Variant report

Variant	rs73933225
Chromosome Location	chr19:40735665-40735666
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr19:40734791-40736199	A549	lung:	n/a	n/a
2	POLR2A	chr19:40735414-40735706	HCT-116	colon:	n/a	n/a
3	MEF2A	chr19:40735217-40735801	SK-N-SH	brain:	n/a	chr19:40735435-40735450
4	FOS	chr19:40735318-40735675	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr19:40735433-40735834	K562	blood:	n/a	n/a
6	MEF2A	chr19:40735216-40735685	K562	blood:	n/a	chr19:40735435-40735450
7	TCF7L2	chr19:40735485-40735707	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr19:40735425-40735829	K562	blood:	n/a	n/a
9	POLR2A	chr19:40735006-40736033	Hela-S3	cervix:	n/a	n/a
10	NFIC	chr19:40735249-40735879	SK-N-SH	brain:	n/a	n/a
11	FOSL2	chr19:40735398-40736158	HepG2	liver:	n/a	n/a
12	STAT5A	chr19:40734967-40735986	GM12878	blood:	n/a	n/a
13	POLR2A	chr19:40735407-40735849	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr19:40735587-40735816	HepG2	liver:	n/a	n/a
15	POLR2A	chr19:40734908-40736084	GM12891	blood:	n/a	n/a
16	FOSL2	chr19:40735195-40735902	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr19:40735516-40735724	GM12878	blood:	n/a	n/a
18	POLR2A	chr19:40735567-40735841	GM12878	blood:	n/a	n/a
19	POLR2A	chr19:40735474-40735796	H1-hESC	embryonic stem cell:	n/a	n/a
20	STAT5A	chr19:40735295-40735758	K562	blood:	n/a	n/a
21	NFATC1	chr19:40735382-40736080	GM12878	blood:	n/a	n/a
22	SIN3AK20	chr19:40731136-40743299	PANC-1	pancreas:	n/a	n/a
23	GATA2	chr19:40735380-40735734	K562	blood:	n/a	n/a
24	NFATC1	chr19:40734850-40736047	GM12878	blood:	n/a	n/a
25	FOS	chr19:40735228-40735825	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr19:40735430-40735754	MCF-7	breast:	n/a	n/a
27	POLR2A	chr19:40735338-40735836	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr19:40735442-40735826	GM12892	blood:	n/a	n/a
29	POLR2A	chr19:40735402-40735859	GM12892	blood:	n/a	n/a
30	EGR1	chr19:40735609-40735873	K562	blood:	n/a	n/a
31	POLR2A	chr19:40735253-40736312	PFSK-1	brain:	n/a	n/a
32	FOSL1	chr19:40735429-40735848	K562	blood:	n/a	n/a
33	POLR2A	chr19:40735303-40735966	GM12892	blood:	n/a	n/a
34	POLR2A	chr19:40735338-40735941	GM12891	blood:	n/a	n/a
35	FOSL2	chr19:40735182-40735947	A549	lung:	n/a	n/a
36	POLR2A	chr19:40734911-40735861	K562	blood:	n/a	n/a
37	POLR2A	chr19:40734983-40736721	GM12878	blood:	n/a	n/a
38	FOSL2	chr19:40735395-40735780	A549	lung:	n/a	n/a
39	POLR2A	chr19:40735394-40735860	K562	blood:	n/a	n/a
40	POLR2A	chr19:40735272-40735862	HepG2	liver:	n/a	n/a
41	POLR2A	chr19:40734930-40735964	HCT-116	colon:	n/a	n/a
42	POLR2A	chr19:40734710-40735834	SK-N-MC	brain:	n/a	n/a
43	FOS	chr19:40735319-40735694	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr19:40735205-40736133	GM12891	blood:	n/a	n/a
45	MTA3	chr19:40734847-40736022	GM12878	blood:	n/a	n/a
46	EGR1	chr19:40735603-40735849	K562	blood:	n/a	n/a
47	POLR2A	chr19:40735440-40735762	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr19:40733354-40739269	K562	blood:	n/a	n/a
49	BCL3	chr19:40734834-40736286	A549	lung:	n/a	n/a
50	POLR2A	chr19:40734908-40735844	PFSK-1	brain:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:40735147..40737446-chr19:40752058..40754215,2	MCF-7	breast:
2	chr19:40735441..40737770-chr19:40748131..40750803,2	MCF-7	breast:
3	chr19:40730620..40735723-chr19:40738673..40743679,8	MCF-7	breast:
4	chr19:40734116..40737610-chr19:40738895..40742001,3	MCF-7	breast:

No data

Variant related genes	Relation type
CNTD2	TF binding region
ENSG00000105221	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11666690	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11667443	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11668520	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11669006	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11669332	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11670860	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11670912	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11671439	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17846842	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2356230	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28746190	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35090721	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36058450	0.92[ASN][1000 genomes]
rs3730052	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3730055	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3730262	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs41275746	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41275748	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41275750	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45497695	0.83[EUR][1000 genomes]
rs56672337	0.83[EUR][1000 genomes]
rs58094119	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59058760	0.83[EUR][1000 genomes]
rs59106111	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs66623822	0.83[EUR][1000 genomes]
rs67587726	0.83[EUR][1000 genomes]
rs7247515	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7252506	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73933218	0.92[ASN][1000 genomes]
rs73933232	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73933236	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73933237	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73933238	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73933240	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73933241	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs873143	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs874269	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv911699	chr19:40691632-40816530	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40732200-40737000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:40732400-40740800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:40732600-40737000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr19:40732600-40737400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr19:40732600-40737600	Weak transcription	Brain Anterior Caudate	brain
6	chr19:40732600-40739000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr19:40732600-40740400	Weak transcription	Brain Substantia Nigra	brain
8	chr19:40732800-40737000	Weak transcription	Spleen	Spleen
9	chr19:40732800-40737200	Weak transcription	Brain Hippocampus Middle	brain
10	chr19:40732800-40737400	Weak transcription	Left Ventricle	heart
11	chr19:40732800-40737400	Weak transcription	Right Atrium	heart
12	chr19:40732800-40737600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr19:40732800-40737600	Weak transcription	Lung	lung
14	chr19:40732800-40737600	Weak transcription	Right Ventricle	heart
15	chr19:40732800-40738000	Weak transcription	Ovary	ovary
16	chr19:40732800-40738000	Weak transcription	Pancreas	Pancrea
17	chr19:40732800-40738000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr19:40732800-40738400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr19:40732800-40738600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr19:40732800-40738800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr19:40732800-40739200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr19:40732800-40740800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr19:40732800-40740800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr19:40732800-40740800	Weak transcription	HMEC	breast
25	chr19:40732800-40759000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr19:40733000-40736000	Enhancers	HepG2	liver
27	chr19:40733000-40737000	Weak transcription	Hela-S3	cervix
28	chr19:40733000-40737400	Weak transcription	NHLF	lung
29	chr19:40733000-40737600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr19:40733000-40738000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr19:40733000-40738000	Weak transcription	Dnd41	blood
32	chr19:40733000-40739000	Enhancers	Placenta	Placenta
33	chr19:40733000-40739000	Weak transcription	Gastric	stomach
34	chr19:40733000-40740800	Weak transcription	GM12878-XiMat	blood
35	chr19:40733600-40738000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr19:40733800-40737400	Weak transcription	Fetal Stomach	stomach
37	chr19:40734000-40737600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr19:40734000-40742000	Weak transcription	Small Intestine	intestine
39	chr19:40734200-40737200	Weak transcription	Liver	Liver
40	chr19:40734200-40737400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr19:40734200-40737400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr19:40734200-40737400	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr19:40734200-40738600	Weak transcription	Esophagus	oesophagus
44	chr19:40734200-40739000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr19:40734400-40737400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr19:40734400-40738000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr19:40734400-40738000	Weak transcription	Thymus	Thymus
48	chr19:40734400-40738800	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr19:40734600-40736800	Weak transcription	Fetal Intestine Small	intestine
50	chr19:40734600-40737000	Weak transcription	Fetal Intestine Large	intestine

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