Variant report

Variant	rs12432069
Chromosome Location	chr14:35017640-35017641
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:35015331-35018141	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr14:35015246-35018299	MCF-7	breast:	n/a	n/a
3	POLR2A	chr14:35015207-35018135	MCF-7	breast:	n/a	n/a
4	IKZF1	chr14:35016940-35017789	GM12878	blood:	n/a	n/a
5	POLR2A	chr14:35016922-35021427	IMR90	lung:	n/a	n/a

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35016499..35019288-chr14:35182699..35184219,2	MCF-7	breast:
2	chr1:231187611..231189113-chr14:35017121..35018734,3	MCF-7	breast:
3	chr14:35016160..35018954-chr14:35320492..35322117,2	MCF-7	breast:
4	chr14:35016883..35018423-chr14:35574764..35577501,2	MCF-7	breast:
5	chr14:34815903..34818513-chr14:35017360..35019871,2	K562	blood:
6	chr14:35016520..35018363-chr6:90121191..90123487,2	MCF-7	breast:
7	chr1:231188613..231189133-chr14:35017234..35017819,2	MCF-7	breast:
8	chr14:35005284..35011388-chr14:35017198..35025900,23	MCF-7	breast:
9	chr14:34797417..34799654-chr14:35017218..35018796,2	K562	blood:
10	chr14:35004626..35011116-chr14:35015634..35020787,10	MCF-7	breast:
11	chr14:35017275..35019117-chr14:35456494..35458889,2	MCF-7	breast:
12	chr14:35016452..35018611-chr14:35133910..35135545,2	K562	blood:
13	chr14:35017271..35020208-chr14:35082278..35083991,2	MCF-7	breast:
14	chr14:34800052..34803596-chr14:35017115..35019908,4	MCF-7	breast:
15	chr14:35017489..35019232-chr14:35116363..35118749,2	MCF-7	breast:
16	chr14:34836739..34838554-chr14:35017235..35019391,2	MCF-7	breast:
17	chr14:35017186..35019068-chr14:35256724..35258976,2	MCF-7	breast:
18	chr14:35015687..35019377-chr17:57914775..57917596,3	MCF-7	breast:
19	chr14:34930890..34932911-chr14:35017228..35020206,2	K562	blood:
20	chr14:35016252..35019435-chr14:35175626..35179365,3	MCF-7	breast:
21	chr14:35015757..35018418-chr4:39977549..39979834,2	MCF-7	breast:
22	chr14:35005592..35010362-chr14:35016916..35020262,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258612	TF binding region
ENSG00000129521	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000025039	Chromatin interaction
ENSG00000165389	Chromatin interaction
ENSG00000121892	Chromatin interaction
ENSG00000129518	Chromatin interaction
ENSG00000165410	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10131004	0.82[EUR][1000 genomes]
rs10134534	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10136826	0.93[CHB][hapmap]
rs10151832	0.81[CEU][hapmap];0.93[CHB][hapmap];0.86[EUR][1000 genomes]
rs10220690	0.86[CHB][hapmap]
rs10872887	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11156850	0.81[CEU][hapmap];0.93[CHB][hapmap];0.85[EUR][1000 genomes]
rs12147164	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12432539	0.93[CHB][hapmap]
rs12717240	0.92[CHB][hapmap]
rs12880885	0.93[CHB][hapmap]
rs12883317	0.81[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12885600	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12886486	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28537636	0.85[EUR][1000 genomes]
rs4304943	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4403967	0.93[CHB][hapmap]
rs4453379	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4562976	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4567613	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4598814	0.93[CHB][hapmap]
rs4981244	0.86[CHB][hapmap]
rs55938117	0.86[EUR][1000 genomes]
rs60370017	0.83[EUR][1000 genomes]
rs6571659	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6571661	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6571662	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6571664	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7146283	0.93[CHB][hapmap]
rs7149200	0.93[CHB][hapmap]
rs7151142	0.90[CEU][hapmap];0.93[CHB][hapmap];0.84[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7151482	0.90[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7151774	0.93[CHB][hapmap]
rs7153635	0.90[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7154505	0.90[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7155411	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7158783	0.93[CHB][hapmap]
rs72673455	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72675226	0.86[EUR][1000 genomes]
rs72675236	0.86[EUR][1000 genomes]
rs8010374	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs8012555	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8013554	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8013954	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8018918	0.85[EUR][1000 genomes]
rs8019311	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8019739	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1048408	chr14:34958352-35255592	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1049048	chr14:34969406-35048672	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv1042294	chr14:34974774-35017859	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1053274	chr14:34980184-35020973	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1037503	chr14:34980184-35027115	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
7	nsv564194	chr14:34985645-35029396	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
8	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
9	esv2761826	chr14:35009633-35027508	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
10	nsv9132	chr14:35016506-35019740	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35009000-35033000	Weak transcription	Gastric	stomach
2	chr14:35009600-35022200	Weak transcription	Fetal Intestine Large	intestine
3	chr14:35009600-35023800	Weak transcription	Right Atrium	heart
4	chr14:35017000-35017800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr14:35017000-35017800	Enhancers	Primary B cells from peripheral blood	blood
6	chr14:35017000-35018000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr14:35017000-35018000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:35017000-35018000	Enhancers	Spleen	Spleen
9	chr14:35017000-35018200	Enhancers	Fetal Thymus	thymus
10	chr14:35017000-35018400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr14:35017000-35019000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr14:35017000-35020400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr14:35017000-35020400	Enhancers	Dnd41	blood
14	chr14:35017200-35017800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:35017200-35018000	Enhancers	Primary T cells fromperipheralblood	blood
16	chr14:35017200-35018000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr14:35017200-35018000	Enhancers	Brain Germinal Matrix	brain
18	chr14:35017200-35018200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:35017200-35018400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr14:35017200-35019200	Enhancers	Liver	Liver
21	chr14:35017400-35017800	Enhancers	Thymus	Thymus
22	chr14:35017400-35018000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr14:35017400-35018000	Active TSS	Hela-S3	cervix
24	chr14:35017400-35018000	Enhancers	HepG2	liver
25	chr14:35017400-35018200	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr14:35017400-35019000	Weak transcription	Fetal Brain Male	brain
27	chr14:35017400-35023200	Weak transcription	Fetal Intestine Small	intestine
28	chr14:35017400-35023400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr14:35017400-35023400	Weak transcription	Fetal Muscle Leg	muscle
30	chr14:35017400-35023400	Weak transcription	Pancreas	Pancrea
31	chr14:35017400-35023400	Weak transcription	A549	lung
32	chr14:35017400-35023400	Weak transcription	K562	blood
33	chr14:35017400-35023600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr14:35017400-35023800	Weak transcription	Primary B cells from cord blood	blood
35	chr14:35017400-35023800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:35017400-35023800	Weak transcription	Brain Hippocampus Middle	brain
37	chr14:35017400-35036000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr14:35017600-35017800	Enhancers	Brain Cingulate Gyrus	brain
39	chr14:35017600-35018000	Enhancers	Primary T cells from cord blood	blood
40	chr14:35017600-35018000	Enhancers	Primary hematopoietic stem cells	blood
41	chr14:35017600-35018200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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