Variant report

Variant	rs74099673
Chromosome Location	chr12:65176203-65176204
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	chr12:65175847-65176486	HUVEC	blood vessel:	n/a	n/a
2	IRF1	chr12:65176126-65176288	K562	blood:	n/a	n/a
3	GATA3	chr12:65175992-65176360	T-47D	breast:	n/a	n/a
4	ZNF384	chr12:65175395-65176401	K562	blood:	n/a	n/a
5	SPI1	chr12:65176046-65176273	K562	blood:	n/a	chr12:65176143-65176152 chr12:65176144-65176151 chr12:65176142-65176155
6	SPI1	chr12:65175983-65176330	HL-60	blood:	n/a	chr12:65176143-65176152 chr12:65176144-65176151 chr12:65176142-65176155
7	ZNF384	chr12:65175374-65176343	GM12878	blood:	n/a	n/a
8	GATA2	chr12:65175996-65176351	K562	blood:	n/a	n/a
9	ZNF263	chr12:65174039-65176453	HEK293-T-REx	kidney:	n/a	chr12:65175304-65175313 chr12:65176038-65176047 chr12:65174516-65174525
10	RCOR1	chr12:65175920-65176325	K562	blood:	n/a	n/a
11	GATA2	chr12:65176024-65176863	HUVEC	blood vessel:	n/a	chr12:65176788-65176804
12	SPI1	chr12:65175931-65176376	HL-60	blood:	n/a	chr12:65176143-65176152 chr12:65176144-65176151 chr12:65176142-65176155
13	ATF1	chr12:65176057-65176283	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:65148774..65157978-chr12:65171970..65176271,20	MCF-7	breast:
2	chr12:65173276..65176941-chr12:65216536..65220643,4	MCF-7	breast:
3	chr12:65176132..65178925-chr12:65182768..65185565,2	MCF-7	breast:

Variant related genes	Relation type
TBC1D30	TF binding region
ENSG00000215159	Chromatin interaction
ENSG00000238592	Chromatin interaction
ENSG00000135677	Chromatin interaction
ENSG00000111490	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17100621	1.00[AMR][1000 genomes]
rs2230292	0.81[AFR][1000 genomes]
rs55747137	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56739324	1.00[AMR][1000 genomes]
rs57495100	0.81[AFR][1000 genomes]
rs58327448	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58606781	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60988778	1.00[AMR][1000 genomes]
rs74098643	0.81[AFR][1000 genomes]
rs74099588	1.00[AMR][1000 genomes]
rs74099656	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74099664	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74099677	0.81[AFR][1000 genomes]
rs74099678	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74099681	1.00[AMR][1000 genomes]
rs74099683	0.82[AFR][1000 genomes]
rs74099686	0.81[AFR][1000 genomes]
rs74099691	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74099695	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1045216	chr12:65009102-65176894	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh 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	15 gene(s)	inside rSNPs	diseases
3	nsv541513	chr12:65009102-65176894	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv469457	chr12:65009243-65195977	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv559204	chr12:65009243-65195977	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer 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 miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv899209	chr12:65068686-65184236	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv899210	chr12:65076498-65184236	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65174000-65176400	Active TSS	Duodenum Mucosa	Duodenum
2	chr12:65174000-65176800	Active TSS	Pancreas	Pancrea
3	chr12:65174000-65177000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr12:65174400-65176400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
5	chr12:65174800-65176400	Active TSS	Right Atrium	heart
6	chr12:65175000-65176600	Flanking Active TSS	HUVEC	blood vessel
7	chr12:65175000-65177000	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr12:65175200-65176400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr12:65175200-65176800	Bivalent/Poised TSS	Fetal Kidney	kidney
10	chr12:65175600-65176400	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:65175600-65176400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr12:65175600-65176400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
13	chr12:65175600-65176400	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr12:65175800-65176600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
15	chr12:65175800-65176600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
16	chr12:65175800-65176600	Flanking Active TSS	Hela-S3	cervix
17	chr12:65175800-65177000	Active TSS	Psoas Muscle	Psoas
18	chr12:65175800-65177200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:65175800-65196000	Weak transcription	Lung	lung
20	chr12:65176000-65176400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:65176000-65176400	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
22	chr12:65176000-65176400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
23	chr12:65176000-65176400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
24	chr12:65176000-65176600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
25	chr12:65176000-65176600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
26	chr12:65176000-65176800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr12:65176000-65176800	Bivalent Enhancer	Fetal Lung	lung
28	chr12:65176000-65176800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr12:65176000-65177000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:65176000-65182600	Weak transcription	Brain Hippocampus Middle	brain
31	chr12:65176200-65176400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:65176200-65176400	Enhancers	Primary B cells from cord blood	blood
33	chr12:65176200-65176400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr12:65176200-65176400	Flanking Active TSS	Stomach Mucosa	stomach
35	chr12:65176200-65176400	Bivalent Enhancer	GM12878-XiMat	blood
36	chr12:65176200-65176600	Enhancers	Spleen	Spleen
37	chr12:65176200-65176800	Active TSS	Fetal Intestine Small	intestine

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