Variant report

Variant	rs73301259
Chromosome Location	chr12:49930806-49930807
allele	G/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	ZNF263	chr12:49929919-49930861	HEK293-T-REx	kidney:	n/a	chr12:49930422-49930443
2	BCL3	chr12:49930560-49930919	GM12878	blood:	n/a	n/a
3	SPI1	chr12:49930297-49930847	HL-60	blood:	n/a	n/a
4	POLR2A	chr12:49930766-49930844	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:49668500..49671128-chr12:49928861..49931681,2	MCF-7	breast:
2	chr12:49759022..49764027-chr12:49928293..49932911,8	MCF-7	breast:
3	chr12:49759326..49761606-chr12:49928836..49931818,3	MCF-7	breast:
4	chr12:49657477..49660356-chr12:49930384..49933439,3	K562	blood:

Variant related genes	Relation type
KCNH3	TF binding region
ENSG00000167553	Chromatin interaction
ENSG00000123352	Chromatin interaction
ENSG00000258101	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11169048	1.00[ASN][1000 genomes]
rs11169049	1.00[ASN][1000 genomes]
rs11169058	1.00[ASN][1000 genomes]
rs11169059	1.00[ASN][1000 genomes]
rs12296440	1.00[ASN][1000 genomes]
rs12300817	1.00[ASN][1000 genomes]
rs12305716	1.00[ASN][1000 genomes]
rs12309053	1.00[ASN][1000 genomes]
rs12314428	1.00[ASN][1000 genomes]
rs12315996	1.00[ASN][1000 genomes]
rs12316170	1.00[ASN][1000 genomes]
rs12318633	1.00[ASN][1000 genomes]
rs12322561	1.00[ASN][1000 genomes]
rs12322571	1.00[ASN][1000 genomes]
rs2272478	1.00[ASN][1000 genomes]
rs57200170	1.00[ASN][1000 genomes]
rs60808917	1.00[ASN][1000 genomes]
rs7294648	1.00[ASN][1000 genomes]
rs7294973	1.00[ASN][1000 genomes]
rs73301240	1.00[ASN][1000 genomes]
rs7976165	1.00[ASN][1000 genomes]
rs9919739	0.83[ASN][1000 genomes]
rs9919740	0.83[ASN][1000 genomes]
rs9919807	0.83[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	nsv899070	chr12:49811311-49941500	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv832406	chr12:49860693-50062136	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv482795	chr12:49897633-50068686	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv1801776	chr12:49915354-49934565	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv899071	chr12:49927148-49955935	Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49914400-49931400	Weak transcription	Pancreas	Pancrea
2	chr12:49916400-49931200	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr12:49917600-49931200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr12:49920000-49931200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr12:49920200-49931400	Weak transcription	Brain Anterior Caudate	brain
6	chr12:49920600-49931200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:49920600-49931400	Weak transcription	Spleen	Spleen
8	chr12:49921800-49931200	Weak transcription	Right Ventricle	heart
9	chr12:49922000-49931200	Weak transcription	HSMMtube	muscle
10	chr12:49927400-49931200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:49928800-49931200	Enhancers	Primary B cells from cord blood	blood
12	chr12:49929600-49931200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:49929600-49931400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:49929600-49931600	Enhancers	HMEC	breast
15	chr12:49929600-49931600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr12:49929800-49931000	Enhancers	NHEK	skin
17	chr12:49929800-49931400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
18	chr12:49929800-49931400	Enhancers	A549	lung
19	chr12:49930000-49931200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:49930000-49931200	Enhancers	GM12878-XiMat	blood
21	chr12:49930200-49931200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr12:49930200-49931400	Weak transcription	Esophagus	oesophagus
23	chr12:49930400-49931000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
24	chr12:49930400-49931400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr12:49930600-49931400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:49930600-49931400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
27	chr12:49930800-49931200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:49930800-49931400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr12:49930800-49931400	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr12:49930800-49931400	Bivalent Enhancer	Fetal Stomach	stomach
31	chr12:49930800-49931400	Weak transcription	Hela-S3	cervix

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