Variant report

Variant	rs73919930
Chromosome Location	chr2:20793367-20793368
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	FOXA2	chr2:20792791-20793684	HepG2	liver:	n/a	n/a
2	MAZ	chr2:20792978-20793613	K562	blood:	n/a	chr2:20793411-20793420
3	FOS	chr2:20792857-20793591	MCF10A-Er-Src	breast:	n/a	chr2:20793410-20793421 chr2:20793411-20793421 chr2:20793412-20793421 chr2:20793410-20793422
4	EGR1	chr2:20793056-20793644	K562	blood:	n/a	chr2:20793329-20793342
5	NR3C1	chr2:20792744-20793555	A549	lung:	n/a	chr2:20793274-20793300 chr2:20793274-20793300 chr2:20793274-20793300 chr2:20793280-20793294 chr2:20793274-20793300 chr2:20793278-20793295
6	POLR2A	chr2:20792857-20793666	HepG2	liver:	n/a	n/a
7	ELF1	chr2:20792728-20793633	HepG2	liver:	n/a	n/a
8	CEBPB	chr2:20792973-20793560	HepG2	liver:	n/a	n/a
9	CBX3	chr2:20792844-20793680	K562	blood:	n/a	n/a
10	NR2F2	chr2:20792955-20793650	K562	blood:	n/a	chr2:20793427-20793442
11	EP300	chr2:20792392-20793681	HepG2	liver:	n/a	chr2:20793389-20793402
12	CEBPB	chr2:20792788-20793640	HepG2	liver:	n/a	n/a
13	FOSL2	chr2:20792848-20793737	MCF-7	breast:	n/a	chr2:20793411-20793421 chr2:20793412-20793421 chr2:20793410-20793422
14	NR2F2	chr2:20792896-20793779	MCF-7	breast:	n/a	chr2:20793427-20793442
15	REST	chr2:20793318-20793594	PANC-1	pancreas:	n/a	n/a
16	JUND	chr2:20792856-20793592	HepG2	liver:	n/a	chr2:20793411-20793421 chr2:20793412-20793421 chr2:20793410-20793421 chr2:20793410-20793422
17	JUN	chr2:20793227-20793584	K562	blood:	n/a	chr2:20793411-20793421 chr2:20793412-20793421 chr2:20793410-20793422
18	TCF12	chr2:20793083-20793564	A549	lung:	n/a	chr2:20793540-20793550 chr2:20793531-20793541
19	YY1	chr2:20793070-20793630	K562	blood:	n/a	n/a
20	MAX	chr2:20792845-20793756	A549	lung:	n/a	chr2:20793411-20793420
21	TEAD4	chr2:20793270-20793698	K562	blood:	n/a	n/a
22	FOXA1	chr2:20792833-20793733	HepG2	liver:	n/a	n/a
23	JUND	chr2:20793116-20793640	A549	lung:	n/a	chr2:20793411-20793421 chr2:20793412-20793421 chr2:20793410-20793421 chr2:20793410-20793422
24	TCF7L2	chr2:20792999-20793750	HepG2	liver:	n/a	chr2:20793412-20793421
25	MAFF	chr2:20793282-20793502	K562	blood:	n/a	n/a
26	NFIC	chr2:20792094-20793837	HepG2	liver:	n/a	n/a
27	POLR2A	chr2:20791687-20794320	HepG2	liver:	n/a	n/a
28	SP1	chr2:20792935-20793847	A549	lung:	n/a	n/a
29	EGR1	chr2:20793141-20793589	K562	blood:	n/a	chr2:20793329-20793342
30	MAX	chr2:20792640-20793922	A549	lung:	n/a	chr2:20793411-20793420
31	HEY1	chr2:20793225-20793476	K562	blood:	n/a	n/a
32	MYC	chr2:20792850-20793513	MCF10A-Er-Src	breast:	n/a	chr2:20793411-20793420
33	MXI1	chr2:20792316-20793801	HepG2	liver:	n/a	n/a
34	TBL1XR1	chr2:20793136-20793556	K562	blood:	n/a	n/a
35	FOS	chr2:20793222-20793604	HUVEC	blood vessel:	n/a	chr2:20793410-20793421 chr2:20793411-20793421 chr2:20793412-20793421 chr2:20793410-20793422
36	BHLHE40	chr2:20792294-20793718	HepG2	liver:	n/a	n/a
37	MYC	chr2:20792850-20793550	MCF10A-Er-Src	breast:	n/a	chr2:20793411-20793420
38	ARID3A	chr2:20792593-20793685	HepG2	liver:	n/a	n/a
39	MAZ	chr2:20792685-20793948	IMR90	lung:	n/a	chr2:20793411-20793420
40	MAFK	chr2:20792998-20793586	IMR90	lung:	n/a	n/a
41	RXRA	chr2:20792773-20793734	HepG2	liver:	n/a	chr2:20793575-20793594
42	FOSL2	chr2:20793137-20793665	SK-N-SH	brain:	n/a	chr2:20793411-20793421 chr2:20793412-20793421 chr2:20793410-20793422
43	EP300	chr2:20792995-20793756	A549	lung:	n/a	chr2:20793389-20793402
44	MAFK	chr2:20793000-20793631	HepG2	liver:	n/a	n/a
45	TCF7L2	chr2:20793251-20793655	Hela-S3	cervix:	n/a	chr2:20793412-20793421
46	MAZ	chr2:20792854-20793719	HepG2	liver:	n/a	chr2:20793411-20793420
47	RAD21	chr2:20792808-20793748	HepG2	liver:	n/a	n/a
48	ZBTB7A	chr2:20793226-20793598	K562	blood:	n/a	n/a
49	TCF12	chr2:20792822-20793846	A549	lung:	n/a	chr2:20793540-20793550 chr2:20793531-20793541
50	TEAD4	chr2:20793078-20793653	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:20772318..20774948-chr2:20792924..20794926,2	K562	blood:
2	chr2:20644797..20655251-chr2:20787626..20802274,53	MCF-7	breast:
3	chr2:20686409..20689229-chr2:20793037..20794863,2	MCF-7	breast:
4	chr2:20694947..20697605-chr2:20792933..20794613,2	MCF-7	breast:
5	chr2:20785265..20787033-chr2:20792935..20794883,2	MCF-7	breast:
6	chr2:20783982..20787771-chr2:20790367..20794656,9	K562	blood:
7	chr2:20792169..20793794-chr2:20803902..20806488,2	K562	blood:
8	chr2:20784163..20786583-chr2:20792834..20795600,2	MCF-7	breast:
9	chr2:20689974..20693202-chr2:20793219..20795538,3	MCF-7	breast:
10	chr2:20792451..20795082-chr2:20807654..20810315,4	MCF-7	breast:
11	chr2:20644186..20651576-chr2:20790196..20799394,18	MCF-7	breast:

Variant related genes	Relation type
HS1BP3-IT1	TF binding region
ENSG00000143878	Chromatin interaction
ENSG00000233416	Chromatin interaction
ENSG00000269976	Chromatin interaction
ENSG00000228950	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs28488411	0.82[AFR][1000 genomes]
rs28529647	0.82[AFR][1000 genomes]
rs28600892	0.82[AFR][1000 genomes]
rs28642817	0.82[AFR][1000 genomes]
rs55793738	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57360378	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58726406	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59300971	0.81[AFR][1000 genomes]
rs59618840	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59771803	0.88[AFR][1000 genomes]
rs60631754	0.81[EUR][1000 genomes]
rs60759855	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61272752	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62124220	0.97[EUR][1000 genomes]
rs62124225	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62124226	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62124227	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62124228	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62124229	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62124230	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62124231	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62124232	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62124234	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62125670	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62125672	0.81[EUR][1000 genomes]
rs7340497	0.89[AFR][1000 genomes]
rs73916905	0.90[EUR][1000 genomes]
rs73919915	0.81[AFR][1000 genomes]
rs73919918	0.85[AFR][1000 genomes]
rs73919920	0.88[AFR][1000 genomes]
rs73919921	0.88[AFR][1000 genomes]
rs73919922	0.88[AFR][1000 genomes]
rs73919923	0.86[AFR][1000 genomes]
rs73919924	0.88[AFR][1000 genomes]
rs73919926	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73919928	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7564684	0.88[AFR][1000 genomes]
rs7574045	0.88[AFR][1000 genomes]
rs7588678	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7595132	0.92[AFR][1000 genomes]
rs7601273	0.88[AFR][1000 genomes]
rs896737	0.87[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	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv833548	chr2:20682073-20864078	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1012037	chr2:20770850-20824893	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535598	chr2:20770850-20824893	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv581167	chr2:20791125-20827846	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20784600-20794200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:20785000-20796000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:20785800-20794600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:20785800-20795200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:20785800-20796000	Weak transcription	Aorta	Aorta
6	chr2:20786000-20794200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:20786000-20795200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:20786200-20797600	Weak transcription	Psoas Muscle	Psoas
9	chr2:20786800-20793400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:20787200-20800200	Enhancers	Right Ventricle	heart
11	chr2:20787400-20794800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:20788400-20794200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:20788400-20794200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:20789000-20794000	Enhancers	NHEK	skin
15	chr2:20789000-20798200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:20789200-20797000	Enhancers	Spleen	Spleen
17	chr2:20789200-20800400	Enhancers	Placenta	Placenta
18	chr2:20789400-20795400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:20790200-20797800	Enhancers	Fetal Intestine Large	intestine
20	chr2:20790400-20793600	Enhancers	Fetal Intestine Small	intestine
21	chr2:20790800-20801200	Enhancers	Adipose Nuclei	Adipose
22	chr2:20791000-20794200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:20791200-20793800	Weak transcription	Brain Angular Gyrus	brain
24	chr2:20791200-20794800	Weak transcription	Brain Anterior Caudate	brain
25	chr2:20791200-20794800	Weak transcription	Brain Substantia Nigra	brain
26	chr2:20791200-20795000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr2:20791200-20795200	Weak transcription	Esophagus	oesophagus
28	chr2:20791200-20795400	Weak transcription	Fetal Brain Male	brain
29	chr2:20791200-20795600	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:20791200-20796600	Weak transcription	Fetal Heart	heart
31	chr2:20791400-20796600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr2:20791800-20796400	Weak transcription	Pancreas	Pancrea
33	chr2:20791800-20797200	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr2:20791800-20800400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr2:20792000-20794200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:20792000-20797800	Enhancers	HSMM	muscle
37	chr2:20792000-20798200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr2:20792200-20793600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:20792200-20794000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:20792200-20794400	Enhancers	HMEC	breast
41	chr2:20792200-20797800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:20792200-20797800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:20792200-20797800	Enhancers	NH-A	brain
44	chr2:20792200-20798200	Enhancers	Ovary	ovary
45	chr2:20792400-20794200	Enhancers	HSMMtube	muscle
46	chr2:20792400-20794600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:20792400-20794800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr2:20792400-20797600	Enhancers	A549	lung
49	chr2:20792400-20797800	Enhancers	Lung	lung
50	chr2:20792400-20797800	Enhancers	NHLF	lung

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