Variant report

Variant	rs57692322
Chromosome Location	chr18:12411065-12411066
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12407594..12413164-chr18:12414407..12422412,12	MCF-7	breast:
2	chr18:12410197..12415577-chr18:12418474..12421681,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141391	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1116261	1.00[EUR][1000 genomes]
rs1785314	1.00[EUR][1000 genomes]
rs28552823	1.00[EUR][1000 genomes]
rs28662344	1.00[EUR][1000 genomes]
rs34609495	1.00[EUR][1000 genomes]
rs544731	1.00[EUR][1000 genomes]
rs556661	1.00[EUR][1000 genomes]
rs559719	1.00[EUR][1000 genomes]
rs56079355	1.00[EUR][1000 genomes]
rs58670524	1.00[EUR][1000 genomes]
rs58875261	1.00[EUR][1000 genomes]
rs7228939	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73401973	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73413050	1.00[EUR][1000 genomes]
rs8093092	1.00[EUR][1000 genomes]
rs8098094	1.00[EUR][1000 genomes]
rs9948060	1.00[EUR][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	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	esv2758471	chr18:12240681-12499525	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	esv2758714	chr18:12240681-12499525	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv576496	chr18:12247872-12490502	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
7	nsv1060808	chr18:12302792-12514417	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
10	nsv909404	chr18:12409955-12438402	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12408600-12419600	Weak transcription	Thymus	Thymus
2	chr18:12408800-12415000	Weak transcription	Ovary	ovary
3	chr18:12408800-12415600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr18:12408800-12415600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr18:12408800-12415800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr18:12408800-12415800	Weak transcription	Left Ventricle	heart
7	chr18:12408800-12417800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr18:12408800-12419800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr18:12408800-12419800	Weak transcription	Pancreas	Pancrea
10	chr18:12409000-12411200	Enhancers	K562	blood
11	chr18:12409000-12411600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr18:12409000-12414000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr18:12409000-12414000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr18:12409000-12415800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr18:12409000-12415800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr18:12409000-12415800	Weak transcription	Fetal Intestine Small	intestine
17	chr18:12409000-12415800	Weak transcription	Fetal Lung	lung
18	chr18:12409000-12416000	Weak transcription	Aorta	Aorta
19	chr18:12409000-12416000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr18:12409000-12417600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr18:12409000-12419600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr18:12409000-12419800	Weak transcription	Colonic Mucosa	Colon
23	chr18:12409000-12419800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr18:12409000-12419800	Weak transcription	Fetal Kidney	kidney
25	chr18:12409000-12419800	Weak transcription	Fetal Thymus	thymus
26	chr18:12409200-12414000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr18:12409200-12414200	Weak transcription	Brain Anterior Caudate	brain
28	chr18:12409200-12415600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr18:12409200-12415800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr18:12409200-12418400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr18:12409800-12413600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr18:12409800-12414000	Weak transcription	Adipose Nuclei	Adipose
33	chr18:12409800-12415600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr18:12409800-12418000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr18:12409800-12419800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr18:12410000-12415600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr18:12410000-12415600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr18:12410200-12411600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr18:12410200-12414200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr18:12410200-12419800	Weak transcription	NH-A	brain
41	chr18:12410400-12411600	Weak transcription	Lung	lung
42	chr18:12410400-12411600	Enhancers	Hela-S3	cervix
43	chr18:12410400-12413800	Weak transcription	Brain Hippocampus Middle	brain
44	chr18:12410400-12414000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr18:12410400-12414200	Weak transcription	Brain Angular Gyrus	brain
46	chr18:12410400-12415600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr18:12410400-12415600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr18:12410400-12415600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr18:12410400-12415600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr18:12410400-12415800	Weak transcription	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links