Variant report

Variant	rs12454936
Chromosome Location	chr18:9134438-9134439
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr18:9134266-9138689	GM12891	blood:	n/a	n/a
2	POLR2A	chr18:9134233-9137017	K562	blood:	n/a	n/a
3	STAT3	chr18:9134359-9134559	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr18:9134402-9137098	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9100057..9106592-chr18:9133189..9143801,32	K562	blood:
2	chr18:9115829..9117482-chr18:9134395..9136348,2	MCF-7	breast:
3	chr18:9117343..9120126-chr18:9132921..9134783,2	K562	blood:
4	chr18:8608734..8611272-chr18:9134054..9137046,2	K562	blood:
5	chr18:8998776..9001025-chr18:9134004..9135703,2	K562	blood:
6	chr18:9099316..9108402-chr18:9132066..9139576,22	K562	blood:
7	chr18:9100237..9107287-chr18:9132588..9139279,23	MCF-7	breast:
8	chr18:9117343..9119164-chr18:9132921..9135865,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000266053	TF binding region
ANKRD12	TF binding region
ENSG00000178127	Chromatin interaction
ENSG00000206418	Chromatin interaction
ENSG00000265257	Chromatin interaction
ENSG00000263847	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10502390	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10853373	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11081459	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11081463	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11660889	0.90[AMR][1000 genomes]
rs11661921	0.80[AMR][1000 genomes]
rs11663175	0.90[AMR][1000 genomes]
rs11663949	0.87[AMR][1000 genomes]
rs11872176	0.84[AMR][1000 genomes]
rs11872481	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11875086	0.90[AMR][1000 genomes]
rs11876775	0.90[AMR][1000 genomes]
rs11876821	0.90[AMR][1000 genomes]
rs11877843	0.90[AMR][1000 genomes]
rs12454025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12454908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12455304	0.81[AMR][1000 genomes]
rs12457266	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12457429	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12966444	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12966775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12968060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35002591	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35587943	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35774167	0.93[AMR][1000 genomes]
rs35849084	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs41274300	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62085924	0.84[AMR][1000 genomes]
rs62085926	0.84[AMR][1000 genomes]
rs6506641	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71362073	0.84[AMR][1000 genomes]
rs7226632	0.90[AMR][1000 genomes]
rs7229685	0.81[AMR][1000 genomes]
rs8085549	0.82[AMR][1000 genomes]
rs8085669	0.87[AMR][1000 genomes]
rs8089577	0.84[AMR][1000 genomes]
rs8090297	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8095601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1056258	chr18:9094498-9181498	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv909364	chr18:9114096-9186684	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv543641	chr18:9120450-9181498	Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv543642	chr18:9133164-9191739	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9107000-9135200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr18:9107400-9135400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:9107800-9134600	Weak transcription	Fetal Brain Male	brain
4	chr18:9115400-9134600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr18:9115800-9134800	Strong transcription	Dnd41	blood
6	chr18:9116800-9135200	Strong transcription	Fetal Thymus	thymus
7	chr18:9117200-9134800	Weak transcription	Brain Germinal Matrix	brain
8	chr18:9117400-9135200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr18:9117400-9135600	Weak transcription	Esophagus	oesophagus
10	chr18:9117400-9135800	Weak transcription	Gastric	stomach
11	chr18:9117600-9134800	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr18:9117600-9135200	Weak transcription	Psoas Muscle	Psoas
13	chr18:9117600-9135800	Weak transcription	Pancreas	Pancrea
14	chr18:9117800-9135000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr18:9117800-9135600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr18:9117800-9135800	Weak transcription	Small Intestine	intestine
17	chr18:9118200-9135000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr18:9118600-9134600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr18:9118600-9135000	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr18:9118800-9135600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr18:9118800-9135600	Weak transcription	Right Ventricle	heart
22	chr18:9119400-9135200	Weak transcription	Stomach Mucosa	stomach
23	chr18:9119800-9135000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr18:9119800-9135400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr18:9120000-9134800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr18:9121200-9135200	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr18:9121200-9135200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr18:9121400-9134800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr18:9121800-9134800	Strong transcription	Primary B cells from peripheral blood	blood
30	chr18:9122400-9134600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr18:9122800-9134800	Strong transcription	NHDF-Ad	bronchial
32	chr18:9124000-9135600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr18:9125000-9134600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr18:9125000-9134800	Strong transcription	Placenta	Placenta
35	chr18:9125000-9135000	Strong transcription	GM12878-XiMat	blood
36	chr18:9125200-9135000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr18:9125200-9135600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr18:9125400-9134600	Strong transcription	Primary B cells from cord blood	blood
39	chr18:9125400-9134800	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr18:9125800-9134600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr18:9126400-9134800	Strong transcription	Adipose Nuclei	Adipose
42	chr18:9126800-9135000	Strong transcription	Fetal Muscle Trunk	muscle
43	chr18:9127600-9135400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr18:9127800-9135200	Weak transcription	Spleen	Spleen
45	chr18:9128000-9135200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr18:9128000-9135600	Weak transcription	Brain Angular Gyrus	brain
47	chr18:9128000-9135600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr18:9128600-9135800	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr18:9129000-9135400	Weak transcription	Fetal Kidney	kidney
50	chr18:9129200-9135000	Weak transcription	Brain Inferior Temporal Lobe	brain

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