXA1	chr22:31627079-31627632	HepG2	liver:	n/a	n/a
11	RAD21	chr22:31627088-31627622	MCF-7	breast:	n/a	chr22:31627327-31627340 chr22:31627326-31627338 chr22:31627324-31627343
12	FOXA2	chr22:31627054-31627567	HepG2	liver:	n/a	n/a
13	POLR2A	chr22:31627228-31627659	HUVEC	blood vessel:	n/a	n/a
14	FOXA1	chr22:31626990-31627602	HepG2	liver:	n/a	n/a
15	RAD21	chr22:31626824-31627590	HepG2	liver:	n/a	chr22:31627327-31627340 chr22:31627326-31627338 chr22:31627324-31627343
16	FOXA1	chr22:31626985-31627578	HepG2	liver:	n/a	n/a
17	RAD21	chr22:31627050-31627554	SK-N-SH_RA	brain:	n/a	chr22:31627327-31627340 chr22:31627326-31627338 chr22:31627324-31627343
18	RAD21	chr22:31626855-31627614	HepG2	liver:	n/a	chr22:31627327-31627340 chr22:31627326-31627338 chr22:31627324-31627343
19	CTCF	chr22:31627038-31627572	HepG2	liver:	n/a	chr22:31627321-31627342
20	CTCF	chr22:31626890-31627739	SK-N-SH	brain:	n/a	chr22:31627321-31627342
21	POLR2A	chr22:31627291-31627563	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr22:31627259-31627738	HUVEC	blood vessel:	n/a	n/a
23	RAD21	chr22:31627119-31627571	H1-hESC	embryonic stem cell:	n/a	chr22:31627327-31627340 chr22:31627326-31627338 chr22:31627324-31627343
24	RAD21	chr22:31627096-31627591	HCT-116	colon:	n/a	chr22:31627327-31627340 chr22:31627326-31627338 chr22:31627324-31627343
25	RAD21	chr22:31627064-31627543	HCT-116	colon:	n/a	chr22:31627327-31627340 chr22:31627326-31627338 chr22:31627324-31627343
26	MYBL2	chr22:31626946-31627613	HepG2	liver:	n/a	n/a
27	RAD21	chr22:31627056-31627607	MCF-7	breast:	n/a	chr22:31627327-31627340 chr22:31627326-31627338 chr22:31627324-31627343
28	POLR2A	chr22:31627122-31627606	HepG2	liver:	n/a	n/a
29	POLR2A	chr22:31626931-31627788	HUVEC	blood vessel:	n/a	n/a
30	RAD21	chr22:31627085-31627585	A549	lung:	n/a	chr22:31627327-31627340 chr22:31627326-31627338 chr22:31627324-31627343
31	CTCF	chr22:31626996-31627583	HCT-116	colon:	n/a	chr22:31627321-31627342
32	CTCF	chr22:31626977-31627652	MCF-7	breast:	n/a	chr22:31627321-31627342
33	CTCF	chr22:31627092-31627607	K562	blood:	n/a	chr22:31627321-31627342

No.	Distal block	Cell Line	Cell type
1	chr22:31607628..31608471-chr22:31626909..31627775,3	MCF-7	breast:
2	chr22:31595245..31595896-chr22:31627023..31627669,3	MCF-7	breast:
3	chr22:31626760..31629463-chr22:31643016..31645359,2	MCF-7	breast:
4	chr22:31503381..31504291-chr22:31626855..31627910,6	K562	blood:
5	chr22:31482773..31485037-chr22:31624990..31627898,2	K562	blood:
6	chr22:31159497..31160383-chr22:31626945..31627686,2	MCF-7	breast:
7	chr22:31501659..31503916-chr22:31627091..31628996,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000202019	TF binding region
ENSG00000183963	Chromatin interaction
ENSG00000182541	Chromatin interaction
ENSG00000184792	Chromatin interaction
ENSG00000198832	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs58465541	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5997885	1.00[AMR][1000 genomes]
rs5997967	1.00[AMR][1000 genomes]
rs5997970	1.00[AMR][1000 genomes]
rs61282733	1.00[AMR][1000 genomes]
rs73881328	1.00[AMR][1000 genomes]
rs73881343	1.00[AMR][1000 genomes]
rs73881353	1.00[AMR][1000 genomes]
rs73881371	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459871	chr22:31551160-31680624	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv588893	chr22:31551160-31680624	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1058844	chr22:31597104-31725296	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31608800-31639800	Weak transcription	Aorta	Aorta
2	chr22:31609200-31629000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr22:31609600-31639200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr22:31609800-31629400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr22:31615200-31629000	Weak transcription	NH-A	brain
6	chr22:31620200-31637200	Weak transcription	HSMM	muscle
7	chr22:31620800-31630000	Weak transcription	Brain Angular Gyrus	brain
8	chr22:31621400-31628200	Genic enhancers	HepG2	liver
9	chr22:31621600-31629600	Genic enhancers	Fetal Intestine Small	intestine
10	chr22:31622200-31636800	Weak transcription	Hela-S3	cervix
11	chr22:31622600-31637400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr22:31623800-31632800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr22:31624600-31630000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr22:31624800-31627800	Enhancers	Primary T cells from cord blood	blood
15	chr22:31624800-31628000	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr22:31624800-31630000	Enhancers	Placenta	Placenta
17	chr22:31625000-31627600	Enhancers	Liver	Liver
18	chr22:31625000-31627800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr22:31625000-31627800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr22:31625000-31627800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr22:31625000-31629800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr22:31625200-31627600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr22:31625200-31627600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr22:31625200-31627600	Enhancers	Fetal Lung	lung
25	chr22:31625200-31627600	Enhancers	Fetal Muscle Leg	muscle
26	chr22:31625200-31627600	Enhancers	Psoas Muscle	Psoas
27	chr22:31625200-31627600	Enhancers	Right Atrium	heart
28	chr22:31625200-31627800	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr22:31625200-31627800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr22:31625200-31627800	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr22:31625200-31628400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr22:31625400-31627600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr22:31625400-31627600	Enhancers	Primary B cells from peripheral blood	blood
34	chr22:31625400-31627600	Enhancers	Brain Anterior Caudate	brain
35	chr22:31625400-31627600	Enhancers	Stomach Smooth Muscle	stomach
36	chr22:31625400-31627800	Enhancers	Colon Smooth Muscle	Colon
37	chr22:31625400-31628000	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr22:31625400-31629200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr22:31625600-31627600	Enhancers	Primary T cells fromperipheralblood	blood
40	chr22:31625600-31627800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr22:31625600-31627800	Enhancers	Fetal Intestine Large	intestine
42	chr22:31625600-31628000	Enhancers	Brain Hippocampus Middle	brain
43	chr22:31625600-31639800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr22:31625800-31627800	Enhancers	Duodenum Mucosa	Duodenum
45	chr22:31625800-31629200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr22:31625800-31636000	Weak transcription	Ovary	ovary
47	chr22:31625800-31637000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr22:31625800-31637000	Weak transcription	HMEC	breast
49	chr22:31625800-31639600	Weak transcription	Esophagus	oesophagus
50	chr22:31626000-31628400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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