Variant report

Variant	rs56338522
Chromosome Location	chr22:31976235-31976236
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	NR2F2	chr22:31975656-31976299	MCF-7	breast:	n/a	n/a
2	FOXA1	chr22:31975632-31976366	HepG2	liver:	n/a	chr22:31975931-31975946
3	ZNF217	chr22:31975733-31976353	MCF-7	breast:	n/a	n/a
4	HDAC2	chr22:31975703-31976374	MCF-7	breast:	n/a	chr22:31975936-31975945
5	EP300	chr22:31975699-31976417	MCF-7	breast:	n/a	chr22:31975936-31975946
6	FOXM1	chr22:31975663-31976379	MCF-7	breast:	n/a	n/a
7	FOXA2	chr22:31975483-31976592	HepG2	liver:	n/a	n/a
8	GATA3	chr22:31975885-31976272	MCF-7	breast:	n/a	n/a
9	MXI1	chr22:31975777-31976375	HepG2	liver:	n/a	n/a
10	FOXA1	chr22:31975616-31976401	HepG2	liver:	n/a	chr22:31975931-31975946
11	HDAC2	chr22:31975732-31976318	HepG2	liver:	n/a	chr22:31975936-31975945
12	FOXM1	chr22:31975710-31976421	MCF-7	breast:	n/a	n/a
13	EP300	chr22:31975652-31976368	HepG2	liver:	n/a	chr22:31975936-31975946
14	EGR1	chr22:31975732-31976260	MCF-7	breast:	n/a	chr22:31975954-31975978
15	TCF7L2	chr22:31975818-31976266	MCF-7	breast:	n/a	n/a
16	EP300	chr22:31975662-31976291	HepG2	liver:	n/a	chr22:31975936-31975946
17	FOXA1	chr22:31975788-31976235	T-47D	breast:	n/a	chr22:31975931-31975946
18	RFX5	chr22:31975857-31976309	HepG2	liver:	n/a	n/a
19	ARID3A	chr22:31975747-31976264	HepG2	liver:	n/a	n/a
20	HEY1	chr22:31975901-31976281	HepG2	liver:	n/a	n/a
21	MYBL2	chr22:31975660-31976341	HepG2	liver:	n/a	n/a
22	NR2F2	chr22:31975635-31976349	HepG2	liver:	n/a	n/a
23	NFIC	chr22:31975712-31976375	HepG2	liver:	n/a	n/a
24	NR2F2	chr22:31975622-31976529	MCF-7	breast:	n/a	n/a
25	FOXA2	chr22:31975706-31976289	A549	lung:	n/a	n/a
26	EGR1	chr22:31975794-31976282	MCF-7	breast:	n/a	chr22:31975954-31975978
27	NFIC	chr22:31975695-31976293	HepG2	liver:	n/a	n/a
28	HDAC2	chr22:31975749-31976258	MCF-7	breast:	n/a	chr22:31975936-31975945
29	TEAD4	chr22:31975616-31976285	HepG2	liver:	n/a	n/a
30	FOSL2	chr22:31975769-31976269	HepG2	liver:	n/a	n/a
31	POLR2A	chr22:31975923-31976263	HepG2	liver:	n/a	n/a
32	HEY1	chr22:31975855-31976307	HepG2	liver:	n/a	n/a
33	GATA3	chr22:31975654-31976558	MCF-7	breast:	n/a	n/a
34	SIN3AK20	chr22:31975775-31976524	MCF-7	breast:	n/a	n/a
35	MAX	chr22:31975690-31976497	HepG2	liver:	n/a	n/a
36	MYBL2	chr22:31975676-31976423	HepG2	liver:	n/a	n/a
37	GATA3	chr22:31975790-31976255	T-47D	breast:	n/a	n/a
38	SIN3AK20	chr22:31975664-31976425	MCF-7	breast:	n/a	n/a
39	HNF4A	chr22:31975821-31976261	HepG2	liver:	n/a	n/a
40	GATA3	chr22:31975623-31976505	MCF-7	breast:	n/a	n/a
41	MAX	chr22:31975658-31976317	MCF-7	breast:	n/a	n/a
42	RCOR1	chr22:31975873-31976249	HepG2	liver:	n/a	n/a
43	FOXA1	chr22:31975609-31976424	HepG2	liver:	n/a	chr22:31975931-31975946
44	RAD21	chr22:31975889-31976290	HepG2	liver:	n/a	n/a
45	FOXA2	chr22:31975739-31976394	HepG2	liver:	n/a	n/a
46	POLR2A	chr22:31975931-31976268	HepG2	liver:	n/a	n/a
47	MBD4	chr22:31975721-31976263	HepG2	liver:	n/a	n/a
48	SP1	chr22:31975725-31976314	HepG2	liver:	n/a	n/a
49	POLR2A	chr22:31975792-31976381	MCF-7	breast:	n/a	n/a
50	EP300	chr22:31975673-31976520	MCF-7	breast:	n/a	chr22:31975936-31975946

No.	Distal block	Cell Line	Cell type
1	chr22:31975899..31977942-chr22:32024771..32027892,3	MCF-7	breast:
2	chr22:31974878..31977685-chr22:31979541..31981630,2	K562	blood:
3	chr22:31974704..31977587-chr22:32057867..32059822,2	MCF-7	breast:
4	22:31976153-31978142..22:32162110-32166713	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DRG1-1	chr22:31976074-31976350	NONHSAT084901

Variant related genes	Relation type
SFI1	TF binding region
ENSG00000100150	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000198089	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16989291	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3747156	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3747157	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55883820	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55989741	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56219558	0.86[EUR][1000 genomes]
rs5994404	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994405	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994412	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5998045	0.83[EUR][1000 genomes]
rs73160648	0.84[EUR][1000 genomes]
rs73160657	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73160662	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73160669	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73160697	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8139890	0.86[EUR][1000 genomes]
rs9784236	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459872	chr22:31833759-31977594	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv588894	chr22:31833759-31977594	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv914979	chr22:31964043-31990184	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv914980	chr22:31966274-32024980	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv979746	chr22:31976201-31982901	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31927400-31979400	Weak transcription	NHDF-Ad	bronchial
2	chr22:31927400-31980000	Weak transcription	HSMMtube	muscle
3	chr22:31929800-31985600	Weak transcription	Fetal Kidney	kidney
4	chr22:31933600-31979600	Weak transcription	HUVEC	blood vessel
5	chr22:31934000-31981000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr22:31935200-31985400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:31935800-32013200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr22:31941400-31981400	Weak transcription	NHEK	skin
9	chr22:31947800-32009600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr22:31948200-31980000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr22:31949200-31981600	Weak transcription	Left Ventricle	heart
12	chr22:31949400-32014400	Weak transcription	Hela-S3	cervix
13	chr22:31949600-31977800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr22:31949800-31976400	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr22:31954400-31980000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr22:31957200-31977800	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr22:31957400-32016400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr22:31957800-31979600	Weak transcription	K562	blood
19	chr22:31958000-31983000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr22:31963200-31976400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr22:31964400-31979800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr22:31964600-31993600	Weak transcription	Psoas Muscle	Psoas
23	chr22:31965000-31977600	Strong transcription	Primary T cells from cord blood	blood
24	chr22:31965200-31977200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr22:31965200-31977400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr22:31965200-31977600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr22:31965600-31976400	Strong transcription	Fetal Stomach	stomach
28	chr22:31965800-31976600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr22:31966200-31976400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr22:31966400-31976800	Strong transcription	Thymus	Thymus
31	chr22:31967000-31977200	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr22:31967000-31977600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr22:31967000-31985400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr22:31967200-31981000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr22:31967800-31977200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr22:31968600-31976400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr22:31968600-31977200	Strong transcription	Dnd41	blood
38	chr22:31968800-31986200	Strong transcription	Fetal Thymus	thymus
39	chr22:31968800-32003800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr22:31969000-31976400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr22:31970400-31977800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr22:31970600-31980000	Weak transcription	Fetal Lung	lung
43	chr22:31970600-31980600	Weak transcription	Brain Angular Gyrus	brain
44	chr22:31970600-31980800	Weak transcription	Colon Smooth Muscle	Colon
45	chr22:31970600-31981400	Weak transcription	Pancreas	Pancrea
46	chr22:31970800-31979400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr22:31970800-31979800	Weak transcription	Osteobl	bone
48	chr22:31971400-31982000	Weak transcription	Gastric	stomach
49	chr22:31971600-31981200	Weak transcription	HMEC	breast
50	chr22:31971800-31979800	Weak transcription	NH-A	brain

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