Variant report

Variant	rs56237403
Chromosome Location	chr7:111823446-111823447
allele	A/G
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	chr7:111822498..111824897-chr7:111831797..111833312,2	MCF-7	breast:
3	chr7:111822388..111825191-chr7:111842170..111844760,2	K562	blood:
4	chr7:111818564..111821167-chr7:111822275..111824445,2	K562	blood:

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

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

rs_ID	r²[population]
rs55935391	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]
rs73715492	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:5 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111802600-111825200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:111803000-111825400	Weak transcription	NHEK	skin
3	chr7:111803600-111825400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:111812000-111824200	Enhancers	Brain Substantia Nigra	brain
5	chr7:111814000-111823800	Weak transcription	Liver	Liver
6	chr7:111814000-111836000	Weak transcription	Fetal Brain Female	brain
7	chr7:111814400-111824200	Weak transcription	Adipose Nuclei	Adipose
8	chr7:111817200-111826200	Enhancers	Brain Angular Gyrus	brain
9	chr7:111817400-111835800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:111819800-111824600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:111820600-111826000	Weak transcription	Gastric	stomach
12	chr7:111820800-111825800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:111820800-111831200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:111821600-111824400	Enhancers	Brain Hippocampus Middle	brain
15	chr7:111821600-111826400	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr7:111821600-111827600	Weak transcription	Fetal Brain Male	brain
17	chr7:111821800-111824600	Enhancers	HepG2	liver
18	chr7:111822000-111825800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr7:111822000-111826400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:111822400-111823800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:111822400-111823800	Enhancers	Fetal Heart	heart
22	chr7:111822400-111825400	Enhancers	HUVEC	blood vessel
23	chr7:111822600-111823600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr7:111822800-111823600	Enhancers	Psoas Muscle	Psoas
25	chr7:111822800-111823800	Enhancers	Placenta	Placenta
26	chr7:111822800-111824000	Enhancers	Ovary	ovary
27	chr7:111822800-111824200	Enhancers	Pancreas	Pancrea
28	chr7:111822800-111825800	Enhancers	Lung	lung
29	chr7:111822800-111826200	Enhancers	Right Atrium	heart
30	chr7:111822800-111826800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr7:111822800-111827600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr7:111823000-111823800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr7:111823000-111823800	Enhancers	Fetal Stomach	stomach
34	chr7:111823000-111824200	Enhancers	Brain Anterior Caudate	brain
35	chr7:111823200-111824400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr7:111823200-111825200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:111823200-111825200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:111823200-111825800	Weak transcription	Fetal Muscle Leg	muscle
39	chr7:111823200-111828000	Enhancers	Brain Cingulate Gyrus	brain
40	chr7:111823200-111828400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr7:111823200-111843200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr7:111823400-111823600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr7:111823400-111823800	Weak transcription	Left Ventricle	heart
44	chr7:111823400-111823800	Weak transcription	Right Ventricle	heart
45	chr7:111823400-111824200	Weak transcription	Colon Smooth Muscle	Colon
46	chr7:111823400-111824400	Enhancers	H9 Cell Line	embryonic stem cell
47	chr7:111823400-111824600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:111823400-111825200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:111823400-111825400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:111823400-111839000	Weak transcription	Fetal Lung	lung

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