Variant report

Variant	rs73748810
Chromosome Location	chr5:14340835-14340836
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14340281..14342656-chr5:14350736..14353309,2	MCF-7	breast:
2	chr5:14331492..14334108-chr5:14338473..14341429,3	MCF-7	breast:
3	chr5:14143270..14145160-chr5:14339683..14342800,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10062034	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10076925	0.83[AMR][1000 genomes]
rs16903399	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16903467	0.83[AMR][1000 genomes]
rs55750919	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs55754427	0.83[AMR][1000 genomes]
rs55773296	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56114434	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56141029	0.83[AMR][1000 genomes]
rs56227025	0.83[AMR][1000 genomes]
rs56664186	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56712870	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs57560019	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs57974400	0.83[AMR][1000 genomes]
rs58324829	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs58443103	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs58716074	0.80[AFR][1000 genomes]
rs58897996	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59853866	0.83[AMR][1000 genomes]
rs60077210	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60568524	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61180647	1.00[AMR][1000 genomes]
rs61396062	0.83[AMR][1000 genomes]
rs73748806	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73748811	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73749082	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73749083	0.83[AMR][1000 genomes]
rs73749085	0.83[AMR][1000 genomes]
rs73749234	0.83[AMR][1000 genomes]
rs73749235	0.83[AMR][1000 genomes]
rs73751322	0.83[AMR][1000 genomes]
rs73751323	0.83[AMR][1000 genomes]
rs73751329	0.83[AMR][1000 genomes]
rs73751335	0.80[AFR][1000 genomes]
rs73751336	0.80[AFR][1000 genomes]
rs73751337	0.83[AMR][1000 genomes]
rs73751338	0.80[AFR][1000 genomes]
rs73751339	0.80[AFR][1000 genomes]
rs73751340	0.80[AFR][1000 genomes]
rs7716460	0.83[AMR][1000 genomes]
rs7723309	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7724084	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14278000-14341200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:14310400-14342000	Weak transcription	Stomach Mucosa	stomach
3	chr5:14310600-14344600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:14314200-14342200	Weak transcription	Small Intestine	intestine
5	chr5:14314800-14342200	Strong transcription	Osteobl	bone
6	chr5:14319200-14349400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:14323600-14342400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:14326600-14342400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:14326800-14346400	Weak transcription	Fetal Kidney	kidney
10	chr5:14328000-14344400	Strong transcription	HMEC	breast
11	chr5:14328200-14342200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:14330600-14344600	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr5:14330600-14345000	Strong transcription	Fetal Muscle Trunk	muscle
14	chr5:14330800-14341600	Strong transcription	Placenta	Placenta
15	chr5:14330800-14343400	Strong transcription	Fetal Muscle Leg	muscle
16	chr5:14331000-14341800	Strong transcription	Fetal Intestine Large	intestine
17	chr5:14331000-14348000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr5:14331400-14350000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:14331600-14341200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:14331600-14342000	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr5:14332200-14341800	Strong transcription	GM12878-XiMat	blood
22	chr5:14332600-14344400	Strong transcription	NHEK	skin
23	chr5:14333000-14343400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr5:14333200-14341000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr5:14333600-14341400	Weak transcription	Brain Substantia Nigra	brain
26	chr5:14334000-14349400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:14334800-14342200	Weak transcription	Brain Hippocampus Middle	brain
28	chr5:14334800-14343400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:14335000-14360600	Weak transcription	Psoas Muscle	Psoas
30	chr5:14335200-14348600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr5:14335600-14341000	Strong transcription	A549	lung
32	chr5:14336400-14349400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:14337000-14342000	Weak transcription	Fetal Brain Male	brain
34	chr5:14337800-14346600	Weak transcription	Fetal Heart	heart
35	chr5:14338000-14342400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:14338000-14357200	Weak transcription	Colonic Mucosa	Colon
37	chr5:14338200-14341800	Strong transcription	Adipose Nuclei	Adipose
38	chr5:14338200-14343400	Weak transcription	Hela-S3	cervix
39	chr5:14338400-14341200	Weak transcription	Aorta	Aorta
40	chr5:14338400-14341200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr5:14338400-14358000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr5:14338600-14348000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr5:14338800-14343000	Genic enhancers	NHLF	lung
44	chr5:14338800-14347000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr5:14338800-14357600	Weak transcription	Esophagus	oesophagus
46	chr5:14339000-14341000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr5:14339000-14342200	Weak transcription	Right Ventricle	heart
48	chr5:14339000-14343800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr5:14339000-14346400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr5:14339200-14342000	Weak transcription	Stomach Smooth Muscle	stomach

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