Variant report

Variant	rs73881482
Chromosome Location	chr22:30971606-30971607
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	POLR2A	chr22:30970774-30973067	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr22:30970970-30972658	K562	blood:	n/a	n/a
3	POLR2A	chr22:30970702-30971836	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr22:30970965-30972203	GM12878	blood:	n/a	n/a
5	POLR2A	chr22:30970772-30972180	GM12891	blood:	n/a	n/a
6	GATA3	chr22:30971028-30971803	SK-N-SH	brain:	n/a	n/a
7	TEAD4	chr22:30971094-30971728	SK-N-SH	brain:	n/a	n/a
8	FOSL2	chr22:30971075-30971706	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr22:30971386-30971685	H1-hESC	embryonic stem cell:	n/a	n/a
10	TCF12	chr22:30970983-30971921	SK-N-SH	brain:	n/a	chr22:30971300-30971308 chr22:30971316-30971323 chr22:30971528-30971538 chr22:30971338-30971348 chr22:30971439-30971447 chr22:30971339-30971346
11	POLR2A	chr22:30971552-30972111	GM12878	blood:	n/a	n/a
12	RXRA	chr22:30971101-30971720	SK-N-SH	brain:	n/a	chr22:30971186-30971206 chr22:30971550-30971563 chr22:30971551-30971562 chr22:30971550-30971563
13	GATA3	chr22:30971302-30971645	SH-SY5Y	brain:	n/a	n/a
14	POLR2A	chr22:30970841-30971980	GM12892	blood:	n/a	n/a
15	TEAD4	chr22:30971076-30971689	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr22:30969819-30972027	HepG2	liver:	n/a	n/a
17	MAX	chr22:30971141-30971702	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr22:30971231-30971802	PFSK-1	brain:	n/a	n/a
19	PBX3	chr22:30971080-30971726	SK-N-SH	brain:	n/a	chr22:30971151-30971160 chr22:30971138-30971158
20	POLR2A	chr22:30970672-30972299	GM12892	blood:	n/a	n/a
21	POLR2A	chr22:30971011-30971754	A549	lung:	n/a	n/a
22	GATA3	chr22:30971012-30971913	SK-N-SH	brain:	n/a	n/a
23	EP300	chr22:30971015-30971788	SK-N-SH	brain:	n/a	chr22:30971314-30971330
24	GATA2	chr22:30971192-30971711	SH-SY5Y	brain:	n/a	n/a
25	POLR2A	chr22:30970851-30972204	GM12892	blood:	n/a	n/a
26	POLR2A	chr22:30971069-30971945	K562	blood:	n/a	n/a
27	POLR2A	chr22:30970912-30972354	HL-60	blood:	n/a	n/a
28	POLR2A	chr22:30971168-30971655	U87	brain:	n/a	n/a
29	MAX	chr22:30971176-30971707	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr22:30970729-30972168	GM12878	blood:	n/a	n/a
31	POLR2A	chr22:30970953-30972323	HL-60	blood:	n/a	n/a
32	POLR2A	chr22:30970707-30972267	K562	blood:	n/a	n/a
33	POLR2A	chr22:30970689-30972410	GM12892	blood:	n/a	n/a
34	POLR2A	chr22:30970743-30971760	U87	brain:	n/a	n/a
35	POLR2A	chr22:30970664-30972633	GM12878	blood:	n/a	n/a
36	POLR2A	chr22:30970748-30972829	K562	blood:	n/a	n/a
37	POLR2A	chr22:30970686-30972107	SK-N-MC	brain:	n/a	n/a
38	POLR2A	chr22:30970945-30972268	GM12891	blood:	n/a	n/a
39	TCF12	chr22:30971001-30971763	SK-N-SH	brain:	n/a	chr22:30971300-30971308 chr22:30971316-30971323 chr22:30971528-30971538 chr22:30971338-30971348 chr22:30971439-30971447 chr22:30971339-30971346
40	POLR2A	chr22:30971451-30971681	HUVEC	blood vessel:	n/a	n/a
41	PBX3	chr22:30971031-30971739	SK-N-SH	brain:	n/a	chr22:30971151-30971160 chr22:30971138-30971158
42	POLR2A	chr22:30971526-30971631	A549	lung:	n/a	n/a
43	POLR2A	chr22:30970933-30972197	K562	blood:	n/a	n/a
44	NFIC	chr22:30970999-30971807	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr22:30971117-30971812	SK-N-SH	brain:	n/a	n/a
46	JUND	chr22:30971058-30971741	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr22:30970897-30972117	GM12891	blood:	n/a	n/a
48	YY1	chr22:30971181-30971706	SK-N-SH	brain:	n/a	chr22:30971386-30971396
49	GATA3	chr22:30971250-30971615	T-47D	breast:	n/a	n/a
50	POLR2A	chr22:30971399-30971939	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30969461..30973158-chr22:30985013..30988022,5	MCF-7	breast:
2	chr22:30964660..30967632-chr22:30970789..30972723,2	MCF-7	breast:
3	chr22:30970968..30972609-chr22:30985302..30987086,2	K562	blood:
4	chr22:30964568..30966833-chr22:30970828..30972723,3	MCF-7	breast:
5	chr22:30968308..30971950-chr22:30982173..30985267,5	K562	blood:
6	chr22:30968228..30973884-chr22:30985019..30988219,5	MCF-7	breast:

Variant related genes	Relation type
GAL3ST1	TF binding region
ENSG00000100029	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11912660	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12484511	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4820017	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4820879	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73881478	0.94[AMR][1000 genomes];0.97[EUR][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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv588887	chr22:30953521-30995356	Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv3377293	chr22:30969852-30971750	Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30964400-30979600	Weak transcription	K562	blood
2	chr22:30968800-30971800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr22:30970000-30977200	Weak transcription	Hela-S3	cervix
4	chr22:30970400-30972000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr22:30970400-30975000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr22:30970400-30975600	Weak transcription	Fetal Brain Male	brain
7	chr22:30970400-30983200	Weak transcription	Fetal Kidney	kidney
8	chr22:30970600-30971800	Enhancers	Liver	Liver
9	chr22:30970800-30972000	Enhancers	Fetal Lung	lung
10	chr22:30970800-30972200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr22:30970800-30972200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr22:30970800-30972200	Weak transcription	NHEK	skin
13	chr22:30970800-30973000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr22:30970800-30973000	Enhancers	Stomach Mucosa	stomach
15	chr22:30970800-30975400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr22:30971000-30971800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr22:30971000-30971800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr22:30971000-30972000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr22:30971000-30972000	Enhancers	HSMMtube	muscle
20	chr22:30971000-30972200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr22:30971000-30972200	Bivalent Enhancer	Fetal Stomach	stomach
22	chr22:30971000-30972200	Enhancers	Right Atrium	heart
23	chr22:30971000-30973000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr22:30971000-30973000	ZNF genes & repeats	Spleen	Spleen
25	chr22:30971000-30980800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr22:30971000-30985600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr22:30971000-30986000	Strong transcription	GM12878-XiMat	blood
28	chr22:30971000-30987200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr22:30971200-30971800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr22:30971200-30971800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr22:30971200-30971800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr22:30971200-30971800	Weak transcription	Primary B cells from cord blood	blood
33	chr22:30971200-30971800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr22:30971200-30971800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr22:30971200-30971800	Enhancers	Aorta	Aorta
36	chr22:30971200-30971800	Flanking Active TSS	Brain Substantia Nigra	brain
37	chr22:30971200-30971800	Weak transcription	Colon Smooth Muscle	Colon
38	chr22:30971200-30971800	Enhancers	Esophagus	oesophagus
39	chr22:30971200-30971800	Weak transcription	HUVEC	blood vessel
40	chr22:30971200-30971800	Enhancers	Osteobl	bone
41	chr22:30971200-30972000	Enhancers	Colonic Mucosa	Colon
42	chr22:30971200-30972000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
43	chr22:30971200-30972200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr22:30971200-30972200	Genic enhancers	Brain Angular Gyrus	brain
45	chr22:30971200-30972200	Genic enhancers	Right Ventricle	heart
46	chr22:30971200-30972600	Weak transcription	HepG2	liver
47	chr22:30971200-30973200	Genic enhancers	Gastric	stomach
48	chr22:30971200-30973600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr22:30971200-30973600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr22:30971200-30973600	Strong transcription	HMEC	breast

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