Variant report

Variant	rs7230519
Chromosome Location	chr18:7620107-7620108
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16952302	1.00[AMR][1000 genomes]
rs57233839	1.00[AMR][1000 genomes]
rs73941929	1.00[AMR][1000 genomes]
rs73941931	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73941932	1.00[AMR][1000 genomes]
rs73941936	1.00[AMR][1000 genomes]
rs73941937	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8099533	0.93[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9946371	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9949661	1.00[AMR][1000 genomes]
rs9953865	0.92[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2656232	chr18:7111033-7658679	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1064597	chr18:7169490-7762738	Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv543636	chr18:7169490-7762738	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1063350	chr18:7215275-7659999	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv458016	chr18:7488133-7934001	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv576399	chr18:7488133-7934001	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv2762810	chr18:7492090-7924728	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7614000-7620400	Enhancers	Fetal Lung	lung
2	chr18:7616600-7620400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr18:7617000-7620400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr18:7617000-7622600	Weak transcription	Pancreas	Pancrea
5	chr18:7617000-7624600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr18:7617000-7626200	Weak transcription	Ovary	ovary
7	chr18:7617200-7620400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr18:7617600-7620600	Enhancers	Psoas Muscle	Psoas
9	chr18:7617800-7620600	Enhancers	Fetal Muscle Leg	muscle
10	chr18:7618000-7620200	Enhancers	Colon Smooth Muscle	Colon
11	chr18:7618000-7621600	Enhancers	Right Ventricle	heart
12	chr18:7618200-7620400	Enhancers	Fetal Heart	heart
13	chr18:7618200-7622400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr18:7618200-7622400	Weak transcription	HepG2	liver
15	chr18:7618200-7626400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr18:7618400-7620200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr18:7618400-7620400	Enhancers	Stomach Smooth Muscle	stomach
18	chr18:7618400-7620800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr18:7618600-7620400	Enhancers	Brain Substantia Nigra	brain
20	chr18:7618800-7620400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr18:7618800-7620400	Enhancers	Aorta	Aorta
22	chr18:7618800-7626000	Weak transcription	Liver	Liver
23	chr18:7619000-7621400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr18:7619000-7622200	Weak transcription	HMEC	breast
25	chr18:7619000-7624000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr18:7619000-7626000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr18:7619400-7620200	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr18:7619400-7620400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr18:7619400-7620600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr18:7619600-7620200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr18:7619600-7620200	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr18:7619600-7620200	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr18:7619600-7620200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
34	chr18:7619600-7620200	Enhancers	Esophagus	oesophagus
35	chr18:7619600-7620200	Enhancers	Fetal Stomach	stomach
36	chr18:7619600-7620200	Enhancers	Thymus	Thymus
37	chr18:7619600-7620400	Enhancers	Lung	lung
38	chr18:7619600-7620600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr18:7619600-7620600	Enhancers	Left Ventricle	heart
40	chr18:7619600-7620600	Enhancers	Right Atrium	heart
41	chr18:7619600-7621600	Weak transcription	A549	lung
42	chr18:7619800-7620200	Enhancers	Placenta	Placenta
43	chr18:7619800-7620200	Enhancers	NHEK	skin
44	chr18:7619800-7620400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr18:7619800-7620600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr18:7619800-7622400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr18:7619800-7626400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr18:7620000-7620200	Enhancers	Brain Angular Gyrus	brain
49	chr18:7620000-7620200	Enhancers	Brain Cingulate Gyrus	brain
50	chr18:7620000-7620200	Enhancers	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links