Variant report

Variant	rs73715492
Chromosome Location	chr7:111811859-111811860
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:111810986..111813749-chr7:111822095..111824188,2	K562	blood:
2	chr7:111811365..111813180-chr7:111817071..111819354,2	K562	blood:
3	chr7:111806209..111808307-chr7:111810046..111812849,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs55935391	1.00[AMR][1000 genomes]
rs56237403	1.00[AMR][1000 genomes]
rs57297756	1.00[AMR][1000 genomes]
rs61662262	1.00[AMR][1000 genomes]
rs73715410	1.00[AMR][1000 genomes]
rs73715412	1.00[AMR][1000 genomes]
rs73715414	1.00[AMR][1000 genomes]
rs73715415	1.00[AMR][1000 genomes]
rs73715416	1.00[AMR][1000 genomes]
rs73715422	1.00[AMR][1000 genomes]
rs73715431	1.00[AMR][1000 genomes]
rs73715472	1.00[AMR][1000 genomes]
rs73715473	1.00[AMR][1000 genomes]
rs73715474	1.00[AMR][1000 genomes]
rs73715502	1.00[AMR][1000 genomes]
rs73717512	1.00[AMR][1000 genomes]
rs73717948	1.00[AMR][1000 genomes]
rs73717949	1.00[AMR][1000 genomes]
rs73717950	1.00[AMR][1000 genomes]
rs73717953	1.00[AMR][1000 genomes]
rs73717954	1.00[AMR][1000 genomes]
rs7784460	1.00[AMR][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	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1016663	chr7:111622107-111813223	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111796000-111813800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:111800800-111813000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:111802600-111825200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:111803000-111825400	Weak transcription	NHEK	skin
5	chr7:111803200-111813000	Weak transcription	Fetal Lung	lung
6	chr7:111803200-111813000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr7:111803400-111813600	Weak transcription	Left Ventricle	heart
8	chr7:111803600-111813000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr7:111803600-111813400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:111803600-111820400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:111803600-111825400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:111804200-111812000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:111804200-111813600	Weak transcription	Right Atrium	heart
14	chr7:111804200-111816200	Weak transcription	HepG2	liver
15	chr7:111804200-111816800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr7:111804800-111817400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:111805400-111813000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:111805600-111813800	Weak transcription	Ovary	ovary
19	chr7:111807600-111813000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:111807600-111813000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr7:111808800-111813000	Weak transcription	Brain Angular Gyrus	brain
22	chr7:111808800-111813200	Weak transcription	Right Ventricle	heart
23	chr7:111808800-111822800	Weak transcription	Pancreas	Pancrea
24	chr7:111809000-111813000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr7:111809200-111812600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr7:111809400-111812400	Weak transcription	HUVEC	blood vessel
27	chr7:111809800-111813000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:111810000-111812400	Weak transcription	Brain Anterior Caudate	brain
29	chr7:111810000-111813000	Weak transcription	Psoas Muscle	Psoas
30	chr7:111810000-111813600	Weak transcription	Lung	lung
31	chr7:111810200-111812000	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:111810400-111813000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr7:111811000-111812000	Weak transcription	Brain Substantia Nigra	brain
34	chr7:111811400-111812000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr7:111811600-111812200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
36	chr7:111811600-111812400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:111811600-111812400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr7:111811800-111812600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:111811800-111813000	Weak transcription	Fetal Kidney	kidney

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