Variant report

Variant	rs1830425
Chromosome Location	chr11:18419432-18419433
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:18419429-18419495	ProgFib	skin:	n/a	n/a
2	POLR2A	chr11:18415374-18419965	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr11:18419404-18419938	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:18418962-18419495	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:18418587-18420029	A549	lung:	n/a	n/a
6	HEY1	chr11:18419211-18422587	HepG2	liver:	n/a	n/a
7	POLR2A	chr11:18418987-18419443	K562	blood:	n/a	n/a
8	POLR2A	chr11:18415356-18422999	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr11:18419260-18422165	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr11:18419345-18419805	K562	blood:	n/a	n/a
11	POLR2A	chr11:18418927-18419830	K562	blood:	n/a	n/a
12	POLR2A	chr11:18415438-18420199	IMR90	lung:	n/a	n/a
13	POLR2A	chr11:18415270-18432749	U87	brain:	n/a	n/a
14	POLR2A	chr11:18419212-18420062	HepG2	liver:	n/a	n/a
15	POLR2A	chr11:18419064-18420036	HepG2	liver:	n/a	n/a
16	POLR2A	chr11:18419278-18420079	HepG2	liver:	n/a	n/a
17	POLR2A	chr11:18419035-18419987	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr11:18415437-18420128	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr11:18415524-18420304	U87	brain:	n/a	n/a
20	POLR2A	chr11:18415312-18424472	HepG2	liver:	n/a	n/a
21	POLR2A	chr11:18415489-18420124	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:18415373-18432749	U87	brain:	n/a	n/a
23	POLR2A	chr11:18419354-18419932	HepG2	liver:	n/a	n/a
24	POLR2A	chr11:18419297-18419912	HCT-116	colon:	n/a	n/a
25	POLR2A	chr11:18415580-18422609	U87	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:18415873..18420206-chr11:18430045..18435036,6	MCF-7	breast:
2	chr11:18416584..18419436-chr12:7046184..7047780,2	K562	blood:
3	chr11:18340586..18347042-chr11:18413380..18419628,16	K562	blood:
4	chr11:18342491..18345045-chr11:18415566..18419495,5	MCF-7	breast:
5	chr11:18414611..18420404-chr11:18425224..18433817,11	K562	blood:

No data

Variant related genes	Relation type
LDHA	TF binding region
ENSG00000166796	Chromatin interaction
ENSG00000110768	Chromatin interaction
ENSG00000256006	Chromatin interaction
ENSG00000111676	Chromatin interaction
ENSG00000110756	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10766473	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10766476	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10832926	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11024636	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2403278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2403280	0.91[AMR][1000 genomes]
rs2403298	0.87[AMR][1000 genomes]
rs3758681	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3758683	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6486422	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6486423	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6486424	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7129689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7925445	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7938267	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7938942	0.87[AMR][1000 genomes]
rs7943847	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7946331	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][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	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats 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 miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv933836	chr11:18300254-18440933	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
4	nsv1047049	chr11:18359702-18520008	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv540955	chr11:18359702-18520008	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	esv1811183	chr11:18389643-18432437	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18416200-18419800	Transcr. at gene 5' and 3'	A549	lung
2	chr11:18416200-18419800	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr11:18416800-18421000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr11:18418000-18420000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:18418000-18420000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:18418000-18420200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
7	chr11:18418000-18422200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
8	chr11:18418200-18419600	Weak transcription	Aorta	Aorta
9	chr11:18418200-18419600	Weak transcription	Gastric	stomach
10	chr11:18418200-18419800	Genic enhancers	Sigmoid Colon	Sigmoid Colon
11	chr11:18418200-18420000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:18418200-18420600	Weak transcription	Pancreas	Pancrea
13	chr11:18418200-18425600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:18418200-18433800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:18418400-18419600	Enhancers	Fetal Heart	heart
16	chr11:18418400-18419800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
17	chr11:18418400-18419800	Genic enhancers	Colon Smooth Muscle	Colon
18	chr11:18418400-18420000	Transcr. at gene 5' and 3'	HepG2	liver
19	chr11:18418400-18420400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:18418400-18420800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr11:18418400-18421000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:18418400-18421800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr11:18418400-18422200	Strong transcription	Esophagus	oesophagus
24	chr11:18418400-18430600	Strong transcription	Fetal Muscle Trunk	muscle
25	chr11:18418400-18430800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:18418400-18430800	Strong transcription	Left Ventricle	heart
27	chr11:18418400-18433200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr11:18418600-18419600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:18418600-18419600	Genic enhancers	NHEK	skin
30	chr11:18418600-18419800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr11:18418600-18419800	Genic enhancers	NHLF	lung
32	chr11:18418600-18420200	Strong transcription	Fetal Kidney	kidney
33	chr11:18418600-18420400	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr11:18418600-18420600	Weak transcription	Fetal Brain Male	brain
35	chr11:18418600-18420800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:18418600-18420800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
37	chr11:18418600-18421200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:18418600-18422400	Strong transcription	Primary B cells from cord blood	blood
39	chr11:18418600-18422600	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr11:18418600-18422600	Strong transcription	Stomach Smooth Muscle	stomach
41	chr11:18418600-18427800	Strong transcription	Liver	Liver
42	chr11:18418600-18428600	Strong transcription	Fetal Intestine Large	intestine
43	chr11:18418600-18429400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
44	chr11:18418600-18429800	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr11:18418600-18430400	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr11:18418600-18430400	Strong transcription	Primary B cells from peripheral blood	blood
47	chr11:18418600-18430400	Strong transcription	Placenta	Placenta
48	chr11:18418600-18430400	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr11:18418600-18430400	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr11:18418600-18430600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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