Variant report

Variant	rs4731579
Chromosome Location	chr7:129102065-129102066
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129075706..129078444-chr7:129101606..129103997,3	K562	blood:
2	chr7:129030351..129032191-chr7:129101591..129103111,2	K562	blood:
3	chr7:129047189..129048822-chr7:129100135..129102786,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10500117	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10954233	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10954234	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12155142	0.87[EUR][1000 genomes]
rs12667232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12671604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34000750	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34794308	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34916100	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35131522	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35277123	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35544616	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4728165	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4731578	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4731580	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4731581	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4731582	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4731583	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62489110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6943021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs753336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs966481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428508	chr7:128946738-129114691	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1015550	chr7:128992460-129111060	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv539122	chr7:128992460-129111060	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv831128	chr7:129063040-129240800	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129075200-129108400	Weak transcription	Gastric	stomach
2	chr7:129075400-129102800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:129075400-129105800	Weak transcription	Ovary	ovary
4	chr7:129076000-129110000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:129077400-129109400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:129079600-129107200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr7:129079800-129106400	Weak transcription	NHDF-Ad	bronchial
8	chr7:129080000-129104800	Weak transcription	A549	lung
9	chr7:129080000-129128000	Weak transcription	HUVEC	blood vessel
10	chr7:129082600-129108400	Weak transcription	Thymus	Thymus
11	chr7:129083800-129112800	Strong transcription	K562	blood
12	chr7:129085800-129103600	Strong transcription	Skeletal Muscle Male	skeletal muscle
13	chr7:129087600-129103600	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr7:129089200-129106600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:129089400-129102600	Weak transcription	Brain Hippocampus Middle	brain
16	chr7:129089400-129108400	Weak transcription	Fetal Lung	lung
17	chr7:129089400-129110000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr7:129089600-129106400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:129089600-129110200	Weak transcription	Brain Substantia Nigra	brain
20	chr7:129091400-129104000	Strong transcription	Brain Anterior Caudate	brain
21	chr7:129091600-129109200	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:129091800-129108800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr7:129092600-129109200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr7:129092800-129106800	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr7:129093200-129109400	Weak transcription	Fetal Thymus	thymus
26	chr7:129093400-129105600	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr7:129093400-129134800	Weak transcription	Right Atrium	heart
28	chr7:129094000-129105200	Strong transcription	Fetal Muscle Leg	muscle
29	chr7:129094600-129102200	Weak transcription	Fetal Intestine Small	intestine
30	chr7:129094800-129104800	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr7:129094800-129107400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:129094800-129107800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:129094800-129108200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:129095000-129105600	Strong transcription	HMEC	breast
35	chr7:129095000-129105800	Strong transcription	NHEK	skin
36	chr7:129095000-129107800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:129095200-129104600	Strong transcription	Left Ventricle	heart
38	chr7:129095200-129111800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:129095400-129109800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:129095400-129115000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:129096000-129102400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:129096200-129104800	Strong transcription	Fetal Stomach	stomach
43	chr7:129096400-129109200	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr7:129096800-129105400	Strong transcription	Fetal Muscle Trunk	muscle
45	chr7:129096800-129108400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:129096800-129110200	Weak transcription	Small Intestine	intestine
47	chr7:129096800-129112000	Weak transcription	GM12878-XiMat	blood
48	chr7:129097200-129110200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr7:129097600-129128600	Weak transcription	NH-A	brain
50	chr7:129097800-129103000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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